المؤلفون: Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J

مؤلفون مشاركون: Care4Rare Canada Consortium, Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1240. Date of Electronic Publication: 2024 May 14.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA. Electronic address: smullegama@genedx.com., Kiernan KA; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Pavlovsky E; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Tilton N; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Sekula A; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Gao H; GeneDx, Gaithersburg, MD 20877, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Engleman K; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Rush ET; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA., Blocker K; Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA., Dipple KM; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Fettig VM; Center for Inherited Cardiovascular Disease, Cardiovascular Genetics Program, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Hare H; Northeastern Ontario Medical Genetics Program, Health Sciences, North Sudbury, ON, Canada., Glass I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Griffin M; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Phornphutkul C; Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA., Massingham L; Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA., Mehta L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Miller DE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Thies J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Merritt JL 2nd; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Muller E 2nd; Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Sawyer SL; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada., Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Hickey RE; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Wolf B; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Choudhary S; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Simonović M; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Zhang Y; Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA., Palculict TB; GeneDx, Gaithersburg, MD 20877, USA., Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Morrow MM; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Yang J; Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA. Electronic address: junyang@utmb.edu., Juusola J; GeneDx, Gaithersburg, MD 20877, USA.

مؤلفون مشاركون: Care4Rare Canada Consortium, Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 778-790. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Musculoskeletal Abnormalities*/genetics , Neurodevelopmental Disorders*/genetics, Animals ; Child ; Humans ; Developmental Disabilities/genetics ; Exons ; Mammals/genetics ; Muscle Hypotonia/genetics ; Neuroblastoma/genetics ; Reactive Oxygen Species

المؤلفون: Olson V; Section of Neurology, Veterans Affairs Puget Sound Health Care System, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Chang IJ; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Merritt JL 2nd; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Mingbunjerdsuk D; Division of Pediatric Neurology, Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.

المصدر: Journal of movement disorders [J Mov Disord] 2022 Sep; Vol. 15 (3), pp. 281-283. Date of Electronic Publication: 2022 May 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Korean Movement Disorders Society Country of Publication: Korea (South) NLM ID: 101527867 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2005-940X (Print) Linking ISSN: 2005940X NLM ISO Abbreviation: J Mov Disord Subsets: PubMed not MEDLINE

