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Tytuł :
The Genomic Landscape of Pediatric Rheumatology Disorders in the Middle East.
Autorzy :
Fathalla BM; Rhematology Department, Al Jalila Children's Specialty Hospital, Dubai, UAE.
Alsarhan A; Pediatric Residency Program, Al Jalila Children's Specialty Hospital, Dubai, UAE.
Afzal S; Oncology & hematology Department, Al Jalila Children's Specialty Hospital, Dubai, UAE.
El Naofal M; Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, UAE.
Tayoun AA; Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, UAE.; Genetics Department, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE.
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Źródło :
Human mutation [Hum Mutat] 2021 Jan 13. Date of Electronic Publication: 2021 Jan 13.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism.
Autorzy :
Saint-Martin C; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Mière MC; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Rex E; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, Oregon, USA.
Soukarieh O; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Arnoux JB; Department of Inherited Metabolic Disease, Necker-Enfants Malades University Hospital, AP-HP, Paris, France.
Buratti J; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Bouvet D; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Frébourg T; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Gaildrat P; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Shyng SL; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, Oregon, USA.
Bellanné-Chantelot C; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Martins A; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
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Źródło :
Human mutation [Hum Mutat] 2021 Jan 07. Date of Electronic Publication: 2021 Jan 07.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Mutations in KIF7 Implicated in Idiopathic Scoliosis in Humans and Axial Curvatures in Zebrafish.
Autorzy :
Terhune EA; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO.
Cuevas MT; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO.
Monley AM; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO.; Musculoskeletal Research Center, Children's Hospital Colorado, Aurora, CO.
Wethey CI; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO.
Chen X; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO.
Cattel MV; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO.
Bayrak MN; Department of Nutritional Sciences, The University of Texas at Austin, Dell Pediatrics Research Institute, Austin, TX.
Bland MR; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO.
Sutphin B; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO.
Devon Trahan G; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO.
Taylor MRG; Department of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, CO.
Niswander LA; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO.; Department of Molecular, Cellular and Developmental Biology, University of Colorado Boulder, Boulder, CO.
Jones KL; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO.
Baschal EE; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO.
Antunes L; Department of Orthopedics, Washington University School of Medicine, St. Louis, MO.
Dobbs M; Department of Orthopedics, Washington University School of Medicine, St. Louis, MO.
Gurnett C; Department of Neurology, Washington University School of Medicine, St. Louis, MO.
Appel B; Department of Molecular, Cellular and Developmental Biology, University of Colorado Boulder, Boulder, CO.
Gray R; Department of Nutritional Sciences, The University of Texas at Austin, Dell Pediatrics Research Institute, Austin, TX.
Miller NH; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO.; Musculoskeletal Research Center, Children's Hospital Colorado, Aurora, CO.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec 31. Date of Electronic Publication: 2020 Dec 31.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
GeneBreaker - Variant simulation to improve the diagnosis of Mendelian rare genetic diseases.
Autorzy :
Richmond PA; Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.
Av-Shalom TV; Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.
Fornes O; Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.
Modi B; Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.
Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, V5Z 4H4, Canada.
Wasserman WW; Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec 25. Date of Electronic Publication: 2020 Dec 25.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Autorzy :
Mori T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Chiga M; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Fujimaru T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Kawamoto R; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Mandai S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Nanamatsu A; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Nomura N; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Ando F; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Susa K; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Sohara E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Rai T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Uchida S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec 21. Date of Electronic Publication: 2020 Dec 21.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Autorzy :
Stenton SL; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.
Piekutowska-Abramczuk D; Department of Medical Genetics, Children's Memorial Health Institute (CMHI) Warsaw, Warsaw, Poland.
Kulterer L; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.
Kopajtich R; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.
Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.
Ciara E; Department of Medical Genetics, Children's Memorial Health Institute (CMHI) Warsaw, Warsaw, Poland.
Eisen J; Klinikum Frankfurt Höchst, Frankfurt, Germany.
Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Pronicka E; Department of Medical Genetics, Children's Memorial Health Institute (CMHI) Warsaw, Warsaw, Poland.
Malczyk K; Department of Diagnostic Imaging, Children's Memorial Health Institute (CMHI) Warsaw, Warsaw, Poland.
