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Tytuł :
Genetic overlap and causality between blood metabolites and migraine.
Autorzy :
Tanha HM; School of Biomedical Sciences, Faculty of Health, and Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia. Electronic address: .
Sathyanarayanan A; School of Biomedical Sciences, Faculty of Health, and Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia.
Nyholt DR; School of Biomedical Sciences, Faculty of Health, and Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia. Electronic address: .
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Corporate Authors :
International Headache Genetics Consortium
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07. Date of Electronic Publication: 2021 Oct 07.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome.
Autorzy :
Mahyari E; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR 97006, USA.
Guo J; Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT 84108, USA. Electronic address: .
Lima AC; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR 97006, USA.
Lewinsohn DP; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR 97006, USA.
Stendahl AM; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR 97006, USA.
Vigh-Conrad KA; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR 97006, USA.
Nie X; Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT 84108, USA; Department of Oncological Sciences, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Nagirnaja L; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR 97006, USA.
Rockweiler NB; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Carrell DT; Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT 84108, USA; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, UT 63110, USA.
Hotaling JM; Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT 84108, USA; Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, UT 63110, USA.
Aston KI; Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR 97006, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1924-1945.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
The risks of using unapproved gene symbols.
Autorzy :
Braschi B; HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
Seal RL; HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK; Department of Haematology, University of Cambridge School of Clinical Medicine, Cambridge CB2 0PT, UK.
Tweedie S; HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
Jones TEM; HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
Bruford EA; HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK; Department of Haematology, University of Cambridge School of Clinical Medicine, Cambridge CB2 0PT, UK. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1813-1816.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
The National Academies' Roundtable on Genomics and Precision Health: Where we have been and where we are heading.
Autorzy :
Ginsburg G; Duke Center for Applied Genomics and Precision Medicine, Duke University, Durham, NC 27708, USA.
Penny M; Goldfinch Bio, Cambridge, MA 02142, USA.
Feero WG; Maine Dartmouth Family Medicine Residency, Augusta, ME 04330, USA.
Miller M; American Society of Human Genetics, Rockville, MD 20852, USA.
Addie S; Health and Medicine Division, The National Academies of Sciences, Engineering, and Medicine, Washington, DC 20001, USA.
Beachy SH; Health and Medicine Division, The National Academies of Sciences, Engineering, and Medicine, Washington, DC 20001, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1817-1822.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Autorzy :
Richard EM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Marsh APL; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Kaiyrzhanov R; Department of Neuromuscular Disorders, Institute of Neurology, University College London, Queen Square, WC1N 3BG London, UK.
Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Shetty S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Pagnozzi A; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane, QLD 4029, Australia.
Nordlie SM; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Guida BS; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Cornejo P; Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Mayo Clinic, Scottsdale, AZ 85259, USA.
Magee H; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Liu J; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Norton BY; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Webster RI; Neurology Department, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
Worgan L; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW 2050, Australia.
Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Li J; Department of Computer Science, City University of Hong Kong, Kowloon 999077, Hong Kong.
Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.
Jain M; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Blesson A; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD 21211, USA.
Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Abbott MA; University of Massachusetts Medical School - Baystate, Baystate Children's Hospital, Springfield, MA 01107, USA.
Comi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Lenz D; Centre of Child and Adolescent Medicine, Department of Pediatric Neurology and Metabolic Medicine, Heidelberg University Hospital, 69120 Heidelberg, Germany.
Ziegler A; Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Kotzaeridou U; Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Chassevent A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Ekstein J; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, New York, NY 11211, USA.
Weiden T; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem 9054020, Israel.
Hahn A; Department of Child Neurology, Justus-Liebig-University Giessen, 35392 Giessen, Germany.
Zharkinbekova N; Department of Neurology, South Kazakhstan Medical Academy, Shymkent 160001, Kazakhstan.
Turnpenny P; Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, EX1 2ED Exeter, UK.
Tucci A; Clinical Pharmacology, William Harvey Research Institute, Charterhouse Square, School of Medicine and Dentistry Queen Mary University of London, London EC1M 6BQ, UK.
Yelton M; Penn State Health Children's Hospital, Hershey, PA 17033, USA.
Horvath R; Department of Clinical Neurosciences, John Van Geest Cambridge Centre for Brain Repair, University of Cambridge School of Clinical Medicine, CB2 0PY Cambridge, UK.
Gungor S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Paediatric Neurology, 44280 Malatya, Turkey.
Hiz S; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, 35340 Izmir, Turkey; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey.
Oktay Y; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, 35340 Izmir, Turkey; Department of Medical Biology, Faculty of Medicine, Dokuz Eylul University, 35220 Izmir, Turkey.
Lochmuller H; Children's Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Zollino M; Università Cattolica Sacro Cuore, Facoltà di Medicina e Chirurgia, Dipartimento Scienze della Vita e Sanità Pubblica, 00168 Roma, Italy; Fondazione Policlinico A. Gemelli IRCCS, Sezione di Medicina Genomica, 00168 Roma, Italy.
Morleo M; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy.
Marangi G; Università Cattolica Sacro Cuore, Facoltà di Medicina e Chirurgia, Dipartimento Scienze della Vita e Sanità Pubblica, 00168 Roma, Italy; Fondazione Policlinico A. Gemelli IRCCS, Sezione di Medicina Genomica, 00168 Roma, Italy.
Nigro V; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' 80138 Naples, Italy.
Torella A; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' 80138 Naples, Italy.
Pinelli M; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy.
