المؤلفون: Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM

المصدر: American Journal of Human Genetics, 102(6), 1195-1203
American journal of human genetics, vol 102, iss 6

مصطلحات موضوعية: Adult, Male, Adolescent, kinase, Messenger, Inheritance Patterns, Translocation, Medical and Health Sciences, Cell Line, Young Adult, Genetic, Clinical Research, Loss of Function Mutation, Genetics, 2.1 Biological and endogenous factors, Humans, Aetiology, Child, Preschool, Genetic Association Studies, Genetics & Heredity, Tousled-like, Base Sequence, Human Genome, Neurosciences, Facies, Infant, Deciphering Developmental Disorders Study, Biological Sciences, Brain Disorders, haploinsufficiency, Neurodevelopmental Disorders, intellectual disability, RNA, Female, Protein Kinases, facial averaging, Biotechnology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::623bf0658c2dd1fcad885b720f5373c3
http://hdl.handle.net/1887/79379

المؤلفون: Borroto MC; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada., Patel H; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada., Srivastava S; Department of Neurology, Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Swanson LC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Keren B; Département de génétique, APHP-Sorbonne Université, Hôpital de la Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France., Whalen S; UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, APHP, Sorbonne Université, Hôpital Trousseau, Paris, France., Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, APHP, Sorbonne Université, Paris, France., Wang X; Cipher Gene Ltd., Beijing, China., Chen Q; Children's Hospital, Capital Institute of Pediatrics, Beijing, China., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas., Emrick L; Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Attali R; Genomic Research Department, Emedgene, an Illumina Company, Tel Aviv, Israel., Lesca G; Department of Medical Genetics, Lyon University Hospital, University Claude Bernard Lyon 1, Lyon, France., Acquaviva-Bourdain C; Hospices civils de Lyon, service biochimie et biologie moléculaire, UF maladies héréditaires du métabolisme, Bron, France., Sarret C; CHU Estaing, Pôle Pédiatrie, Service de Génétique, Clermont-Ferrand, France., Seaver LH; Corewell Health Helen DeVos Children's Hospital, Grand Rapids, Michigan; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Wünsch C; Sozialpädiatrisches Zentrum Leipzig - Frühe Hilfe Leipzig e.V., Leipzig, Germany., Fischer S; Sozialpädiatrisches Zentrum Leipzig - Frühe Hilfe Leipzig e.V., Leipzig, Germany., Rodriguez Barreto AM; Division of Clinical Genetics, Nicklaus Children's Hospital, Miami, Florida., Granadillo JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri., Schreiner E; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, LMU - University of Munich, Munich, Germany., Schatz UA; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Thiffault I; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri., Mullegama SV; GeneDx, Gaithersburg, Maryland., Michaud JL; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, Québec, Canada., Hamdan FF; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada., Rossignol E; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada., Campeau PM; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada. Electronic address: p.campeau@umontreal.ca.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Jul 20; Vol. 160, pp. 45-53. Date of Electronic Publication: 2024 Jul 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

المؤلفون: Ford CP; School of Medicine, Meharry Medical College, Nashville, Tennessee, USA.; Clinical Research Education Training Program at Baylor College of Medicine, Houston, Texas, USA., Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., German R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA., Vuocolo B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA., Aceves J; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA., Vossaert L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Baylor College of Medicine, Houston, Texas, USA., Owen N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Baylor College of Medicine, Houston, Texas, USA., Wangler M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA., Schmid CA; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

مؤلفون مشاركون: Texome Project

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2272. Date of Electronic Publication: 2023 Aug 23.

نوع المنشور: Case Reports; Journal Article

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: Hemiplegia*/complications , Hemiplegia*/genetics , Genomic Medicine*, Male ; Humans ; Child ; Mutation ; Vulnerable Populations ; Mouth Mucosa ; Sodium-Potassium-Exchanging ATPase/genetics

المؤلفون: Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Murry JB; Baylor Genetics, Houston, Texas, USA.; Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland, USA., Qin X; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Quach T; Baylor Genetics, Houston, Texas, USA., Cooper LM; Baylor Genetics, Houston, Texas, USA., Wiszniewska J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pathology and Laboratory Medicine, Oregon Health and Science University, Portland, Oregon, USA., Hixson P; Baylor Genetics, Houston, Texas, USA., Peacock S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Tonk VS; Departments of Pediatrics, Obstetrics and Gynecology, Pathology, Texas Tech University Health Science Centers, Lubbock, Texas, USA., Huff RW; Department of Obstetrics and Gynecology, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA., Ortega V; Department of Pathology and Laboratory Medicine, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Scherer SE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Littlejohn RO; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA., Velagaleti GVN; Department of Pathology and Laboratory Medicine, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA., Roeder ER; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA scheung@bcm.edu Elizabeth.roeder@bcm.edu., Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA scheung@bcm.edu Elizabeth.roeder@bcm.edu.