Wagner M; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.
Wortmann SB; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; Radboud Centre for Mitochondrial Diseases (RCMM), Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.
Prokisch H; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec 21. Date of Electronic Publication: 2020 Dec 21.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency.
Autorzy :
Masson E; Inserm, Univ Brest, EFS, UMR 1078, GGB, Brest, France.; CHRU Brest, Brest, France.
Férec C; Inserm, Univ Brest, EFS, UMR 1078, GGB, Brest, France.; CHRU Brest, Brest, France.
Chen JM; Inserm, Univ Brest, EFS, UMR 1078, GGB, Brest, France.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec 16. Date of Electronic Publication: 2020 Dec 16.
Typ publikacji :
Letter
Opinia redakcyjna
Tytuł :
Functional and clinical implications of genetic structure in 1686 Italian exomes.
Autorzy :
Birolo G; Department of Medical Sciences, University of Turin, Turin, Italy.
Aneli S; Department of Medical Sciences, University of Turin, Turin, Italy.
Di Gaetano C; Department of Medical Sciences, University of Turin, Turin, Italy.
Cugliari G; Department of Medical Sciences, University of Turin, Turin, Italy.
Russo A; Department of Medical Sciences, University of Turin, Turin, Italy.
Allione A; Department of Medical Sciences, University of Turin, Turin, Italy.
Casalone E; Department of Medical Sciences, University of Turin, Turin, Italy.
Giorgio E; Department of Medical Sciences, University of Turin, Turin, Italy.
Paraboschi EM; Department of Biomedical Sciences, Humanitas University, Rozzano, Milan, Italy.; Humanitas Clinical and Research Center - IRCCS, Rozzano, Milan, Italy.
Ardissino D; Division of Cardiology, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy.
Duga S; Department of Biomedical Sciences, Humanitas University, Rozzano, Milan, Italy.; Humanitas Clinical and Research Center - IRCCS, Rozzano, Milan, Italy.
Asselta R; Department of Biomedical Sciences, Humanitas University, Rozzano, Milan, Italy.; Humanitas Clinical and Research Center - IRCCS, Rozzano, Milan, Italy.
Matullo G; Department of Medical Sciences, University of Turin, Turin, Italy.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec 16. Date of Electronic Publication: 2020 Dec 16.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Autorzy :
Felicio PS; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
Grasel RS; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
Campacci N; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
de Paula AE; Center of Molecular Diagnosis, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.
Galvão HCR; Department of Oncogenetics, Barretos Cancer Hospital, Barretos, Brazil.
Torrezan GT; Genomics and Molecular Biology Group, CIPE - A. C. Camargo Cancer Center, São Paulo, Brazil.
Sabato CS; Center of Molecular Diagnosis, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.
Fernandes GC; Center of Molecular Diagnosis, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.
Souza CP; Department of Oncogenetics, Barretos Cancer Hospital, Barretos, Brazil.
Michelli RD; Department of Oncogenetics, Barretos Cancer Hospital, Barretos, Brazil.
Andrade CE; Department of Oncogenetics, Barretos Cancer Hospital, Barretos, Brazil.
Barros BDF; Genomics and Molecular Biology Group, CIPE - A. C. Camargo Cancer Center, São Paulo, Brazil.
Matsushita MM; Department of Pathology, Barretos Cancer Hospital Barretos, Sao Paulo, Brazil.
Revil T; Department of Human Genetics, McGill University, Montreal, Canada.
Ragoussis J; Department of Human Genetics, McGill University, Montreal, Canada.; McGill Genome Centre, University of McGill, Montreal, Canada.
Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.
Hart SN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.
Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.; Center of Molecular Diagnosis, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.; Life and Health Sciences Research Institute (ICVS), Medical School, University of Minho, Braga, Portugal.; ICVS/3B's-PT Government Associate Laboratory, Braga, Guimarães, Portugal.
Melendez ME; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.; Pele Little Prince Research Institute, Curitiba, Brazil.; Faculdades Pequeno Príncipe, Curitiba, Brazil.
Tonin PN; Department of Human Genetics, McGill University, Montreal, Canada.; Department of Medicine, McGill University, Montreal, Canada.; Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Canada.
