An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.

Autor: Starosta RT; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Larson AA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Meeks NJL; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Gracie S; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Friederich MW; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Gaughan SM; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Baker PR 2nd; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Knupp KG; Department of Pediatrics, Section of Pediatric Neurology, University of Colorado, Aurora, CO, USA., Michel CR; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Reisdorph R; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Wood T; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA. Electronic address: Johan.Vanhove@childrenscolorado.org.

Publikováno v: Mitochondrion [Mitochondrion] 2024 Nov; Vol. 79, pp. 101973. Date of Electronic Publication: 2024 Oct 15.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

Autor: Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: shiatt@hudsonalpha.org., Trajkova S; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Sebastiano MR; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Partridge EC; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Abidi FE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Anderson A; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Azadi A; Obestetrics and Gynecology Department, Golestan University of Medical Sciences, Gorgan, Iran., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland., Bartuli A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Benech C; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France., Berkowitz JL; GeneDx, LLC, Gaithersburg, MD 20877, USA., Betti MJ; Vanderbilt University Medical Center, Nashville, TN 37232, USA., Brusco A; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Caron G; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Chen Y; GeneDx, LLC, Gaithersburg, MD 20877, USA., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Coleman TF; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Crenshaw MM; Pediatrics and Medical Genetics, University of Colorado, Aurora CO, USA., Cuisset L; Service de Médecine Génomique des Maladies de Système et d'Organe, Département Médico-Universitaire BioPhyGen, Hôpital Cochin, APHP, Université Paris Cité, Paris, France., Curry CJ; Genetic Medicine, UCSF/Fresno, Fresno, CA 93701, USA., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran; Nikagene Genetic Diagnostic Laboratory, Gorgan, Golestan, Iran., Demirdas S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Descartes M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Douglas J; Boston Children's Hospital, Boston, MA, USA., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Elloumi HZ; GeneDx, LLC, Gaithersburg, MD 20877, USA., Ermondi G; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Faoucher M; Service de Génétique Moléculaire et Génomique, CHU, Rennes 35033, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes 35000, France., Farrow EG; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Fisher H; Children's Medical Center, Dallas, TX, USA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL 35806, USA., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Leadem BR; GeneDx, LLC, Gaithersburg, MD 20877, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Macchiaiolo M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First faculty of Medicine, Charles University, Prague, Czech Republic., Mandrile G; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, University of Torino, Orbassano, Italy., Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., McEown M; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Meadows SK; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Medne L; Childrens Hospital of Philadelphia, Philadelphia, PA, USA., Meeks NJL; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Montgomery S; Division of Genetics and Metabolism, Children's Health, Dallas, TX, USA., Napier MP; GeneDx, LLC, Gaithersburg, MD 20877, USA., Natowicz M; Pathology & Laboratory Medicine, Genomic Medicine, Neurological and Pediatrics Institutes, Cleveland Clinic, Cleveland, OH, USA., Newberry KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Noskova L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Nowak CB; Boston Children's Hospital, Boston, MA, USA., Noyes AG; GeneDx, LLC, Gaithersburg, MD 20877, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Pugh J; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Pullano V; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Quélin C; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France., Rahimi-Aliabadi S; Department of Pharmacology and Toxicology, College of Pharmacy, University of Utah, Salt Lake City, UT 84112, USA., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland; University Children's Hospital Zurich, University of Zurich, Zurich 8032, Switzerland., Redon S; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Schwager CR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Sellars EA; Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA., Scheuerle AE; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA., Shukarova-Angelovska E; Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia., Skraban C; Childrens Hospital of Philadelphia, Philadelphia, PA, USA., Stolerman E; Greenwood Genetic Center, Greenwood, SC 29646, USA., Sullivan BR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Thiffault I; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA., Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France., Umaña LA; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., van der Crabben SN; Amsterdam University Medical Centers, Department of Clinical Genetics, Amsterdam, the Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, VU University Amsterdam, Amsterdam, The Netherlands; Amsterdam Neuroscience, Amsterdam, The Netherlands., Washington C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Rodan LH; Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA 02115, USA., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Feb 02; Vol. 110 (2), pp. 215-227. Date of Electronic Publication: 2022 Dec 30.

ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.