المصدر: Journal of medical genetics [J Med Genet] 2023 Jun; Vol. 60 (6), pp. 547-556. Date of Electronic Publication: 2022 Sep 23.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mosaicism* , Ring Chromosomes*, Humans ; Chromosomes, Human, Pair 8/genetics ; Karyotyping ; In Situ Hybridization, Fluorescence ; Chromosome Aberrations ; Translocation, Genetic/genetics ; Germ Cells

المؤلفون: Serey-Gaut M; Centre de génétique humaine, Université de Franche-Comté, Besançon, France. Electronic address: sereymargaux@gmail.com., Cortes M; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Makrythanasis P; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece; Biomedical Research Foundation of the Academy of Athens, Athens, Greece., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Taylor AMR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Sullivan JA; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Asleh AN; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Mitra J; Department of Biophysics and Biophysical Chemistry, Biophysics and Biomedical Engineering, JHU Howard Hughes Medical Institute, Baltimore, MD 21205, USA., Dar MA; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., McNamara A; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Shashi V; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Dugan S; Providence Medical Group Genetic Clinics, Spokane, WA, USA., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Cabrol C; Centre de génétique humaine, Université de Franche-Comté, Besançon, France., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland; Computer-Aided Molecular Engineering, Department of Oncology, Ludwig Institute for Cancer Research Lausanne Branch, University of Lausanne, Lausanne, Switzerland., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France., Akdemir ZC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; University Texas Health Science Center, Houston, TX 77030, USA., Roeder ER; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Dibra HK; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Byrd PJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Geckinli BB; Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey., Posey J; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Westman R; Providence Medical Group Genetic Clinics, Spokane, WA, USA., Jungbluth C; Providence Medical Group Genetic Clinics, Spokane, WA, USA., Eason J; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia., Evans CA; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia., Lemire G; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., VanNoy GE; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., O'Donnell-Luria A; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Mau-Them FT; UF6254 Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Juven A; UF6254 Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Piard J; Centre de génétique humaine, Université de Franche-Comté, Besançon, France., Nixon CY; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia., Zhu Y; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Ha T; Department of Biophysics and Biophysical Chemistry, Biophysics and Biomedical Engineering, JHU Howard Hughes Medical Institute, Baltimore, MD 21205, USA., Buckley MF; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Thauvin C; INSERM UMR1231 GAD, Bourgogne Franche-Comté University, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France., Essien Umanah GK; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Besançon, France; Clinical Investigation Center 1431, National Institute of Health and Medical Research (INSERM), CHU, Besancon, France; EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Dawson VL; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Dawson TM; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Antonarakis SE; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland. Electronic address: stylianos.antonarakis@unige.ch.

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Mar 02; Vol. 110 (3), pp. 499-515. Date of Electronic Publication: 2023 Jan 31.

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

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: Microcephaly* , Neurodevelopmental Disorders* , Movement Disorders*, Humans ; Intracellular Signaling Peptides and Proteins ; HEK293 Cells ; TOR Serine-Threonine Kinases

المؤلفون: Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. Electronic address: streff@bcm.edu., Uhles CL; Department of Genetics and Metabolism, Children's Medical Center, Dallas, TX., Fisher H; Department of Genetics and Metabolism, Children's Medical Center, Dallas, TX., Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Hudnall J; Department of Genetics and Metabolism, Children's Medical Center, Dallas, TX., Smith HS; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Mar; Vol. 25 (3), pp. 100350. Date of Electronic Publication: 2022 Dec 06.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

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: Outpatients* , Medicaid*, Humans ; Child ; United States ; Texas ; Retrospective Studies ; Genetic Testing