المؤلفون: Weerts MJA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Guzmán-Vega FJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Jackson A; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Ramakrishnan R; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Peña-Guerra KA; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Paassen BW; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kievit A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Allen NM; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland., Kehoe CM; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland., Robinson HK; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Pang L; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Banu SH; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Järvelä I; Department of Medical Genetics, University of Helsinki, Helsinki, Finland., Lauronen L; Department of Clinical Neurophysiology, New Children´s Hospital, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland., Määttä T; Disability Services, Joint Authority for Kainuu, Kajaani, Finland., Schrauwen I; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA., Leal SM; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, London, Bucks, UK., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Sun A; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Thies J; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Pedroza LA; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA., Lara-Taranchenko Y; Universidad San Francisco de Quito, Colegio de ciencias de la salud-Hospital de los Valles, Quito, Ecuador., Chinn IK; Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA., Garza-Flores A; Cook Children's Genetics, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA., McGlothlin J; Cook Children's Neurosciences, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA., Yang L; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China., Huang S; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China., Wang X; Cipher Gene Ltd, Beijing, China., Jewett T; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Rosso G; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Lin X; Pediatrics Department, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China., Mohammed S; Clinical Genetics, Guy's and St Thomas NHS Foundation Trust, London, UK., Merritt JL 2nd; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Mirzaa GM; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Scheck J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Elting MW; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Polstra AM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Schenck L; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA., Ruzhnikov MRZ; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA.; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA, USA., Vetro A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Montomoli M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Koboldt DC; Nationwide Children's Hospital, Columbus, OH, USA., Mosher TM; Nationwide Children's Hospital, Columbus, OH, USA., Pastore MT; Nationwide Children's Hospital, Columbus, OH, USA., McBride KL; Nationwide Children's Hospital, Columbus, OH, USA., Peng J; Xiangya Hospital of Central South University, Changsha, China., Pan Z; Xiangya Hospital of Central South University, Changsha, China., Willemsen M; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Koning S; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Turnpenny PD; Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK., de Vries BBA; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Lees M; NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Braddock SR; Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO, USA., Klemp KC; Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO, USA., Vansenne F; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands., van Gijn ME; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands., Quindipan C; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA., Deardorff MA; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Departments of Pathology and Pediatrics, Keck School of Medicine of the, University of Southern California, Los Angeles, CA, USA., Hamm JA; East Tennessee Children's Hospital Genetics Center, Knoxville, TN, USA., Putnam AM; East Tennessee Children's Hospital Genetics Center, Knoxville, TN, USA., Baud R; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Walsh L; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Department of Neurology, Indiana University School of Medicine and Riley Hospital for Children, Indianapolis, IN, USA., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Temple St. Children's Hospital and Our Lady's Children's Hospital, Crumlin, Dublin, Ireland., Baptista J; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Person RE; GeneDx, Gaithersburg, MD, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Crunk A; GeneDx, Gaithersburg, MD, USA., Keller-Ramey J; GeneDx, Gaithersburg, MD, USA., Reich A; GeneDx, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., Alders M; Amsterdam UMC, Department of Clinical Genetics, Amsterdam Reproduction & Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands., Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada., McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada., Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Banka S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2122-2137. Date of Electronic Publication: 2021 Aug 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/diagnosis , Epilepsy*/genetics , Histone-Lysine N-Methyltransferase*/genetics , Intellectual Disability*/diagnosis , Intellectual Disability*/genetics , Neurodevelopmental Disorders*/diagnosis , Neurodevelopmental Disorders*/genetics, Humans ; Male ; Phenotype ; Seizures/diagnosis ; Seizures/genetics

المؤلفون: Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Vona B; Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University of Tübingen, Tübingen, Germany.; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany., Barbalho PG; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Kaiyrzhanov R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Stanley V; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA., Varshney P; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Bahena P; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany., Alzahrani F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Aubertin G; Division of Medical Genetics, Department of Pathology and Lab Medicine, Island Health, Victoria General Hospital, Victoria, BC, Canada., Estrada-Veras JI; Henry M Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA.; Pediatric Subspecialty Genetics Walter Reed National Military Medical Center, Bethesda, MD, USA.; Murtha Cancer Center / Research Program, Department of Surgery, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Hernández HAD; Department of Gastrointestinal Endoscopy, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Mexico City, Mexico., Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnostics Laboratory, East Mihan Ave., Kianpars, Iran., Oza A; Otolaryngology and Communication Enhancement, Boston Children's Hospital, and Dept. of Otolaryngology, Harvard medical School, Boston, USA., Thies J; Department of Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA., Renaud DL; Departments of Neurology and Pediatrics, Mayo Clinic College of Medicine and Science, Rochester, MN, USA., Dugad S; Bioinformatics Centre, S. P. Pune University, Pune, India., McEvoy J; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA., Sultan T; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan., Pais LS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Tabarki B; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Villalobos-Ramirez D; Department of Bioinformatics, Biocenter, University of Würzburg, Würzburg, Germany., Rad A; Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University of Tübingen, Tübingen, Germany., Galehdari H; Department of Gastrointestinal Endoscopy, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Mexico City, Mexico., Ashrafzadeh F; Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran., Sahebzamani A; Pediatric and Genetic Counselling Center, Kerman Welfare Organization, Kerman, Iran., Saeidi K; Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran., Torti E; GeneDx, 207 Perry Parkway Gaithersburg, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, 207 Perry Parkway Gaithersburg, Gaithersburg, MD, USA., Mora S; GeneDx, 207 Perry Parkway Gaithersburg, Gaithersburg, MD, USA., Palculict TB; GeneDx, 207 Perry Parkway Gaithersburg, Gaithersburg, MD, USA., Yang H; GeneDx, 207 Perry Parkway Gaithersburg, Gaithersburg, MD, USA., Wren JD; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Ben Fowler; Imaging core facility, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Joshi M; Bioinformatics Centre, S. P. Pune University, Pune, India., Behra M; Department of Neurobiology, University of Puerto Rico, San Juan, PR, USA., Burgess SM; Translational & Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Nath SK; Arthritis & Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Hanna MG; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Kenna M; Otolaryngology and Communication Enhancement, Boston Children's Hospital, and Dept. of Otolaryngology, Harvard medical School, Boston, USA., Merritt JL 2nd; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle, WA, USA., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, London, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azdad University, Mashhad, Iran., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Gleeson JG; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA. gaurav-varshney@omrf.org.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Oct; Vol. 23 (10), pp. 1933-1943. Date of Electronic Publication: 2021 Jun 25.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Hearing Loss*/genetics , Neurodevelopmental Disorders*/genetics, Lysine-tRNA Ligase/*genetics, Alleles ; Animals ; Disease Models, Animal ; Humans ; Phenotype ; Zebrafish/genetics