Amenta S; Università Cattolica Sacro Cuore, Facoltà di Medicina e Chirurgia, Dipartimento Scienze della Vita e Sanità Pubblica, 00168 Roma, Italy; Fondazione Policlinico A. Gemelli IRCCS, Sezione di Medicina Genomica, 00168 Roma, Italy.
Husain RA; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.
Grossmann B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany.
Rapp M; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany.
Steen C; Department of Paediatric and Adolescent Medicine, St Joseph Hospital, 12101 Berlin, Germany.
Marquardt I; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, 26133 Oldenburg, Germany.
Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany.
Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany.
Korenke GC; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, 26133 Oldenburg, Germany.
Owczarek-Lipska M; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany; Junior Research Group, Genetics of Childhood Brain Malformations, Faculty VI-School of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany.
Neidhardt J; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany; Research Center Neurosensory Science, University of Oldenburg, 26129 Oldenburg, Germany.
Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Mancini C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Claps Sepulveda DJ; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Crunk A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Person R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Schnur RE; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Mancardi MM; Unit of Child Neuropsichiatry, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini, Genoa 16147, Italy.
Kreuder F; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3168, Australia.
Striano P; Pediatric Neurology and Muscular Diseases Unit, IRRCS Istituto Giannina Gaslini, 16148 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16142 Genoa, Italy.
Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16142 Genoa, Italy; Unit of Medical Genetics, IRRCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
Marks WA; Department of Neurology, Cook Children's Medical Center, Fort Worth, TX 76104, USA; Department of Pediatrics, University of North Texas Health Science Center, Fort Worth, TX 76107, USA.
van Eyk CL; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Webber DL; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Corbett MA; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Harper K; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Berry JG; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
MacLennan AH; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Gecz J; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Salpietro V; Pediatric Neurology and Muscular Diseases Unit, IRRCS Istituto Giannina Gaslini, 16148 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16142 Genoa, Italy.
Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW 2006, Australia.
Kaslin J; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3168, Australia.
Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Bilguvar K; Yale Center for Genome Analysis, Yale University, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Munchau A; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany.
Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Fahey MC; Department of Paediatrics, Monash University, Melbourne, VIC 3168, Australia.
Maroofian R; Department of Neuromuscular Disorders, Institute of Neurology, University College London, Queen Square, WC1N 3BG London, UK.
Houlden H; Department of Neuromuscular Disorders, Institute of Neurology, University College London, Queen Square, WC1N 3BG London, UK.
Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Mane SM; Yale Center for Genome Analysis, Yale University, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Rad A; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076 Tübingen, Germany.
Vona B; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076 Tübingen, Germany.
Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany; Centre for Rare Diseases, University of Tübingen, 72074 Tuebingen, Germany.
Makowski C; Department of Paediatrics, Adolescent Medicine and Neonatology, Munich Clinic, Schwabing Hospital and Technical University of Munich, School of Medicine, 80804 Munich, Germany.
Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, New York, NY 11211, USA.
Riazuddin S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 21201, USA. Electronic address: .
Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 2006-2016.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Autorzy :
Caputo SM; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France. Electronic address: .
Golmard L; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Léone M; Service de Génétique, plate-forme mixte des cancers fréquents, Hospices Civils de Lyon, Bron 69229, France.
Damiola F; Centre Léon Bérard, Lyon 69373, France.
Guillaud-Bataille M; Service de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Revillion F; Department of Genetics, Centre Oscar Lambret, Lille 59000, France.
Rouleau E; Service de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Derive N; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Buisson A; Service de Génétique, plate-forme mixte des cancers fréquents, Hospices Civils de Lyon, Bron 69229, France.
Basset N; Département de génétique, AP-HP, Sorbonne université-Site Pitié-Salpêtrière, Paris 75013, France.
Schwartz M; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Vilquin P; Département Pathologie et Oncobiologie, CHU Montpellier, Montpellier 34070, France.
Garrec C; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes 44093, France.
Privat M; Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand 63000, France.
Gay-Bellile M; Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand 63000, France; INSERM U1240, Université Clermont Auvergne, Clermont-Ferrand 63000, France.
Abadie C; Unité d'Oncogénétique, Institut de Cancérologie de l'Ouest, Centre René Gauducheau, St Herbain-Nantes 44805, France.
Abidallah K; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Airaud F; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes 44093, France.
Allary AS; Department of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Barouk-Simonet E; Unité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Belotti M; Department of Genetics, Institut Curie, Paris 75005, France; Clinical research direction, Institut Curie, Paris 75005, France.
Benigni C; Hôpital d'Enfants, CHRU Nancy Hopitaux de Brabois, Vandoeuvre les Nancy 54500, France.
Benusiglio PR; UF d'Oncogénétique, GH Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France.
Berthemin C; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Berthet P; Oncogenetic, Department of Biopathology, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Bertrand O; Department of Genetics, Institut Curie, Saint-Cloud 92210, France.
Bézieau S; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes 44093, France.
Bidart M; Laboratoire de Génétique Moléculaire: Maladies Héréditaires et Oncologie, CHU Grenoble Alpes, Grenoble 38700, France; INSERM 1209, Université Grenoble Alpes, Grenoble 38700, France.
Bignon YJ; Department of Oncogenetics, Centre Jean Perrin, UMR INSERM 1240, Université Clermont Auvergne, Clermont-Ferrand Cedex 63011, France.
Birot AM; Service de Génétique, Hôpital Européen Georges Pompidou, Paris 75015, France.