Carraro DM; Genomics and Molecular Biology Group, CIPE - A. C. Camargo Cancer Center, São Paulo, Brazil.; Genomic Diagnostic Center, AC Camargo Cancer Center, São Paulo, Brazil.
Palmero EI; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.; Center of Molecular Diagnosis, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.; Pele Little Prince Research Institute, Curitiba, Brazil.; Faculdades Pequeno Príncipe, Curitiba, Brazil.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec 16. Date of Electronic Publication: 2020 Dec 16.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.
Autorzy :
Sullivan T; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, 21702, USA.
Thirthagiri E; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, 21702, USA.; Servier, Kuala Lumpur, Malaysia.; Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
Chong CE; Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
Stauffer S; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, 21702, USA.
Reid S; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, 21702, USA.
Southon E; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, 21702, USA.
Hassan T; Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
Ravichandran A; National Center for Biological Sciences, Tata Institute of Fundamental Research, Bangalore, Karnataka, India.; SASTRA University, Thirumalaisamudram, Thanjavur, Tamil Nadu, India.
Wijaya E; Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
Lim J; Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
Taib NAM; Breast Cancer Research Unit, UM Cancer Research Institute, University of Malaya Medical Center, Kuala Lumpur, Malaysia.
Fadzli F; Breast Cancer Research Unit, UM Cancer Research Institute, University of Malaya Medical Center, Kuala Lumpur, Malaysia.
Yip CH; Subang Jaya Medical Center, Subang Jaya, Malaysia.
Hartman M; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore.
Li J; Genome Institute of Singapore, Human Genetics, Singapore, Singapore.; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore.
van Dam RM; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.
North SL; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, 21702, USA.
Das R; National Center for Biological Sciences, Tata Institute of Fundamental Research, Bangalore, Karnataka, India.
Easton DF; Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Biswas K; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, 21702, USA.
Teo SH; Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.; Breast Cancer Research Unit, UM Cancer Research Institute, University of Malaya Medical Center, Kuala Lumpur, Malaysia.
Sharan SK; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, 21702, USA.
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Corporate Authors :
SGBCC Investigators
MYBRCA Investigators
Źródło :
Human mutation [Hum Mutat] 2020 Dec 13. Date of Electronic Publication: 2020 Dec 13.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Autorzy :
Peter VG; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Institute of Experimental Pathology, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Sadio S; Department of Ophthalmology, Instituto de Oftalmologia Dr. Gama Pinto, Lisbon, Portugal.
Held S; Department of Biochemistry, University of Kiel, Kiel, Germany.
Rodrigues M; Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML), Lisbon, Portugal.
Soares M; Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML), Lisbon, Portugal.
Sousa AB; Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML), Lisbon, Portugal.; Department of Basic Immunology, Medical Faculty, University of Lisbon, Lisbon, Portugal.
Coutinho Santos L; Department of Ophthalmology, Instituto de Oftalmologia Dr. Gama Pinto, Lisbon, Portugal.
Damme M; Department of Biochemistry, University of Kiel, Kiel, Germany.
Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec 10. Date of Electronic Publication: 2020 Dec 10.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Autorzy :
Fortuno C; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Lee K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Olivier M; International Agency for Research on Cancer, Lyon, France.
Pesaran T; Ambry Genetics, Aliso Viejo, California, USA.
Mai PL; Magee-Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
de Andrade KC; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Attardi LD; Departments of Radiation-Oncology and Genetics, Stanford University, Stanford, California, USA.
Crowley S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Evans DG; University of Manchester, Manchester, UK.
Feng BJ; University of Utah, Salt Lake City, Utah, USA.
Foreman AKM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Huether R; Tempus, Chicago, Illinois, USA.
James PA; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia.
McGoldrick K; Ambry Genetics, Aliso Viejo, California, USA.
Mester J; GeneDx, Gaithersburg, Maryland, USA.
Seifert BA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Slavin TP; City of Hope, Duarte, California, USA.
Witkowski L; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Maryland, USA.
Zhang L; Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Plon SE; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.
