Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.

Autor: Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Rexach JE; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Aynekin B; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Per H; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Güleç A; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India., Sampaio H; Department of Women and Children's Health, University of New South Wales, Randwick Campus, Randwick, NSW, Australia.; Sydney Children's Hospital, Randwick, NSW, Australia., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia., Stoeva R; Department of Medical Genetics, Le Mans Hospital, Le Mans, France., Myers K; Division of Bone Marrow Transplant, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Pena LDM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Kalfa TA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Chard M; Provincial Medical Genetics Program, Newfoundland and Labrador Health Services, St. John's, NL, Canada.; Department of Pediatrics, Memorial University Faculty of Medicine, St. John's, NL, Canada., Klassen M; Provincial Medical Genetics Program, Newfoundland and Labrador Health Services, St. John's, NL, Canada., Pries M; Provincial Medical Genetics Program, Newfoundland and Labrador Health Services, St. John's, NL, Canada., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kkutsche@uke.de.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 May; Vol. 32 (5), pp. 558-566. Date of Electronic Publication: 2024 Feb 19.

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.

Autor: Hu X; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Baker EK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Ave, Cincinnati, OH, USA., Johnson J; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Balow S; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Ave, Cincinnati, OH, USA., Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Ave, Cincinnati, OH, USA., Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Guan Q; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Ave, Cincinnati, OH, USA., Smolarek TA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. teresa.smolarek@cchmc.org.; Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Ave, Cincinnati, OH, USA. teresa.smolarek@cchmc.org.

Publikováno v: Molecular cytogenetics [Mol Cytogenet] 2022 Mar 05; Vol. 15 (1), pp. 10. Date of Electronic Publication: 2022 Mar 05.

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Autor: Brunet T; Institute of Human Genetics, Technical University Munich, Munich, Germany. theresa.brunet@mri.tum.de., McWalter K; GeneDx, Inc., Gaithersburg, MD, USA., Mayerhanser K; Institute of Human Genetics, Technical University Munich, Munich, Germany., Anbouba GM; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Armstrong-Javors A; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA, USA., Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Baugh E; Institute for Genomic Medicine, Columbia University, New York, NY, USA., Begtrup A; GeneDx, Inc., Gaithersburg, MD, USA., Bupp CP; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA., Callewaert BL; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Del Rey Jimenez JC; St George's Genomics Service, St George's University Hospitals NHS FT, London, UK., Demmer L; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA., Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA., Fleischer N; FDNA Inc., Boston, MA, USA., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Ghate S; St Vincent Hospital Medical Genetics Clinic, Green Bay, WI, USA., Graf E; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Green A; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Green SR; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Springdale, AR, USA., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Kdissa A; CENTOGENE AG, Rostock, Germany., Klee D; Department of Diagnostic and Interventional Radiology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Lancaster E; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA., Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria., McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, London, UK., Meeks NJL; Department of Pediatrics, Section of Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Mittag D; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA., Moore H; INTEGRIS Pediatric Specialties/Medical Genetics, Oklahoma City, OK, USA., Olsen AK; Department of Pediatric, Soerlandet Sykehus Kristiansand, Kristiansand, Norway., Ortiz D; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Parsons G; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Person RE; GeneDx, Inc., Gaithersburg, MD, USA., Punj S; GeneDx, Inc., Gaithersburg, MD, USA., Ramos-Rivera GA; Department of Pediatric Neurology, National Institute of Children's Diseases, Bratislava, Slovakia., Sacoto MJG; GeneDx, Inc., Gaithersburg, MD, USA., Bradley Schaefer G; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Springdale, AR, USA., Schnur RE; GeneDx, Inc., Gaithersburg, MD, USA., Scott TM; Texas Children's Hospital, Houston, TX, USA.; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, UT, USA., Scott DA; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA., Serbinski CR; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Siu VM; Department of Pediatrics, Western University, London, ON, Canada., Stadheim BF; Department of Clinical Genetics, Oslo University Hospital, Oslo, Norway., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Švantnerová J; Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia., Velsher L; Genetics Program, North York General Hospital, Toronto, ON, Canada., Wargowski DS; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; St Vincent Hospital Medical Genetics Clinic, Green Bay, WI, USA., Wentzensen IM; GeneDx, Inc., Gaithersburg, MD, USA., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Winkelmann J; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Neurogenetics, Technische Universität München, Munich, Germany., Yap P; Genetic Health Service New Zealand (Northern Hub), Auckland, New Zealand.; Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand., Zech M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Meitinger T; Institute of Human Genetics, Technical University Munich, Munich, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany., Wagner M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 384-395. Date of Electronic Publication: 2020 Nov 11.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Autor: Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia., Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA., Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA., Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia., Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA., Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA., Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA., Seeley A; Geisinger Medical Center, Danville, PA, USA., Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA., Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA., Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA., Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal., Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA., Basel D; Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA., Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA., Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA., Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA., Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia., Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA., Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA., Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA., Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK., Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK., Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK., McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK., Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK., Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK., Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK., Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK., Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia., Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 May; Vol. 22 (5), pp. 878-888. Date of Electronic Publication: 2020 Jan 17.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Autor: Kishnani PS; Duke University Medical Center, Durham, NC, USA. priya.kishnani@duke.edu., Gibson JB; Dell Children's Medical Group, Austin, TX, USA., Gambello MJ; Emory University School of Medicine, Atlanta, GA, USA., Hillman R; University of Missouri Child Health, Columbia, MO, USA., Stockton DW; Children's Hospital of Michigan and Wayne State University, Detroit, MI, USA., Kronn D; New York Medical College, Valhalla, NY, USA., Leslie ND; Cincinnati Children's Hospital, Cincinnati, OH, USA., Pena LDM; Duke University Medical Center, Durham, NC, USA.; Cincinnati Children's Hospital, Cincinnati, OH, USA.; University of Cincinnati College of Medicine, Cincinnati, OH, USA., Tanpaiboon P; Children's National Health System, Washington, DC, USA., Day JW; Stanford University, Stanford, CA, USA., Wang RY; Children's Hospital of Orange County, Orange, CA, USA.; University of California-Irvine School of Medicine, Irvine, CA, USA., Goldstein JL; Duke University Medical Center, Durham, NC, USA., An Haack K; Sanofi Genzyme, Cambridge, MA, USA., Sparks SE; Sanofi Genzyme, Cambridge, MA, USA., Zhao Y; Sanofi Genzyme, Cambridge, MA, USA., Hahn SH; Seattle Children's Hospital/University of Washington, Seattle, WA, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2543-2551. Date of Electronic Publication: 2019 May 14.