Blanluet M; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Bloucard A; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Bombled J; Service de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Bonadona V; Département Prévention Santé Publique, Centre Léon Bérard, Lyon 69008, France.
Bonnet F; Unité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Bonnet-Dupeyron MN; Consultations de Génétique, Centre Hospitalier de Valence, Valence 26953, France.
Boulaire M; Department of Genetics, Centre Oscar Lambret, Lille 59000, France.
Boulouard F; Laboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Bouras A; Service de Génétique, plate-forme mixte des cancers fréquents, Hospices Civils de Lyon, Bron 69229, France.
Bourdon V; Department of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Brahimi A; Department of Genetics, CHU Lille, Lille 59000, France.
Brayotel F; Oncogenetics Laboratory, Institut Godinot, Reims 51726, France.
Bressac de Paillerets B; Service de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Bronnec N; Génétique Médicale, CHU Bordeaux, Bordeaux 33076, France.
Bubien V; Unité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Buecher B; Department of Genetics, Institut Curie, Paris 75005, France.
Cabaret O; Service de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Carriere J; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Chiesa J; Department of Genetics, Centre Hospitalier Régional Universitaire, Nimes 30029, France.
Chieze-Valéro S; Service Oncogénétique Régional Poitou-Charentes, CH Georges Renon, Niort 79000, France.
Cohen C; Service de Génétique, CHI de Poissy-Saint Germain En Laye, Poissy 78300, France.
Cohen-Haguenauer O; Service de Génétique, CHI de Poissy-Saint Germain En Laye, Poissy 78300, France.
Colas C; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Collonge-Rame MA; Oncobiologie Génétique Bioinformatique, CHRU Besançon, Besançon 25030, France.
Conoy AL; Department of Genetics, Centre Oscar Lambret, Lille 59000, France.
Coulet F; Département de génétique, AP-HP, Sorbonne université-Site Pitié-Salpêtrière, Paris 75013, France.
Coupier I; Département Pathologie et Oncobiologie, CHU Montpellier, Montpellier 34070, France.
Crivelli L; Centre Eugène Marquis, Rennes, France.
Cusin V; Département de génétique, AP-HP, Sorbonne université-Site Pitié-Salpêtrière, Paris 75013, France.
De Pauw A; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Dehainault C; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Delhomelle H; Department of Genetics, Institut Curie, Saint-Cloud 92210, France.
Delnatte C; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes 44093, France; Unité d'Oncogénétique, Institut de Cancérologie de l'Ouest, Centre René Gauducheau, St Herbain-Nantes 44805, France.
Demontety S; Department of Genetics, Institut Curie, Paris 75005, France.
Denizeau P; Centre Hospitalo-Universitaire Rennes, Rennes 35000, France.
Devulder P; Oncogenetic, Department of Biopathology, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Dreyfus H; Institut Sainte Catherine, Avignon 84082, France.
d'Enghein CD; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Dupré A; Unité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Durlach A; Consultation oncogénétique, CHU Reims, Reims 51092, France.
Dussart S; Département Prévention Santé Publique, Centre Léon Bérard, Lyon 69008, France.
Fajac A; Service d'Anatomie et Cytologie Pathologiques, Hôpital Tenon, AP-HP, Sorbonne Université, Paris 75020, France.
Fekairi S; Department of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Fert-Ferrer S; UF Consultation de génétique, Centre Hospitalier Métropole Savoie, Chambéry 73011, France.
Fiévet A; Service de Génétique des Tumeurs, Gustave Roussy, Villejuif 94806, France.
Fouillet R; Laboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Mouret-Fourme E; Department of Genetics, Institut Curie, Saint-Cloud 92210, France.
Gauthier-Villars M; Department of Genetics, Institut Curie, Paris 75005, France.
Gesta P; Service Oncogénétique Régional Poitou-Charentes, CH Georges Renon, Niort 79000, France.
Giraud S; Hospices Civils de Lyon, Lyon 69229, France.
Gladieff L; Oncogenetics Department, Institut Claudius Regaud, Toulouse 31059, France.
Goldbarg V; Gustave Roussy, Département de médecine oncologique, Villejuif 94805, France.
Goussot V; Département de Biologie et Pathologie des Tumeurs, Centre Georges François Leclerc, Dijon 21000, France.
Guibert V; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes 44093, France.
Guillerm E; Département de génétique, AP-HP, Sorbonne université-Site Pitié-Salpêtrière, Paris 75013, France.
Guy C; Department of Genetics, Institut Curie, Paris 75005, France.
Hardouin A; Laboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Heude C; Oncogenetic, Department of Biopathology, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Houdayer C; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Ingster O; Département de Génétique Médicale/oncogénétique, CHU Angers, Angers 49000, France.
Jacquot-Sawka C; Centre de Génétique, CHU de Dijon (hopital François Mitterand) and CLCC de Dijon (Centre Georges François Leclerc), Dijon 21000, France.
Jones N; Unité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Krieger S; Laboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France; Inserm U1245, Rouen University, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Lacoste S; Department of Genetics, Institut Curie, Paris 75005, France.
Lallaoui H; CH La rochelle, La Rochelle 17000, France.
Larbre H; Oncogenetics Laboratory, Institut Godinot, Reims 51726, France.
Laugé A; Department of Genetics, Institut Curie, Paris 75005, France.
Le Guyadec G; Laboratoire de Génétique Moléculaire: Maladies Héréditaires et Oncologie, CHU Grenoble Alpes, Grenoble 38700, France.