Spurdle AB; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
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Corporate Authors :
ClinGen TP53 Variant Curation Expert Panel
Źródło :
Human mutation [Hum Mutat] 2020 Dec 10. Date of Electronic Publication: 2020 Dec 10.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Identification of SRSF10 as a regulator of SMN2 ISS-N1.
Autorzy :
Frederiksen SB; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Holm LL; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Larsen MR; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Doktor TK; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Andersen HS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Hastings ML; Department of Cell Biology and Anatomy, Center for Genetic Diseases, Chicago Medical School and School of Graduate and Postdoctoral Studies, Rosalind Franklin University of Medicine and Science, North Chicago, Illinois, USA.
Hua Y; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.
Krainer AR; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.
Andresen BS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec 10. Date of Electronic Publication: 2020 Dec 10.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Autorzy :
Castiglioni C; Department of Pediatric Neurology, Rare Disease Center, Clínica Las Condes, Santiago, Chile.
Feillet F; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, Nancy, France.; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.
Barnerias C; Pediatric Neurology Department, Center de Référence Maladies Neuromusculaires (GNMH), Necker University Hospital, AP-HP, Paris, France.
Wiedemann A; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, Nancy, France.; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.
Muchart J; Department of Radiology, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Cortes F; Pediatric Department. Rare Diseases Center, Clínica Las Condes, Santiago, Chile.
Hernando-Davalillo C; Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.
Montero R; Clinical Biochemistry Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; Unit-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain.
Dupré T; Service de Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, AP-HP, Paris, France.; INSERM UMR_S 1149, Faculté de Médecine Xavier Bichat, Université de Paris, Paris, France.
Bruneel A; Service de Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, AP-HP, Paris, France.; INSERM UMR1193, 'Mécanismes cellulaires et moléculaires de l'adaptation au stress et cancérogenèse', Université Paris-Sud, Châtenay-Malabry, France.
Seta N; Service de Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, AP-HP, Paris, France.
Vuillaumier-Barrot S; Service de Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, AP-HP, Paris, France.
Serrano M; Unit-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain.; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec 10. Date of Electronic Publication: 2020 Dec 10.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A commentary on "A Vietnamese human genetic variation database".
Autorzy :
F Johnson A
T Ngo L
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Źródło :
Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2217. Date of Electronic Publication: 2020 Oct 27.
Typ publikacji :
Published Erratum
Tytuł :
Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome.
Autorzy :
Pearman CM; Department of Cardiac Electrophysiology and Inherited Cardiac Conditions, Liverpool Heart and Chest Hospital, Liverpool, UK.; Unit of Cardiac Physiology, Division of Cardiovascular Sciences, Manchester Academic Health Science Centre, Core Technology Facility, University of Manchester, Manchester, UK.
Denham NC; Department of Cardiac Electrophysiology and Inherited Cardiac Conditions, Liverpool Heart and Chest Hospital, Liverpool, UK.; Unit of Cardiac Physiology, Division of Cardiovascular Sciences, Manchester Academic Health Science Centre, Core Technology Facility, University of Manchester, Manchester, UK.
Mills RW; Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, Massachusetts, USA.
Ding WY; Department of Cardiac Electrophysiology and Inherited Cardiac Conditions, Liverpool Heart and Chest Hospital, Liverpool, UK.; Liverpool Centre for Cardiovascular Science, Faculty of Life Sciences, University of Liverpool, Liverpool, UK.
Modi SS; Department of Cardiac Electrophysiology and Inherited Cardiac Conditions, Liverpool Heart and Chest Hospital, Liverpool, UK.
Hall MCS; Department of Cardiac Electrophysiology and Inherited Cardiac Conditions, Liverpool Heart and Chest Hospital, Liverpool, UK.
Todd DM; Department of Cardiac Electrophysiology and Inherited Cardiac Conditions, Liverpool Heart and Chest Hospital, Liverpool, UK.
Mahida S; Department of Cardiac Electrophysiology and Inherited Cardiac Conditions, Liverpool Heart and Chest Hospital, Liverpool, UK.; Liverpool Centre for Cardiovascular Science, Faculty of Life Sciences, University of Liverpool, Liverpool, UK.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2195-2204. Date of Electronic Publication: 2020 Nov 11.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Autorzy :
Montenegro-Garreaud X; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.; División de Investigación, Instituto de Medicina Genética, Lima, Perú.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Hansen AW; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Chander V; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Jiang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Kessler E; Division of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Jayaseelan J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Shen H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Meng Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Madan-Khetarpal S; Division of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.