المؤلفون: Diaz GA; Icahn School of Medicine at Mount Sinai, New York City, New York, USA., Schulze A; University of Toronto and The Hospital for Sick Children, Toronto, Ontario, Canada., McNutt MC; UT Southwestern Medical Center, Dallas, Texas, USA., Leão-Teles E; Centro Hospitalar de São João, Porto, Portugal., Merritt JL 2nd; University of Washington, Seattle, Washington, USA., Enns GM; Stanford University, Stanford, California, USA., Batzios S; Great Ormond Street Hospital NHS Trust, London, UK., Bannick A; Children's Hospital of Michigan, Wayne State University, Detroit, Michigan, USA., Zori RT; University of Florida, Gainesville, Florida, USA., Sloan LS; Aeglea BioTherapeutics, Inc., Austin, Texas, USA., Potts SL; Aeglea BioTherapeutics, Inc., Austin, Texas, USA., Bubb G; Aeglea BioTherapeutics, Inc., Austin, Texas, USA., Quinn AG; Aeglea BioTherapeutics, Inc., Austin, Texas, USA.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 847-856. Date of Electronic Publication: 2021 Jan 26.

نوع المنشور: Clinical Trial, Phase I; Clinical Trial, Phase II; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Arginase/*genetics , Arginase/*therapeutic use , Arginine/*blood , Hyperargininemia/*drug therapy, Adolescent ; Adult ; Arginase/adverse effects ; Arginase/blood ; Arginine/metabolism ; Child ; Child, Preschool ; Disease Management ; Female ; Humans ; Hyperammonemia/etiology ; Hyperargininemia/blood ; Hyperargininemia/genetics ; Hyperargininemia/metabolism ; Male ; Recombinant Proteins/adverse effects ; Recombinant Proteins/therapeutic use ; United States ; Vomiting/etiology ; Young Adult

المؤلفون: Norris MK; Department of Nutrition and Integrative Physiology, University of Utah, Salt Lake City, Utah, USA.; Department of Nutrition, Biochemical Genetics, Seattle Children's Hospital, Seattle, Washington, USA., Scott AI; Department of Laboratories, Biochemical Genetics, Seattle Children's Hospital, Seattle, Washington, USA., Sullivan S; Department of Nutrition, Biochemical Genetics, Seattle Children's Hospital, Seattle, Washington, USA., Chang IJ; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA., Lam C; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA., Sun A; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA., Hahn S; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA., Thies JM; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA., Gunnarson M; Department of Nutrition, Biochemical Genetics, Seattle Children's Hospital, Seattle, Washington, USA., McKean KN; Department of Nutrition, Biochemical Genetics, Seattle Children's Hospital, Seattle, Washington, USA., Merritt JL 2nd; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA.