Le Mentec M; Department of Genetics, Institut Curie, Paris 75005, France.
Lecerf C; Department of Genetics, Institut Curie, Paris 75005, France.
Le Gall J; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Legendre B; Department of Genetics, Centre Oscar Lambret, Lille 59000, France.
Legrand C; Service de Génétique, CHU Grenoble Alpes, Grenoble 38700, France.
Legros A; Laboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Lejeune S; Department of Genetics, CHU Lille, Lille 59000, France.
Lidereau R; Department of Genetics, Institut Curie, Paris 75005, France.
Lignon N; Oncogenetics Department, Institut Claudius Regaud, Toulouse 31059, France.
Limacher JM; Génétique Oncologique Clinique, Hospices Civils de Colmar, Colmar 68000, France.
Doriane Livon; Department of Clinical Cancer Genetics, Institut Paoli-Calmettes, Marseille 13273, France.
Lizard S; Department of Genetics, CHRU Nancy Hopitaux de Brabois, Vandoeuvre les Nancy 54500, France.
Longy M; Unité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Lortholary A; Department of Genetics, Hôpital Privé du Confluent, Nantes 44202, France.
Macquere P; Unité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Mailliez A; Department of Genetics, Centre Oscar Lambret, Lille 59000, France.
Malsa S; Department of Genetics, CHU de Martinique, Fort de France 97200, Martinique.
Margot H; Unité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Mari V; Service oncogénétique, Centre Antoine Lacassagne, Nice 06189, France.
Maugard C; Génétique Oncologique Moléculaire, Hôpital de Hautepierre, Strasbourg 67000, France.
Meira C; Department of Genetics, Centre Oscar Lambret, Lille 59000, France.
Menjard J; Department of Genetics, CHU Brest, Brest 29600, France.
Molière D; Service de Génétique, Hôpital Européen Georges Pompidou, Paris 75015, France.
Moncoutier V; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Moretta-Serra J; Department of Clinical Cancer Genetics, Institut Paoli-Calmettes, Marseille 13273, France.
Muller E; Laboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France; Inserm U1245, Rouen University, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Nevière Z; Oncogenetic, Department of Biopathology, Comprehensive Cancer Center François Baclesse, Caen 14076, France.
Nguyen Minh Tuan TV; Department of Genetics, Institut Curie, Paris 75005, France; Paris Sciences Lettres Research University, Paris 75005, France.
Noguchi T; Department of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Noguès C; Department of Clinical Cancer Genetics, Institut Paoli-Calmettes, Marseille 13273, France.
Oca F; Department of Genetics, Centre Oscar Lambret, Lille 59000, France.
Popovici C; Department of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Prieur F; Service de Génétique, CHU St Etienne, Saint Etienne 42055, France.
Raad S; Unité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Rey JM; Département Pathologie et Oncobiologie, CHU Montpellier, Montpellier 34070, France.
Ricou A; Laboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France; Inserm U1245, Rouen University, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Salle L; Service Oncogénétique Régional Poitou-Charentes, CH Georges Renon, Niort 79000, France.
Saule C; Department of Genetics, Institut Curie, Saint-Cloud 92210, France.
Sevenet N; Unité d'Oncogénétique, Institut Bergonié, Bordeaux 33076, France.
Simaga F; Department of Genetics, Institut Curie, Paris 75005, France.
Sobol H; Department of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Suybeng V; Department of Genetics, Institut Curie, Paris 75005, France.
Tennevet I; Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France; Department of Oncology, Comprehensive Cancer Centre Henri Becquerel, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Tenreiro H; Department of Genetics, Institut Curie, Paris 75005, France.
Tinat J; Génétique Médicale, CHU Bordeaux, Bordeaux 33076, France.
Toulas C; Oncogenetics Laboratory, Institut Claudius Regaud, Toulouse 31059, France.
Turbiez I; Clinical research direction, Institut Curie, Paris 75005, France.
Uhrhammer N; Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand 63000, France; INSERM U1240, Université Clermont Auvergne, Clermont-Ferrand 63000, France.
Vande Perre P; Oncogenetics Laboratory, Institut Claudius Regaud, Toulouse 31059, France.
Vaur D; Laboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France; Inserm U1245, Rouen University, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Venat L; Department of oncology, CHU Dupuytren, Limoges 87042, France.
Viellard N; Department of Genetics, Institut Curie, Paris 75005, France.
Villy MC; Department of Genetics, Institut Curie, Paris 75005, France.
Warcoin M; Department of Genetics, Institut Curie, Paris 75005, France.
Yvard A; Department of Genetics, Hôpital Privé du Confluent, Nantes 44202, France.
Zattara H; Department of Genetics, Centre Oscar Lambret, Lille 59000, France.
Caron O; Gustave Roussy, Département de médecine oncologique, Villejuif 94805, France.
Lasset C; Département Prévention Santé Publique, Centre Léon Bérard, Lyon 69008, France.
Remenieras A; Department of Cancer Biology, Laboratory of Molecular Oncogenetics, Institut Paoli Calmettes, Marseille 13273, France.
Boutry-Kryza N; Service de Génétique, plate-forme mixte des cancers fréquents, Hospices Civils de Lyon, Bron 69229, France.
Castéra L; Laboratory of Cancer Biology and Genetics, Comprehensive Cancer Center François Baclesse, Caen 14076, France; Inserm U1245, Rouen University, Normandy Centre for Genomic and Personalized Medicine, Rouen 76031, France.