المؤلفون: Cali E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ferla MP; Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom., Alavi S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran; Palindrome, Isfahan, Iran., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Wigby KM; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, CA., Baralle D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom; Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, United Kingdom., Mehrjardi MYV; Medical Genetics Research Center, Shahid Sadoughi University of Medical Science, Yazd, Iran., Schwab J; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Hashem M; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Jones M; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, CA., Niyazov DM; Section of Medical Genetics, Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA., Jacober J; Section of Medical Genetics, Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA., Littlejohn RO; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX., Weis D; Department of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria., Zadeh N; Children's Hospital of Orange County, Orange, CA; Genetics Center, Orange, California., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandie University, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, Rouen, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandie University, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, Rouen, France., Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA., Horvath G; BC Children's Hospital Research Institute, BC Children's Hospital, Vancouver, British Columbia, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada., Young D; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, Canada., Orenstein N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Bawazeer S; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia., Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Herenger Y; Genetica AG, Zürich, Switzerland., Dehghani M; Medical Genetics Research Center, Shahid Sadoughi University of Medical Science, Yazd, Iran., Seyedhassani SM; Dr. Seyedhassani Medical Genetic Center, Yazd, Iran., Bahreini A; Palindrome, Isfahan, Iran; KaryoGen, Isfahan, Iran; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA., Nasab ME; Dr. Seyedhassani Medical Genetic Center, Yazd, Iran., Ercan-Sencicek AG; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, Yale University, New Haven, CT; Masonic Medical Research Institute, Utica, NY., Firoozfar Z; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran; Palindrome, Isfahan, Iran., Movahedinia M; Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Taylor JC; Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom., Redman M; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom., Stegmann APA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Laner A; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany., Abdel-Salam G; Human Genetics and Genome Research Division, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Li M; Invitae, San Francisco, CA., Bengala M; Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy., Müller AJ; Autophagy Laboratory, Department of Molecular Biology, Interfaculty Institute of Cell Biology, Eberhard Karls University Tuebingen, Tuebingen, Germany., Digilio MC; Medical Genetics Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Gunel M; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, Yale University, New Haven, CT., Titheradge H; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom; Women's and Children's NHS Trust, Birmingham, United Kingdom., Schweitzer DN; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA., Kraus A; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom; Castle Hill Hospital, Cottingham, Hull, United Kingdom., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., McLean SD; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX., Phornphutkul C; Section of Medical Genetics, Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA., Salih M; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Pediatrics, College of Medicine, AlMughtaribeen University, Khartoum, Sudan., Begtrup A; GeneDx, Gaithersburg, MD., Schnur RE; GeneDx, Gaithersburg, MD., Torti E; GeneDx, Gaithersburg, MD., Haack TB; Institute of Human Genetics and Applied Genomics University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Prada CE; Department of Pediatrics, Cincinnati Children's Hospital, Cincinnati, OH; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL., Alkuraya FS; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 135-142. Date of Electronic Publication: 2022 Nov 18.

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: Brachydactyly* , Neurodevelopmental Disorders*/genetics , Intellectual Disability*/genetics , Dwarfism*/genetics , Musculoskeletal Abnormalities*, Humans ; Obesity/genetics ; Phenotype ; Protein-Arginine N-Methyltransferases/genetics

المؤلفون: Alves CAPF; From the Division of Neuroradiology (C.A.P.F.A.) alvesc@chop.edu., Sherbini O; Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., D'Arco F; Departments of Radiology (F.D.)., Steel D; Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.; Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK., Kurian MA; Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.; Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK., Radio FC; Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Ferrero GB; Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy., Carli D; Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy., Tartaglia M; Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Balci TB; MedicalGenetics Programof Southwestern Ontario (T.B.B.), London Health Sciences Centre, London, Ontario, Canada.; Department of Paediatrics (T.B.B.),Western University, London, Ontario, Canada., Powell-Hamilton NN; Division of Medical Genetics (N.N.P.-H.), Nemours Childrenșs Hospital, Wilmington, Delaware., Schrier Vergano SA; Division of Medical Genetics and Metabolism (S.A.S.V.), Childrenșs Hospital of The Kingșs Daughters, Norfolk, Virginia.; Department of Pediatrics (S.A.S.V.), Eastern Virginia Medical School, Norfolk, Virginia., Reutter H; Division of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany., Hoefele J; Institute of Human Genetics (J.H., R.G.)., Günthner R; Institute of Human Genetics (J.H., R.G.).; Department of Nephrology (R.G.), Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany., Roeder ER; Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas., Littlejohn RO; Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas., Lessel D; Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lüttgen S; Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kentros C; Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York., Anyane-Yeboa K; Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York., Catarino CB; Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany., Mercimek-Andrews S; Department of Medical Genetics (S.M.-A.), Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Department of Medical Genetics (S.M.-A.), The Hospital for Sick Children, Toronto, Ontario, Canada., Denecke J; Department of Pediatrics (J.D.), University Medical Center Eppendorf, Hamburg, Germany., Lyons MJ; Greenwood Genetic Center (M.J.L.), Greenwood, South Carolina., Klopstock T; Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (T.K.), Munich, Germany.; Munich Cluster for Systems Neurology (T.K.), Munich, Germany., Bhoj EJ; Department of Radiology, Division of Human Genetics (E.J.B., L.B.)., Bryant L; Department of Radiology, Division of Human Genetics (E.J.B., L.B.)., Vanderver A; Department of Pediatrics, and Division of Neurology (A.V.), Department of Pediatrics, Childrenșs Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