Autor: Hunter JE; Genomics, Ethics, and Translational Research Program, RTI International, ResearchTriangle Park, NC. Electronic address: jehunter@rti.org., Jenkins CL; Department of Translational and Applied Genomics (TAG), Kaiser Permanente Center for Health Research, Portland, OR., Bulkley JE; Department of Translational and Applied Genomics (TAG), Kaiser Permanente Center for Health Research, Portland, OR., Gilmore MJ; Department of Translational and Applied Genomics (TAG), Kaiser Permanente Center for Health Research, Portland, OR., Lee K; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC., Pak CM; Department of Translational and Applied Genomics (TAG), Kaiser Permanente Center for Health Research, Portland, OR., Wallace KE; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC., Buchanan AH; Genomic Medicine Institute, Geisinger, Danville, PA., Foreman AKM; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC., Freed AS; Department of Clinical Science, Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, CA., Goehringer S; Genomic Medicine Institute, Geisinger, Danville, PA., Manickam K; Division of Genetic and Genomic Medicine, Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH; The Ohio State University College of Medicine, Columbus, OH., Meeks NJL; Section of Genetics and Metabolism, Department of Pediatrics, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO., Ramos EM; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Shah N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Steiner RD; School of Medicine and Public Health, University of Wisconsin, Madison, WI., Subramanian SL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Trotter T; John Muir Health, Walnut Creek, CA., Webber EM; Kaiser Permanente Center for Health Research, Portland, OR., Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA., Goddard KAB; Department of Translational and Applied Genomics (TAG), Kaiser Permanente Center for Health Research, Portland, OR., Powell BC; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1328-1335. Date of Electronic Publication: 2022 Mar 25.

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.

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Autor: Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., Eklund EA; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Department of Clinical Sciences, Lund, Pediatrics, Lund University, Lund, Sweden., Shiryaev SA; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., Dong YY; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Abbott MA; Department of Pediatrics, Baystate Children's Hospital, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA., Asteggiano C; CEMECO-CONICET, Children Hospital, School of Medicine, National University of Cordoba, Cordoba, Argentina.; Chair of Pharmacology, Catholic University of Cordoba, Cordoba, Argentina., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Barr E; Department of Human Genetics, Emory University, Atlanta, Georgia, USA., Bernstein JA; Stanford University School of Medicine, Stanford, California, USA.; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA., Chelakkadan S; Monash Children's Hospital, Melbourne, Australia., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia., Chung WK; Department of Pediatrics, Columbia University, New York, New York, USA.; Department of Medicine, Columbia University, New York, New York, USA., Ciliberto MA; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Cousin J; Section of Human Biochemical Genetics, National Human Genome Research Institute, Bethesda, Maryland, USA., Gardiner F; University of Melbourne, Austin Health, Melbourne, Australia., Ghosh S; Department of Pediatrics Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, Florida, USA., Graf WD; Division of Pediatric Neurology, Department of Pediatrics, Connecticut Children's; University of Connecticut, Farmington, Connecticut, USA., Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, NIHR Biomedical Research Center, London, UK., Hammond K; Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Hauser NS; Inova Translational Medicine Institute Division of Medical Genomics Inova Fairfax Hospital Falls Church, Virginia, USA., Hoganson GE; Department of Pediatrics, University of Illinois at Chicago, Chicago, Illinois, USA., Houck KM; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA., Kohler JN; Stanford University School of Medicine, Stanford, California, USA.; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Larson AA; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Madathil S; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., McCormack C; Stanford University School of Medicine, Stanford, California, USA.; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA., Meeks NJL; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, USA., Miller R; Inova Translational Medicine Institute Division of Medical Genomics Inova Fairfax Hospital Falls Church, Virginia, USA., Monaghan KG; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Palculict TB; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Papazoglu GM; CEMECO-CONICET, Children Hospital, School of Medicine, National University of Cordoba, Cordoba, Argentina., Pletcher BA; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA., Scheffer IE; University of Melbourne, Austin Health, Melbourne, Australia.; University of Melbourne, Royal Children's Hospital, Florey and Murdoch Institutes, Melbourne, Australia., Schenone AB; Laboratorio de Neuroquimica 'Dr. N. A. Chamoles'-FESEN, Buenos Aires, Argentina., Schnur RE; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Si Y; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Rowe LJ; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, USA., Serrano Russi AH; Division of Medical Genetics Children's Hospital Los Angeles, University of Southern California, Los Angeles, California, USA.; Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Russo RS; Department of Human Genetics, Emory University, Atlanta, Georgia, USA., Thabet F; MercyOne Pediatric Neurology, Des Moines, Iowa, USA., Tuite A; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA., Villanueva MM; Laboratorio de Neuroquimica 'Dr. N. A. Chamoles'-FESEN, Buenos Aires, Argentina., Wang RY; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, California, USA.; Department of Pediatrics, University of California-Irvine, Orange, California, USA., Webster RI; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital, Westmead, Australia.; Kids Neuroscience Centre, The Children's Hospital, Westmead, Australia., Wilson D; Netcare Sunninghill Hospital, Sandton, South Africa.; Nelson Mandela Children's Hospital, Johannesburg, South Africa., Zalan A; Department of Pediatrics, University of Illinois at Chicago, Chicago, Illinois, USA., Wolfe LA; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Rhodes L; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Nov; Vol. 43 (6), pp. 1333-1348. Date of Electronic Publication: 2020 Aug 05.