Stoppa-Lyonnet D; Department of Genetics, Institut Curie, Paris 75005, France; Paris University, Paris 75005, France; INSERM U830, Institut Curie, Paris 75005, France.
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1907-1923. Date of Electronic Publication: 2021 Sep 30.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Autorzy :
Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: .
Ito YA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Chrestian N; Department of Paediatric Neurology, Paediatric Neuromuscular Disorder, Centre Mère Enfant Soleil, Laval University, Quebec City, QC G1V 4G2, Canada; Department of Molecular Medicine, Faculty of Medicine, Neuroscience Laboratory, CHU de Québec Research Center, Laval University, Quebec City, QC G1V 4G2, Canada.
Stanley V; Laboratory for Pediatric Brain Disease, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
Brady L; Neuromuscular and Neurometabolics Division, Department of Pediatrics, McMaster University, Hamilton, ON L8N 3Z5, Canada.
Tarnopolsky M; Neuromuscular and Neurometabolics Division, Department of Pediatrics, McMaster University, Hamilton, ON L8N 3Z5, Canada.
Curry CJ; Genetic Medicine Division, Department of Pediatrics, University of California, San Francisco, Fresno, CA 93701, USA.
Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Mears W; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Derksen A; Child Health and Human Development Program, McGill University Health Centre Research Institute, Montréal, QC H4A 3J1, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, QC H3A 0G4, Canada.
Rioux N; Department of Molecular Medicine, Faculty of Medicine, Neuroscience Laboratory, CHU de Québec Research Center, Laval University, Quebec City, QC G1V 4G2, Canada.
Laflamme N; Department of Molecular Medicine, Faculty of Medicine, Neuroscience Laboratory, CHU de Québec Research Center, Laval University, Quebec City, QC G1V 4G2, Canada.
Hutchison HT; Neurology Division, Department of Pediatrics, University of California, San Francisco, Fresno, CA 93701, USA.
Pais LS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, 12311 Cairo, Egypt.
Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, 54000 Lahore, Pakistan.
Dane AD; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam 1105, the Netherlands.
Gleeson JG; Laboratory for Pediatric Brain Disease, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology and Endocrinology Metabolism, Amsterdam 1105, the Netherlands; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam 1105, the Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam 1105, the Netherlands.
Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Bernard G; Genetic Medicine Division, Department of Pediatrics, University of California, San Francisco, Fresno, CA 93701, USA; Child Health and Human Development Program, McGill University Health Centre Research Institute, Montréal, QC H4A 3J1, Canada; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, QC H4A 3J1, Canada.
Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: .
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Corporate Authors :
Care4Rare Canada Consortium
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 2017-2023. Date of Electronic Publication: 2021 Sep 28.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.
Autorzy :
Mikhaylova AV; Department of Biostatistics, University of Washington, Seattle, WA 98105, USA.
McHugh CP; Department of Biostatistics, University of Washington, Seattle, WA 98105, USA.
Polfus LM; Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Raffield LM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Boorgula MP; Division of Biomedical Informatics and Personalized Medicine, School of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Blackwell TW; TOPMed Informatics Research Center, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
Brody JA; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98105, USA.
Broome J; Department of Biostatistics, University of Washington, Seattle, WA 98105, USA.
Chami N; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
Chen MH; Population Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA; National Heart, Lung and Blood Institute's and Boston University's Framingham Heart Study, Framingham, MA 01701, USA.
Conomos MP; Department of Biostatistics, University of Washington, Seattle, WA 98105, USA.
Cox C; Division of Biomedical Informatics and Personalized Medicine, School of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Curran JE; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78539, USA.
Daya M; Division of Biomedical Informatics and Personalized Medicine, School of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Ekunwe L; Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Glahn DC; Department of Psychiatry, Boston Children's Hospital and Harvard Medical School, Boston, MA 02155, USA.
Heard-Costa N; National Heart, Lung and Blood Institute's and Boston University's Framingham Heart Study, Framingham, MA 01701, USA; Department of Neurology, Boston University School of Medicine, Boston, MA 02118, USA.
Highland HM; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Hobbs BD; Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Ilboudo Y; Montréal Heart Institute, Montréal, Québec H1T 1C8, Canada; Faculté de Médecine, Université de Montréal, Montréal, Québec H1T 1C8, Canada.
Jain D; Department of Biostatistics, University of Washington, Seattle, WA 98105, USA.
Lange LA; Division of Biomedical Informatics and Personalized Medicine, School of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Miller-Fleming TW; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37240, USA.
Min N; Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Moon JY; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Preuss MH; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
Rosen J; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Ryan K; Department of Medicine, Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Smith AV; TOPMed Informatics Research Center, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
Sun Q; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Surendran P; British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge CB1 8RN, UK; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge CB1 8RN, UK; Rutherford Fund Fellow, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
de Vries PS; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Walter K; Department of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Wang Z; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
Wheeler M; Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Yanek LR; Division of General Internal Medicine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Zhong X; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37240, USA.
Abecasis GR; TOPMed Informatics Research Center, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
Almasy L; Department of Biomedical and Health Informatics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Barnes KC; Division of Biomedical Informatics and Personalized Medicine, School of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Beaty TH; School of Public Health, John Hopkins University, Baltimore, MD 21205, USA.
Becker LC; Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Blangero J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78539, USA.
