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You search for a phrase ""Madan-Khetarpal S"" according to the criterion: Author


Showing 1-9 from 9 results
Title:
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Authors:
Ballif BC; Signature Genomic Laboratories, Spokane, Washington 99202, USA.
Hornor SA
Jenkins E
Madan-Khetarpal S
Surti U
Jackson KE
Asamoah A
Brock PL
Gowans GC
Conway RL
Graham JM Jr
Medne L
Zackai EH
Shaikh TH
Geoghegan J
Selzer RR
Eis PS
Bejjani BA
Shaffer LG
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Source:
Nature genetics [Nat Genet] 2007 Sep; Vol. 39 (9), pp. 1071-3. Date of Electronic Publication: 2007 Aug 19.
Publication Type:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 16/*genetics
Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Disorders/genetics ; Chromosome Disorders/pathology ; Female ; Genome, Human ; Humans ; In Situ Hybridization, Fluorescence ; Nucleic Acid Hybridization/methods ; Syndrome
Academic Journal
Title:
Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.
Authors:
Hu J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Madan-Khetarpal S
Serrano Russi AH
Kochmar S
Deward SJ
Sathanoori M
Surti U
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Source:
Genetics research international [Genet Res Int] 2011; Vol. 2011, pp. 185271. Date of Electronic Publication: 2011 Jul 17.
Publication Type:
Case Reports
Report
Title:
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
Authors:
Hu J; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
Ou Z; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Infante E; Department of Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224 USA.
Kochmar SJ; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Madan-Khetarpal S; Department of Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224 USA.
Hoffner L; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
Parsazad S; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Surti U; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
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Source:
Molecular cytogenetics [Mol Cytogenet] 2017 Jun 19; Vol. 10, pp. 24. Date of Electronic Publication: 2017 Jun 19 (Print Publication: 2017).
Publication Type:
Case Reports
Report
Title:
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Authors:
Bostwick BL; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA. .
McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Streff HE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Gripp KW; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Blesson A; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Powell-Hamilton N; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Tusi J; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Stevenson DA; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Farrelly E; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Hummel M; Department of Pediatrics, Section of Medical Genetics, West Virginia University Health Sciences Center, Morgantown, WV, USA.
Madan-Khetarpal S; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
Infante E; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Miszalski-Jamka K; Division of Magnetic Resonance Imaging, Silesian Center for Heart Disease, Zabrze, Poland.
Jefferies JL; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Texas Children's Hospital, 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.
Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
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Corporate Authors:
Members of the Undiagnosed Diseases Network
Source:
Genome medicine [Genome Med] 2017 Aug 14; Vol. 9 (1), pp. 73. Date of Electronic Publication: 2017 Aug 14.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Mutation*
Phenotype*
CDC2 Protein Kinase/*genetics
Face/*abnormalities
Heart Defects, Congenital/*metabolism
Intellectual Disability/*metabolism
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Heart Defects, Congenital/genetics ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Syndrome
Academic Journal
Title:
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Authors:
Kim HG; 1Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Rosenfeld JA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.
Scott DA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.; 3Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX USA.
Bénédicte G; 4Laboratoires de Diagnostic Génétique, Unité de génétique moléculaire, Nouvel Hôpital Civil, Strasbourg Cedex, France.
Labonne JD; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.
Brown J; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.
McGuire M; Baylor Genetic Laboratories, Houston, TX USA.
Mahida S; 7Kennedy Krieger Institute, Baltimore, MD USA.
Naidu S; 7Kennedy Krieger Institute, Baltimore, MD USA.
Gutierrez J; 3Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX USA.
Lesca G; 8Department of Medical Genetics, Lyon University Hospital, Lyon, France.
des Portes V; 9Department of Pediatric Neurology, Lyon University Hospital, Lyon, France.
Bruel AL; 10Équipe Génétique des Anomalies du Développement (GAD), INSERM, Dijon, France.
Sorlin A; Centre de Génétique, CHU Dijon Bourgogne, Dijon, France.
Xia F; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.
Capri Y; Service de Génétique Clinique, CHU Robert Debré, Paris, France.
Muller E; 13Clinical Genetics, Stanford Children's Health at CPMC, San Francisco, CA USA.
McKnight D; 14GeneDx, Gaithersburg, MD USA.
Torti E; 14GeneDx, Gaithersburg, MD USA.
Rüschendorf F; 15Max Delbrück Center (MDC) for Molecular Medicine, Berlin, Germany.
Hummel O; 15Max Delbrück Center (MDC) for Molecular Medicine, Berlin, Germany.
Islam Z; 16Diabetes Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University, Doha, Qatar.
Kolatkar PR; 16Diabetes Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University, Doha, Qatar.
Layman LC; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.; 17Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA USA.
Ryu D; 18Department of Statistics and Actuarial Science, Northern Illinois University, DeKalb, IL USA.