Abarca-Barriga H; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.; Facultad de Ciencias de la Salud, Medicina Humana, Universidad Científica del Sur, Lima, Perú.
Trubnykova M; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.; Area Preclínica, Facultad de Ciencias de la Salud, Universidad Peruana de Ciencias Aplicadas, Lima, Perú.
Gingras MC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA.
Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.
Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2094-2104. Date of Electronic Publication: 2020 Oct 08.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Rescue of common exon-skipping mutations in cystic fibrosis with modified U1 snRNAs.
Autorzy :
Donegà S; Human Molecular Genetics, ICGEB - International Center for Genetic Engineering and Biotechnology, Trieste, Italy.
Rogalska ME; Human Molecular Genetics, ICGEB - International Center for Genetic Engineering and Biotechnology, Trieste, Italy.
Pianigiani G; Human Molecular Genetics, ICGEB - International Center for Genetic Engineering and Biotechnology, Trieste, Italy.
Igreja S; BioISI - Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisbon, Lisbon, Portugal.
Amaral MD; BioISI - Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisbon, Lisbon, Portugal.
Pagani F; Human Molecular Genetics, ICGEB - International Center for Genetic Engineering and Biotechnology, Trieste, Italy.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2143-2154. Date of Electronic Publication: 2020 Oct 14.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern.
Autorzy :
Yanagishita T; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.; Department of Genomic Medicine, Tokyo Women's Medical University, Tokyo, Japan.
Imaizumi T; Department of Genomic Medicine, Tokyo Women's Medical University, Tokyo, Japan.; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
Yamamoto-Shimojima K; Department of Genomic Medicine, Tokyo Women's Medical University, Tokyo, Japan.
Yano T; Department of Pediatrics, Akita University, Akita, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Nagata S; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Yamamoto T; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.; Department of Genomic Medicine, Tokyo Women's Medical University, Tokyo, Japan.; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.; Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2119-2127. Date of Electronic Publication: 2020 Sep 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Autorzy :
Epting D; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.
Senaratne LDS; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.
Ott E; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.
Holmgren A; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.
Sumathipala D; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.
Larsen SM; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, University of Oslo, Oslo, Norway.
Wallmeier J; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Münster, Germany.
Bracht D; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Münster, Germany.
Frikstad KM; Department of Radiation Biology, Division of Cancer Medicine, Surgery and Transplantation, Institute for Cancer Research, Oslo University Hospitals-Norwegian Radium Hospital, Oslo, Norway.
Crowley S; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, University of Oslo, Oslo, Norway.
Sikiric A; Department of Neurohabilitation, Oslo University Hospital, Oslo, Norway.
Barøy T; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.
Käsmann-Kellner B; Section of Pediatric Ophthalmology and Low Vision, Department of Ophthalmology, University of Saarland, Homburg, Germany.
Decker E; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.
Decker C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.
Bachmann N; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.
Patzke S; Department of Radiation Biology, Division of Cancer Medicine, Surgery and Transplantation, Institute for Cancer Research, Oslo University Hospitals-Norwegian Radium Hospital, Oslo, Norway.
Phelps IG; Department of Pediatrics, Seattle Children's Research Institute, University of Washington, Seattle, Washington, USA.
Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.
Giles R; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.
Schmidts M; International Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.
Zucknick M; Oslo Centre for Biostatistics and Epidemiology, Institute for Basic Medical Sciences, University of Oslo, Oslo, Norway.
Lienkamp SS; Institute of Anatomy, University of Zurich, Zurich, Switzerland.
Omran H; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Münster, Germany.
Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.
Doherty D; Department of Pediatrics, Seattle Children's Research Institute, University of Washington, Seattle, Washington, USA.
Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, University of Oslo, Oslo, Norway.
Frengen E; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.
Bergmann C; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.
Misceo D; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.
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Źródło :
Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2179-2194. Date of Electronic Publication: 2020 Nov 01.
Typ publikacji :
Journal Article
Czasopismo naukowe

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