Boerwinkle E; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Butterworth AS; British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge CB1 8RN, UK; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge CB1 8RN, UK; National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics, University of Cambridge, Cambridge CB1 8RN, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge CB1 8RN, UK.
Chavan S; Division of Biomedical Informatics and Personalized Medicine, School of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Cho MH; Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Choquet H; Division of Research, Kaiser Permanente Northern California, Oakland, CA 94601, USA.
Correa A; Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Cox N; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37240, USA.
DeMeo DL; Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Faraday N; Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Fornage M; University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Gerszten RE; Division of Cardiovascular Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Hou L; Institute for Public Health and Medicine, Northwestern University, Chicago, IL 60661, USA.
Johnson AD; Population Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA; National Heart, Lung and Blood Institute's and Boston University's Framingham Heart Study, Framingham, MA 01701, USA.
Jorgenson E; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
Kaplan R; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Kooperberg C; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Kundu K; Department of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; Department of Haematology, University of Cambridge, Cambridge CB1 8RN, UK.
Laurie CA; Department of Biostatistics, University of Washington, Seattle, WA 98105, USA.
Lettre G; Montréal Heart Institute, Montréal, Québec H1T 1C8, Canada; Faculté de Médecine, Université de Montréal, Montréal, Québec H1T 1C8, Canada.
Lewis JP; Department of Medicine, Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Li B; Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232, USA.
Li Y; Departments of Biostatistics, Genetics, and Computer Science, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Lloyd-Jones DM; Division of Cardiology, Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60661, USA; Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60661, USA.
Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
Manichaikul A; Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Meyers DA; Division of Genetics, Genomics and Precision Medicine, Department of Medicine, University of Arizona, Tucson, AZ 85724, USA.
Mitchell BD; Department of Medicine, Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA; Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, MD 21201, USA.
Morrison AC; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Ngo D; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Nongmaithem S; Department of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
North KE; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
O'Connell JR; Department of Medicine, Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Ortega VE; Department of Internal Medicine, Center for Precision Medicine, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA.
Pankratz N; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
Perry JA; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Psaty BM; Department of Epidemiology, University of Washington, Seattle, WA 98105, USA; Department of Health Service, University of Washington, Seattle, WA 98105, USA; Department of Medicine, University of Washington, Seattle, WA 98105, USA.
Rich SS; Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Soranzo N; Department of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics, University of Cambridge, Cambridge CB1 8RN, UK; Department of Haematology, University of Cambridge, Cambridge CB1 8RN, UK; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Cambridge CB1 8RN, UK.
Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Silverman EK; Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Smith NL; Department of Epidemiology, University of Washington, Seattle, WA 98105, USA; Department of Health Service, University of Washington, Seattle, WA 98105, USA; Seattle Epidemiologic Research and Information Center, Department of Veterans Affairs Office of Research and Development, Seattle, WA 98105, USA.
Tang H; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Tracy RP; Department of Pathology and Laboratory Medicine and Department of Biochemistry, University of Vermont Larner College of Medicine, Colchester, VT 05446, USA.
Thornton TA; Department of Biostatistics, University of Washington, Seattle, WA 98105, USA; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
Vasan RS; National Heart, Lung and Blood Institute's and Boston University's Framingham Heart Study, Framingham, MA 01701, USA; Departments of Cardiology and Preventive Medicine, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA; Department of Epidemiology, Boston University School of Public Health, Boston, MA 02118, USA.
Zein J; Respiratory Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Mathias RA; Division of Allergy and Clinical Immunology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Reiner AP; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA. Electronic address: .
Auer PL; Zilber School of Public Health, University of Wisconsin, Milwaukee, Milwaukee, WI 53205, USA. Electronic address: .
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Corporate Authors :
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1836-1851. Date of Electronic Publication: 2021 Sep 27.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Autorzy :
Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Isikay S; Department of Pediatric Neurology, Faculty of Medicine, University of Gaziantep, Gaziantep 27310, Turkey.
Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey.
Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey.
Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Ayaz A; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey; Departments of Medical Genetics, School of Medicine, Istanbul Medipol University, Istanbul 34810, Turkey.
Tos T; University of Health Sciences Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Department of Medical Genetics, Ankara 06080, Turkey.
Yesil G; Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul University, Istanbul 34093, Turkey.
Aydin H; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Private Reyap Istanbul Hospital, Istanbul 34515, Turkey.
Geckinli B; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul 34722, Turkey.
Elcioglu N; Department of Pediatric Genetics, School of Medicine, Marmara University, Istanbul 34722, Turkey; Eastern Mediterranean University Medical School, Magosa, Mersin 10, Turkey.
Candan S; Medical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey.
Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey.
Erdem HB; Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara 06110, Turkey.
Gul D; Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey.
Demiral E; Department of Medical Genetics, School of Medicine, University of Inonu, Malatya 44280, Turkey.
Elmas M; Department of Medical Genetics, Afyon Kocatepe University, School of Medicine, Afyon 03218, Turkey.
Yesilbas O; Division of Critical Care Medicine, Department of Pediatrics, School of Medicine, Bezmialem Foundation University, Istanbul 34093, Turkey; Department of Pediatrics, Division of Pediatric Critical Care Medicine, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Kilic B; Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Inonu University, Malatya 34218, Turkey.
Gungor S; Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Inonu University, Malatya 34218, Turkey.
Ceylan AC; Department of Medical Genetics, University of Health Sciences, Ankara Training and Research Hospital, Ankara 06110, Turkey.