Kong IK; 19Department of Animal Science, Division of Applied Life Science (BK21plus), Gyeongsang National University, Jinju, Korea.
Madan-Khetarpal S; 20Pediatric Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA USA.
Kim CH; 21Department of Biology, Chungnam National University, Daejeon, Korea.
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Source:
Molecular autism [Mol Autism] 2019 Oct 22; Vol. 10, pp. 35. Date of Electronic Publication: 2019 Oct 22 (Print Publication: 2019).
Publication Type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Behavior*
Autistic Disorder/*genetics
Craniofacial Abnormalities/*genetics
Epilepsy/*genetics
Histone Deacetylases/*genetics
Intellectual Disability/*genetics
Muscle Hypotonia/*genetics
Adolescent ; Amino Acid Sequence ; Autistic Disorder/complications ; Brain/metabolism ; Child ; Child, Preschool ; Craniofacial Abnormalities/complications ; Epilepsy/complications ; Female ; Histone Deacetylases/chemistry ; Histone Deacetylases/metabolism ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/complications ; Male ; Muscle Hypotonia/complications ; Mutation/genetics ; Protein Domains ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Syndrome
Academic Journal
Title:
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.
Authors:
Ghaloul-Gonzalez L; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA. .; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. .
Mohsen AW; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Karunanidhi A; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Seminotti B; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Chong H; Division of Pulmonology, Allergy and Immunology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Vockley CW; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Reyes-Múgica M; Division of Pediatric Pathology, Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Vander Lugt MT; Division of Blood and Marrow Transplantation and Cellular Therapies, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Vockley J; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
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Source:
Scientific reports [Sci Rep] 2019 Oct 31; Vol. 9 (1), pp. 15739. Date of Electronic Publication: 2019 Oct 31.
Publication Type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Adenylate Kinase/*genetics
Leukopenia/*diagnosis
Mitochondria/*metabolism
Severe Combined Immunodeficiency/*diagnosis
Adenylate Kinase/deficiency ; Bone Marrow/pathology ; Cell Membrane Permeability ; Child, Preschool ; Energy Metabolism ; Fibroblasts/cytology ; Fibroblasts/metabolism ; Homozygote ; Humans ; Leukopenia/genetics ; Male ; Mitochondrial Membranes/metabolism ; Oxygen Consumption ; Pedigree ; Polymorphism, Single Nucleotide ; Reactive Oxygen Species/metabolism ; Severe Combined Immunodeficiency/genetics ; Exome Sequencing
SCR Disease Name:
Reticular dysgenesis
Academic Journal
Title:
Ocular findings of albinism in DYRK1A- related intellectual disability syndrome.
Authors:
Ernst J; UPMC Eye Center , Pittsburgh, PA, USA.; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.; Medical University of Warsaw , Warsaw, Poland.
Alabek ML; UPMC Eye Center , Pittsburgh, PA, USA.; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.
Eldib A; UPMC Eye Center , Pittsburgh, PA, USA.; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.
Madan-Khetarpal S; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.; School of Medicine, University of Pittsburgh , Pittsburgh, PA, USA.
Sebastian J; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.
Bhatia A; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.; School of Medicine, University of Pittsburgh , Pittsburgh, PA, USA.; UPMC Radiology Department at Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.
Liasis A; UPMC Eye Center , Pittsburgh, PA, USA.; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.
Nischal KK; UPMC Eye Center , Pittsburgh, PA, USA.; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.; School of Medicine, University of Pittsburgh , Pittsburgh, PA, USA.
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Source:
Ophthalmic genetics [Ophthalmic Genet] 2020 Dec; Vol. 41 (6), pp. 650-655. Date of Electronic Publication: 2020 Aug 24.
Publication Type:
Case Reports; Journal Article
MeSH Terms:
Haploinsufficiency*
Albinism/*pathology
Intellectual Disability/*pathology
Protein Serine-Threonine Kinases/*genetics
Protein-Tyrosine Kinases/*genetics
Albinism/complications ; Albinism/genetics ; Evoked Potentials, Visual ; Female ; Humans ; Infant ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Retrospective Studies ; Syndrome ; Dyrk Kinases
Academic Journal
Title:
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Authors:
Liao J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Coffman KA; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Locker J; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Padiath QS; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Nmezi B; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Filipink RA; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Hu J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Sathanoori M; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Madan-Khetarpal S; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
McGuire M; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Schreiber A; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
Moran R; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
Friedman N; Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH, USA.
Hoffner L; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Rajkovic A; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Yatsenko SA; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Surti U; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
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Source:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Apr; Vol. 9 (4), pp. e1647. Date of Electronic Publication: 2021 Mar 05.
