المؤلفون: Alsharhan, H, He, M, Edmondson, AC, Daniel, EJP, Chen, J, Donald, T, Bakhtiari, S, Amor, DJ, Jones, EA, Vassallo, G, Vincent, M, Cogne, B, Deb, W, Werners, AH, Jin, SC, Bilguvar, K, Christodoulou, J, Webster, RI, Yearwood, KR, Ng, BG, Freeze, HH, Kruer, MC, Li, D, Raymond, KM, Bhoj, EJ, Sobering, AK

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/298390

المؤلفون: Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM Jr, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D, Chun-Hui Tsai A, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H, Bhoj EJ

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: HGG advances [HGG Adv] 2022 Dec 20; Vol. 4 (1), pp. 100168. Date of Electronic Publication: 2022 Dec 20 (Print Publication: 2023).

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: PubMed not MEDLINE

المؤلفون: Verdi G; Department of Biochemistry, St. George's University School of Medicine, True Blue, Grenada., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, True Blue, Grenada., Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Yearwood KR; St. George's University Clinic, St. George's, Grenada., Upadhya S; Department of Biochemistry, St. George's University School of Medicine, True Blue, Grenada., Gluschitz S; Department of Anatomical Sciences, St. George's University, True Blue, Grenada., Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Sobering AK; Department of Biochemistry, St. George's University School of Medicine, True Blue, Grenada.; AU/UGA Medical Partnership, Athens, Georgia, USA.; Windward Islands Research and Education Foundation, St. George's, Grenada.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Apr; Vol. 10 (4), pp. e1900. Date of Electronic Publication: 2022 Feb 21.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 18* , Intellectual Disability*/genetics, Chromatin ; Humans ; In Situ Hybridization, Fluorescence ; Translocation, Genetic

المؤلفون: Sobering AK; AU/UGA Medical Partnership, Department of Basic Sciences, University of Georgia Health Sciences Campus, Athens, GA 30602, USA.; St. George's University, Department of Biochemistry, St. George's, Grenada, West Indies.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada, West Indies., Bryant LM; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McGaughran J; Genetic Health Queensland, RBWH, Brisbane and The University of Queensland School of Medicine, Brisbane, QLD 4029, Australia., Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium., Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium., Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA., van Haeringen A; Leiden University Medical Center, 9600, 2300 RC Leiden, the Netherlands., Ruivenkamp C; Leiden University Medical Center, 9600, 2300 RC Leiden, the Netherlands., Cuperus R; Juliana Children's Hospital, HAGA Medical Center, The Hague, the Netherlands., Vogt J; Birmingham Women's and Children's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham B15 2TG, UK., Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense 5000, Denmark., Steenhof M; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark., Hansen LK; Department of Paediatrics, Odense University Hospital, Odense 5000, Denmark., Adler É; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France., Lyonnet S; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France., Pingault V; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France., Sandrine M; Reference Center for Genetic Deafness, Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France., Ziegler A; Reference Center for Genetic Deafness, Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France., Donald T; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada, West Indies., Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada, West Indies., Holt B; Department of Anatomical Sciences, St. George's University, Grenada, West Indies., Petryna O; Hackensack University Ocean Medical Center, Department of Psychiatry, Hackensack, NJ 08724, USA., Firth H; Department of Clinical Genetics, Cambridge University Hospitals, Box 134, Cambridge CB2 0QQ, UK., McWalter K; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Zyskind J; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Telegrafi A; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Juusola J; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Person R; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Bamshad MJ; Seattle Children's Hospital, Seattle, WA 98105, USA.; Departments of Pediatrics and Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA., Earl D; Seattle Children's Hospital, Seattle, WA 98105, USA., Tsai AC; University of Oklahoma, Section of Genetics, 800 Stanton L Young Boulevard, Oklahoma City, OK 73117, USA., Yearwood KR; University Health Services, St. George's University, Grenada, West Indies., Marco E; Cortica Healthcare, Marin Center, 4000 Civic Center Dr, Ste 100, San Rafael, CA 94903, USA., Nowak C; Boston Children's Hospital, Division of Genetics and Genomics, 60 Temple Place, 2nd Floor, Boston, MA 02111, USA., Douglas J; Boston Children's Hospital, Division of Genetics and Genomics, 60 Temple Place, 2nd Floor, Boston, MA 02111, USA., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: HGG advances [HGG Adv] 2022 Mar 26; Vol. 3 (3), pp. 100102. Date of Electronic Publication: 2022 Mar 26 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: PubMed not MEDLINE

المؤلفون: Alsharhan H; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Daniel EJP; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Chen J; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Donald T; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.; Clinical Teaching Unit, St. George's University, St. George's, Grenada., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA., Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne, Melbourne, Australia., Jones EA; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Vassallo G; Department of Pediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation Trust, Manchester, UK., Vincent M; Service de génétique médicale, CHU de Nantes, Nantes, France., Cogné B; Service de génétique médicale, CHU de Nantes, Nantes, France., Deb W; Service de génétique médicale, CHU de Nantes, Nantes, France., Werners AH; Department of Anatomy, Physiology and Pharmacology, St. George University School of Veterinary Medicine, St. George's, Grenada., Jin SC; Department of Genetics and Pediatrics, Washington University, St. Louis, Missouri, USA., Bilguvar K; Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne, Melbourne, Australia.; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia., Webster RI; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Yearwood KR; St. George's University, University Health Services, St. George's, Grenada., Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA., Li D; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Raymond KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sobering AK; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 1001-1012. Date of Electronic Publication: 2021 Mar 26.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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: Congenital Disorders of Glycosylation/*genetics , Intellectual Disability/*physiopathology , N-Acetylglucosaminyltransferases/*genetics, Congenital Disorders of Glycosylation/physiopathology ; Female ; Genetic Variation ; Glycosylation ; Humans ; Intellectual Disability/genetics ; Male ; Phenotype ; Transferrin/metabolism

المؤلفون: Sobering AK; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Beighley JS; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA., Carey JC; Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA., Donald T; Grenada General Hospital, Pediatrics Ward, St. George's, Grenada.; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Figueroa KP; Department of Neurology, University of Utah, Salt Lake City, Utah, USA., Gerdts J; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA., Hamlet A; Grenada General Hospital, Pediatrics Ward, St. George's, Grenada.; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada., Pulst SM; Department of Neurology, University of Utah, Salt Lake City, Utah, USA., Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Tassone F; Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, California, USA.; MIND Institute, University of California Davis Medical Center, Sacramento, California, USA., Toriello HV; Department of Pediatrics/Human Development College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA., Walker RH; Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, New York, USA.; Department of Neurology, Mount Sinai School of Medicine, New York City, New York, USA., Yearwood KR; St. George's University, University Health Services, St. George's, Grenada., Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Dec; Vol. 184 (4), pp. 1030-1041. Date of Electronic Publication: 2020 Dec 04.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder* , Physicians*, Child ; Delivery of Health Care ; Humans ; Referral and Consultation ; West Indies