Bozdogan S; Department of Medical Genetics, Cukurova University Faculty of Medicine, Adana 01330, Turkey.
Ozalp O; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey.
Cicek S; Department of Medical Genetics, Konya Training and Research Hospital, Konya 42250, Turkey.
Aslan H; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey.
Yalcintepe S; Department of Medical Genetics, School of Medicine, Trakya University, Edirne 22130, Turkey.
Topcu V; Department of Medical Genetics, Ankara City Hospital, Ankara 06800, Turkey.
Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA.
Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Hu J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: .
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: .
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Corporate Authors :
Baylor-Hopkins Center for Mendelian Genomics
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1981-2005. Date of Electronic Publication: 2021 Sep 28.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
An integrated approach to identify environmental modulators of genetic risk factors for complex traits.
Autorzy :
Balliu B; Department of Computational Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: .
Carcamo-Orive I; Department of Medicine, Division of Cardiovascular Medicine, Cardiovascular Institute and Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA 94305, USA.
Gloudemans MJ; Biomedical Informatics Training Program and Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Nachun DC; Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Durrant MG; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Gazal S; Center for Genetic Epidemiology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Park CY; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Knowles DA; New York Genome Center, New York, NY 10013, USA; Department of Computer Science, Columbia University, New York, NY 10027, USA.
Wabitsch M; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology, Ulm University, Ulm 89075, Germany.
Quertermous T; Department of Medicine, Division of Cardiology and Cardiovascular Institute, Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA 94305, USA.
Knowles JW; Department of Medicine, Division of Cardiology and Cardiovascular Institute, Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: .
Montgomery SB; Department of Pathology and Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1866-1879. Date of Electronic Publication: 2021 Sep 27.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer.
Autorzy :
Jermusyk A; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Zhong J; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Connelly KE; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Gordon N; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Perera S; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, NIH, Frederick, MD 21702, USA.
Abdolalizadeh E; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Zhang T; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
O'Brien A; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Hoskins JW; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Collins I; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Eiser D; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Yuan C; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Risch HA; Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06520, USA.
Jacobs EJ; Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA 30303, USA.
Li D; Department of Gastrointestinal Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Du M; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10017, USA.
Stolzenberg-Solomon RZ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Klein AP; Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, MD 21231, USA; Department of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA.
Smith JP; Department of Medicine, Georgetown University, Washington, DC 20057, USA.
Wolpin BM; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Chanock SJ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Shi J; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Petersen GM; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Westlake CJ; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, NIH, Frederick, MD 21702, USA.
Amundadottir LT; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA. Electronic address: .
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Corporate Authors :
PanScan Consortium
PanC4 Consortium
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1852-1865. Date of Electronic Publication: 2021 Sep 23.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Improved pathogenicity prediction for rare human missense variants.
Autorzy :
Wu Y; The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
Li R; The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
Sun S; The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
Weile J; The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
Roth FP; The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Center for Cancer Systems Biology, Dana Farber Cancer Institute, Boston, MA 02215, USA; Canadian Institute for Advanced Research, Toronto, ON M5G 1Z8, Canada. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1891-1906. Date of Electronic Publication: 2021 Sep 21.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Autorzy :
Qiao L; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Xu L; Department of Pediatrics, University of California, San Diego Medical School, San Diego, CA 92093, USA.
Yu L; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Hernan R; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Zhou X; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Farkouh-Karoleski C; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Krishnan US; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Khlevner J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
De A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Zygmunt A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Crombleholme T; Medical City Children's Hospital, Dallas, TX 75230, USA.
Lim FY; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Needelman H; University of Nebraska Medical Center College of Medicine, Omaha, NE 68114, USA.
Cusick RA; University of Nebraska Medical Center College of Medicine, Omaha, NE 68114, USA.
Mychaliska GB; University of Michigan Health System, Ann Arbor, MI 48109, USA.
Warner BW; Washington University School of Medicine, St. Louis, MO 63110, USA.
Wagner AJ; Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Danko ME; Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA.
Chung D; Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA.
Potoka D; University of Pittsburgh, Pittsburgh, PA 15224, USA.
Kosiński P; Medical University of Warsaw, 02-091 Warsaw, Poland.
McCulley DJ; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 52726, USA.
Elfiky M; Cairo University, Cairo 11432, Egypt.
Azarow K; Oregon Health & Science University, Portland, OR 97239, USA.
Fialkowski E; Oregon Health & Science University, Portland, OR 97239, USA.
Schindel D; UT Southwestern Medical Center, Dallas, TX 75390, USA.
Soffer SZ; Northwell Health, New York, NY 11040, USA.
Lyon JB; Department of Radiology, University of Wisconsin-Madison, Madison, WI 53792, USA.
Zalieckas JM; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA.
Vardarajan BN; Department of Neurology, Taub Institute for Research on Alzheimer Disease and the Aging Brain and the Gertrude H. Sergievsky Center, Columbia University, New York, NY 10032, USA.
Aspelund G; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Duron VP; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
High FA; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA.
Sun X; Department of Pediatrics, University of California, San Diego Medical School, San Diego, CA 92093, USA.
Donahoe PK; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Harvard Medical School, Boston, MA 02115, USA.
Shen Y; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY 10032, USA; JP Sulzberger Columbia Genome Center, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: .
Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1964-1980. Date of Electronic Publication: 2021 Sep 20.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.
Autorzy :
Mukherjee S; Department of Biological Sciences, Vanderbilt University, Nashville, TN 37235, USA.
Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Newman JH; Pulmonary Hypertension Center, Division of Allergy, Pulmonary, and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Meiler J; Department of Chemistry, Vanderbilt University, Nashville, TN 37235, USA; Department of Pharmacology, Vanderbilt University, Nashville, TN 37235, USA; Center for Structural Biology, Vanderbilt University, Nashville, TN 37235, USA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Institute for Drug Discovery, Leipzig University Medical School, Leipzig 04103, Germany; Department of Chemistry, Leipzig University, Leipzig 04109, Germany; Department of Computer Science, Leipzig University, Leipzig 04109, Germany. Electronic address: .
Capra JA; Department of Biological Sciences, Vanderbilt University, Nashville, TN 37235, USA; Center for Structural Biology, Vanderbilt University, Nashville, TN 37235, USA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Bakar Computational Health Sciences Institute and Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: .
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Corporate Authors :
Undiagnosed Diseases Network
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1946-1963. Date of Electronic Publication: 2021 Sep 15.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
Autorzy :
Kachuri L; Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94158, USA.
Jeon S; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
DeWan AT; Center for Perinatal, Pediatric, and Environmental Epidemiology, Yale School of Public Health, New Haven, CT 06510, USA; Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06510, USA.
Metayer C; Division of Epidemiology and Biostatistics, School of Public Health, University of California, Berkeley, Berkeley, CA 94720, USA.
Ma X; Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06510, USA.
Witte JS; Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94158, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Urology, University of California, San Francisco, San Francisco, CA 94143, USA.
Chiang CWK; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA.
Wiemels JL; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA; Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90033, USA.
de Smith AJ; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA; Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90033, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1823-1835. Date of Electronic Publication: 2021 Aug 31.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Fast two-stage phasing of large-scale sequence data.
Autorzy :
Browning BL; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA. Electronic address: .
Tian X; Statistical Innovation, Oncology Biometrics, AstraZeneca, Gaithersburg, MD 20878, USA.
Zhou Y; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Browning SR; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1880-1890. Date of Electronic Publication: 2021 Sep 02.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Revisiting the out of Africa event with a deep-learning approach.
Autorzy :
Montinaro F; Institute of Genomics, University of Tartu, Tartu 51010, Estonia; Department of Biology-Genetics, University of Bari, Bari 70124, Italy.
Pankratov V; Institute of Genomics, University of Tartu, Tartu 51010, Estonia.
Yelmen B; Institute of Genomics, University of Tartu, Tartu 51010, Estonia; Institute of Molecular and Cell Biology, University of Tartu, Tartu 51010, Estonia; Université Paris-Saclay, CNRS UMR 9015, INRIA, Laboratoire Interdisciplinaire des Sciences du Numérique, 91400 Orsay, France.
Pagani L; Institute of Genomics, University of Tartu, Tartu 51010, Estonia; Department of Biology, University of Padova, Padova 35121, Italy.
Mondal M; Institute of Genomics, University of Tartu, Tartu 51010, Estonia. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 05. Date of Electronic Publication: 2021 Oct 05.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Autorzy :
Gardner EJ; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton CB10 1SA, UK.
Sifrim A; Department of Human Genetics, KU Leuven, Herestraat 49, Box 602, Leuven 3000, Belgium.
Lindsay SJ; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton CB10 1SA, UK.
Prigmore E; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton CB10 1SA, UK.
Rajan D; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton CB10 1SA, UK.
Danecek P; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton CB10 1SA, UK.
Gallone G; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton CB10 1SA, UK.
Eberhardt RY; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton CB10 1SA, UK.
Martin HC; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton CB10 1SA, UK.
Wright CF; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK.
FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, WGH, Edinburgh EH4 2SP, UK.
Firth HV; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton CB10 1SA, UK; East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton CB10 1SA, UK. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 04. Date of Electronic Publication: 2021 Oct 04.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Autorzy :
Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Fasano G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Gredy S; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany.
Brinkmann J; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
Bonnard AA; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, Paris, France.
Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey.
Gulec EY; Department of Medical Genetics, Health Sciences University, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey.
Essaddam L; Department of Pediatrics-PUC, Béchir Hamza Children's Hospital, Faculty of Medicine, University of Tunis El Manar, Jebbari 1007, Tunis, Tunisia.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey.
Guarnetti Prandi I; Dipartimento per la Innovazione nei Sistemi Biologici, Agroalimentari e Forestali, Università Della Tuscia, 01100 Viterbo, Italy.
Venditti M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Petrini S; Confocal Microscopy Core Facility, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Consoli F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Vignal C; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France.
Hepbasli D; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany.
Ullrich M; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany.
de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Gritli S; Department of Immunology, Pasteur Institute of Tunis, 1002 Tunis-Belvédère, Tunisia.
Rossi C; Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Ben Becher S; Department of Pediatrics-PUC, Béchir Hamza Children's Hospital, Faculty of Medicine, University of Tunis El Manar, Jebbari 1007, Tunis, Tunisia.
Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Lauri A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Chillemi G; Dipartimento per la Innovazione nei Sistemi Biologici, Agroalimentari e Forestali, Università Della Tuscia, 01100 Viterbo, Italy; Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari, Centro Nazionale Delle Ricerche, 70126 Bari, Italy.
Schuh K; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany.
Cavé H; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, Paris, France.
Zenker M; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 01. Date of Electronic Publication: 2021 Oct 01.
Typ publikacji :
Journal Article
Czasopismo naukowe

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