Publication Type:
Case Reports; Journal Article
MeSH Terms:
Regulatory Sequences, Nucleic Acid*
Chorea/*genetics
Thyroid Nuclear Factor 1/*genetics
Adolescent ; Child ; Chorea/pathology ; Chromosomes, Human, Pair 14/genetics ; Conserved Sequence ; Female ; Humans ; Male ; Pedigree ; Sequence Deletion
Academic Journal
Title:
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Authors:
Gillentine MA; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Rosenfeld J; Baylor Genetics Laboratories, Houston, TX, USA.; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Liu P; Baylor Genetics Laboratories, Houston, TX, USA.
Guo H; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Kim CN; Department of Anatomy, University of California, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.
De Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Nordenskjold M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Gecz J; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
Iascone M; Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy.
Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Scatigno A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Maitz S; Genetic Unit, Department of Pediatrics, Fondazione MBBM S. Gerardo Hospital, Monza, Italy.
Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Schuhmann S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Pepper M; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.
Panjwani H; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.
Torti E; GeneDX, Gaithersburg, MD, USA.
Abid F; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Anselm I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Atwal P; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, FL, USA.
Bacino CA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Bhat G; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
Cobian K; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA.
Friedman J; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA, USA.
Wright MS; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Callewaert B; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.
Petit F; Clinique de Génétique, Hôpital Jeanne de Flandre, Bâtiment Modulaire, CHU, 59037, Lille Cedex, France.
Mathieu S; Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.
Afenjar A; Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.
Christensen CK; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
White KM; Department of Medical and Molecular Genetics, IU Health, Indianapolis, IN, USA.
Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
Berger I; Pediatric Neurology, Assuta-Ashdod University Hospital, Ashdod, Israel.; Health Sciences, Ben-Gurion University of the Negev, Beersheba, Israel.
Espineli EJ; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Hansen LK; H C Andersen Chilldrens Hospital, Odense University Hospital, Odense, Denmark.
Feyma T; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA.
Hughes S; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.
Thiffault I; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.
Sullivan B; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.
Yan S; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.
Keller K; Oregon Health & Science University, Corvallis, OR, USA.
Keren B; Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.
Mignot C; Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.
Kooy F; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Meuwissen M; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Basinger A; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Kukolich M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Philips M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Ortega L; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Drummond-Borg M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Lauridsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Sorensen K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; BC Children's Hospital and BC Women's Hospital, Vancouver, BC, Canada.
Lopez-Rangel E; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Division of Developmental Pediatrics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.; Sunny Hill Health Centre for Children, Vancouver, BC, Canada.
Levy P; Department of Pediatrics, The Children's Hospital at Montefiore, Bronx, NY, USA.
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lotze T; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.
Madan-Khetarpal S; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Sebastian J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Vento J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Vats D; Kaiser Permanente Southern California, Los Angeles, CA, USA.
Benman LM; The Permanente Medical Group, Oakland, CA, USA.
Mckee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Muss C; Al Dupont Hospital for Children, Wilmington, DE, USA.
Pappas J; NYU Grossman School of Medicine, Department of Pediatrics, Clinical Genetic Services, New York, NY, USA.
Peeters H; Center for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.
Romano C; Oasi Research Institute-IRCCS, Troina, Italy.
Elia M; Oasi Research Institute-IRCCS, Troina, Italy.
Galesi O; Oasi Research Institute-IRCCS, Troina, Italy.
Simon MEH; Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.
van Gassen KLI; Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.
Simpson K; Rare Disease Institute, Children's National Health System, Washington, DC, USA.
Stratton R; Department of Genetics, Driscoll Children's Hospital, Corpus Christi, TX, USA.
Syed S; Department of Pediatric Gastroenterology, Driscoll Children's Hospital, Corpus Christi, TX, USA.
Thevenon J; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebrón, Barcelona, Spain.
Palafoll IV; Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, France.
Vitobello A; UF Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne and INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, F-21000, Dijon, France.; INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.
Bournez M; Centre de Référence Maladies Rares « déficience intellectuelle », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.
Faivre L; INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.
Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Earl RK; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Nowakowski T; Department of Anatomy, University of California, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.
Bernier RA; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA. .; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. .
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Corporate Authors:
CAUSES Study
SPARK Consortium
Source:
Genome medicine [Genome Med] 2021 Apr 19; Vol. 13 (1), pp. 63. Date of Electronic Publication: 2021 Apr 19.
Publication Type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Heterogeneous-Nuclear Ribonucleoproteins/*genetics
Mutation/*genetics
Neurodevelopmental Disorders/*genetics
Brain/metabolism ; DNA Copy Number Variations/genetics ; Gene Expression Regulation ; Genetic Association Studies ; Genetic Variation ; Heterogeneous-Nuclear Ribonucleoproteins/metabolism ; Humans ; Inheritance Patterns/genetics ; Mutation, Missense/genetics ; Phenotype ; RNA Processing, Post-Transcriptional/genetics ; Single-Cell Analysis
Academic Journal
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