المصدر: JPEN. Journal of parenteral and enteral nutrition [JPEN J Parenter Enteral Nutr] 2021 Feb; Vol. 45 (2), pp. 230-238. Date of Electronic Publication: 2020 Nov 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7804134 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1941-2444 (Electronic) Linking ISSN: 01486071 NLM ISO Abbreviation: JPEN J Parenter Enteral Nutr Subsets: MEDLINE

مواضيع طبية MeSH: Lipid Metabolism, Inborn Errors*/drug therapy, Carnitine ; Fatty Acids ; Humans ; Oxidation-Reduction ; Triglycerides

المؤلفون: Merritt JL 2nd; Pediatrics, University of Washington, Seattle, WA, USA. lawrence.merritt@seattlechildrens.org., MacLeod E; Children's National Hospital, Washington, DC, USA., Jurecka A; Ultragenyx Pharmaceutical Inc., Novato, CA, USA., Hainline B; Indiana University School of Medicine, Indianapolis, IN, USA.

المصدر: Reviews in endocrine & metabolic disorders [Rev Endocr Metab Disord] 2020 Dec; Vol. 21 (4), pp. 479-493.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 100940588 Publication Model: Print Cited Medium: Internet ISSN: 1573-2606 (Electronic) Linking ISSN: 13899155 NLM ISO Abbreviation: Rev Endocr Metab Disord Subsets: MEDLINE

مواضيع طبية MeSH: Heart Diseases*/etiology , Heart Diseases*/physiopathology , Heart Diseases*/therapy , Lipid Metabolism, Inborn Errors*/complications , Lipid Metabolism, Inborn Errors*/diagnosis , Lipid Metabolism, Inborn Errors*/physiopathology , Lipid Metabolism, Inborn Errors*/therapy , Liver Diseases*/etiology , Liver Diseases*/physiopathology , Liver Diseases*/therapy , Muscular Diseases*/etiology , Muscular Diseases*/physiopathology , Muscular Diseases*/therapy , Nervous System Diseases*/etiology , Nervous System Diseases*/physiopathology , Nervous System Diseases*/therapy , Retinal Diseases*/etiology , Retinal Diseases*/physiopathology , Retinal Diseases*/therapy, Fatty Acids/*metabolism, Humans

المؤلفون: Vasquez-Loarte T; Public Health Genetics, University of Washington, Seattle, WA 98195, USA., Thompson JD; Newborn Screening Laboratory, Public Health Laboratories, Washington State Department of Health, Shoreline, WA 98155, USA., Merritt JL 2nd; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.

المصدر: International journal of neonatal screening [Int J Neonatal Screen] 2020 Oct 08; Vol. 6 (4). Date of Electronic Publication: 2020 Oct 08.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

المؤلفون: Merritt JL 2nd; Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington; lawrence.merritt@seattlechildrens.org., Quinonez RA; Section of Pediatric Hospital Medicine, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Bonkowsky JL; Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, Utah.; Brain and Spine Center, Primary Children's Hospital, Salt Lake City, Utah., Franklin WH; Department of Pediatrics, Stritch School of Medicine, Loyola University, Maywood, Illinois., Gremse DA; Department of Pediatrics, University of South Alabama, Mobile, Alabama., Herman BE; Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, Utah., Jenny C; Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington., Katz ES; Department of Medicine, Harvard Medical School, Harvard University, Boston, Massachusetts., Krilov LR; Department of Pediatrics, New York University Winthrop, Mineola, New York; and., Norlin C; Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, Utah., Sapién RE; Department of Emergency Medicine, Health Sciences Center, University of New Mexico, Albuquerque, New Mexico., Tieder JS; Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington.

المصدر: Pediatrics [Pediatrics] 2019 Aug; Vol. 144 (2).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE

مواضيع طبية MeSH: Medically Unexplained Symptoms*, Delayed Diagnosis/*trends , Hospitalization/*trends, Delayed Diagnosis/prevention & control ; Humans ; Infant, Newborn ; Risk Factors