المصدر: AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2022 Jul; Vol. 43 (7), pp. 1048-1053. Date of Electronic Publication: 2022 Jun 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE

مواضيع طبية MeSH: Brain Neoplasms*/diagnostic imaging , Brain Neoplasms*/genetics , Brain Neoplasms*/pathology , Histones*/genetics , Malformations of Cortical Development*/pathology , Neurodevelopmental Disorders*/pathology, Brain/diagnostic imaging ; Brain/pathology ; Child ; Germ Cells/pathology ; Humans ; Male ; Retrospective Studies

المؤلفون: Spinelli E; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Christensen KR; Department of Psychiatry, Yale School of Medicine, Connecticut Mental Health Center, New Haven, CT., Bryant E; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Schneider A; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Rakotomamonjy J; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Giannelli J; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Roeder ER; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Schmidt B; Division of Medical Genetics, University of Virginia, Charlottesville, VA., Wilson WG; Division of Medical Genetics, University of Virginia, Charlottesville, VA., Marco EJ; Department of Pediatrics, University of California, San Francisco, CA.; Research Division, Cortica Healthcare, San Rafael, CA., Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan., Pisano T; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Barba C; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Vetro A; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Brilstra EH; Genetics Department, University Medical Centre Utrecht, Utrecht, The Netherlands., van Jaarsveld RH; Genetics Department, University Medical Centre Utrecht, Utrecht, The Netherlands., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Goldberg-Stern H; Epilepsy Unit and EEG Lab, Schneider Medical Center, Petah Tikv, Israel., Carney PW; Eastern Health Clinical School, Monash University, Melbourne, Victoria, Australia., Andrews PI; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia., El Achkar CM; Epilepsy Unit and EEG Lab, Schneider Medical Center, Petah Tikv, Israel., Berkovic S; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Rodan LH; Department of Neurology and Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., McWalter K; GeneDx, Gaithersburg, MD., Guerrini R; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Mandelstam S; Department of Pediatrics and Radiology, University of Melbourne, Melbourne, VIC, Australia.; Department of Medical Imaging, Royal Children's Hospital of Melbourne, Melbourne, VIC, Australia., Laux L; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL., Millichap JJ; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL., Guemez-Gamboa A; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL., Nairn AC; Department of Psychiatry, Yale School of Medicine, Connecticut Mental Health Center, New Haven, CT., Carvill GL; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.

مؤلفون مشاركون: Undiagnosed Diseases Network (UDN)

المصدر: Annals of neurology [Ann Neurol] 2021 Aug; Vol. 90 (2), pp. 274-284. Date of Electronic Publication: 2021 Jul 13.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy/*diagnostic imaging , Epilepsy/*genetics , Genetic Variation/*genetics , Microtubule-Associated Proteins/*genetics , Protein Serine-Threonine Kinases/*genetics, Adolescent ; Adult ; Amino Acid Sequence ; Animals ; Child ; Cohort Studies ; Epilepsy/metabolism ; Female ; Follow-Up Studies ; HEK293 Cells ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Microtubule-Associated Proteins/biosynthesis ; Protein Serine-Threonine Kinases/biosynthesis ; Young Adult

المؤلفون: Ortega V; Department of Pathology, University of Texas Health, San Antonio, TX, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA., Jones MA; Greenwood Genetic Center, Greenwood, SC, USA., Chaubey A; Greenwood Genetic Center, Greenwood, SC, USA., DuPont BR; Greenwood Genetic Center, Greenwood, SC, USA., Britt A; Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA., Ray J; Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA., McLean SD; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Velagaleti G; Department of Pathology, University of Texas Health, San Antonio, TX, USA. velagaleti@uthscsa.edu.; Department of Pathology and Laboratory Medicine, University of Texas Health Science Center Mail Code, Mail Code 7750, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA. velagaleti@uthscsa.edu.

المصدر: Molecular cytogenetics [Mol Cytogenet] 2021 Jul 14; Vol. 14 (1), pp. 37. Date of Electronic Publication: 2021 Jul 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE