المؤلفون: Kumble, S, Levy, AM, Punetha, J, Gao, H, Ah Mew, N, Anyane-Yeboa, K, Benke, PJ, Berger, SM, Bjerglund, L, Campos-Xavier, B, Ciliberto, M, Cohen, JS, Comi, AM, Curry, C, Damaj, L, Denomme-Pichon, A-S, Emrick, L, Faivre, L, Fasano, MB, Fievet, A, Finkel, RS, Garcia-Minaur, S, Gerard, A, Gomez-Puertas, P, Guillen Sacoto, MJ, Hoffman, TL, Howard, L, Iglesias, AD, Izumi, K, Larson, A, Leiber, A, Lozano, R, Marcos-Alcalde, I, Mintz, CS, Mullegama, SV, Moller, RS, Odent, S, Oppermann, H, Ostergaard, E, Pacio-Miguez, M, Palomares-Bralo, M, Parikh, S, Paulson, AM, Platzer, K, Posey, JE, Potocki, L, Revah-Politi, A, Rio, M, Ritter, AL, Robinson, S, Rosenfeld, JA, Santos-Simarro, F, Sousa, SB, Weber, M, Xie, Y, Chung, WK, Brown, NJ, Tumer, Z

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/311202

المؤلفون: Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Quirin T; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium., Rocca C; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Suri M; UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Dominguez R; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Palindrome, Isfahan, Iran., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt., Morsy H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt., Mau-Them FT; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon 21070, France; INSERM UMR1231 GAD, Dijon 21000, France., Nizon M; Service de génétique médicale, CHU de Nantes, Nantes, France; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Tesner P; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Ryba L; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Saadi NW; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq., Firoozfar Z; Palindrome, Isfahan, Iran., Gencpinar P; İzmir Katip Çelebi University Tepecik Training and Research Department of Pediatric Neurology, Izmir, Turkey., Unay B; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey., Ustun C; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey., Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France; INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, 21078, France., Coubes C; Département de Génétique Médicale, Maladies rares et Médecine Personnalisée, et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHRU de Montpellier, Montpellier, France., Stefanich J; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA., Sezer O; Department of Medical Genetics, Samsun University, Faculty of Medicine, Samsun, Turkey., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Vasco G; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Lettori D; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Milh M; Aix-Marseille Univ, APHM, department of Pediatrics Neurology. Timone children Hospital. Marseille, France., Villard L; Aix Marseille Univ, Inserm, MMG, Marseille, France; Service de Génétique Médicale, AP-HM, Hôpital de La Timone, Marseille, France., Zeidler S; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, The Netherlands., Opperman H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El Khassab H; Sulaiman Al Habib Hospital - Olaya Medical Complex - Riyadh, Saudi Arabia., Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Ibrahim S; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Nejad-Rashidi A; Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran; Genetics Ward, Yas Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Larki P; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States; Kansas City School of Medicine, University of Missouri, Kansas City, MO, United States; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, United States., Bertsch NL; The Community Health Clinic, Shipshewana, Indiana, USA., Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA; Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA., Moran E; Clinical Genetics, Center for Children, Hassenfeld Children's Hospital, New York University, New York, New York, USA., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Hosseini S; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran., Abbaszadegan MR; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France., Vissers LELM; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Montazer MZ; Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran., El Fahime E; National Centre for Scientific and Technical Research, Rabat, Morocco., Canavati C; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Kamal L; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Kanaan M; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Askander O; Faculty of Medical Sciences, Mohammed 6 Polytechnic University of Benguerir, Ben Guerir, Morocco., Voinova V; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia, 125412; Mental Health Research Center, Moscow, Russia, 117152., Levchenko O; Research Centre for Medical Genetics, Moscow, Russia., Haider S; Paediatrics Wah Medical College NUMS, Wah Cantonment, Punjab 44000, Pakistan., Halbach SS; University of Chicago Medicine, University of Chicago, Chicago, IL, USA., Maia ER; Division of Genetics, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil., Mansoor S; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Research Center of Genome, Isfahan University of Medical Sciences, Isfahan, Iran., Vivek J; Department of Pediatric Neurology, Neo Clinic Children's Hospital, Jaipur 302019, India., Tawde S; Department of Human Genetics, The University of Chicago, Illinois., Santhosh R Challa V; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Victor LA; Department of Pediatric Neurology - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Boa Vista, Recife, Brazil., Pinero-Banos B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Hague J; Clinical Genetics service, Northampton General Hospital, Northampton NN15BD, UK., Ei-Awady HA; Department of Pediatrics, Fayoum University Hospitals, Fayoum, Egypt., Maria de Miranda Henriques-Souza A; Instituto de Medicina Integral Prof. Fernando Figueira, Centro de Terapias Cetogênicas do IMIP, Recife PE, Brazil., Cheema HA; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan., Anjum MN; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan., Idkaidak S; Al-Quds University, Jerusalem, Palestine., Alqarajeh F; PRCS hospital, Hebron, Palestine., Atawneh O; PRCS hospital, Hebron, Palestine., Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Kok F; Mendelics Genomic Analysis, São Paulo, Brazil., Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil., Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil., Josahkian J; Mendelics Genomic Analysis, São Paulo, Brazil., Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Chatron N; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Ville D; Department of Neuropediatric, University Hospital of Lyon, Lyon, France., Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA., Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Tay CG; Clinical Research Centre, Sunway Medical Centre, Malaysia., Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan., Carr L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Kanani F; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Beecroft F; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, UK., Hane L; Division of Medical Genetics, 3Billion Inc, Seoul, South Korea., Abdelkreem E; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt., Macek M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Bispo L; Laboratório Mendelics, Department of Genetic, São Paulo, Brazil., Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Egypt., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Amor DJ; Murdoch Children's Research Institute and University of Melbourne of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Australia., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusset's, USA., Ghayoor EK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Campeau P; CHU Sainte-Justine Research Center, Montreal, QC, Canada; Department of Pediatrics, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Gleeson J; Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego 92123, 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, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada., Lafontaine DLJ; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. Electronic address: r.maroofian@ucl.ac.uk.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 10, pp. 101251. Date of Electronic Publication: 2024 Sep 10.

نوع المنشور: Journal Article

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

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 Nov; 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

مواضيع طبية MeSH: rab GTP-Binding Proteins*/genetics , Neurodevelopmental Disorders*/genetics , Genetic Association Studies*, Humans ; Male ; Child ; Female ; Child, Preschool ; Adolescent ; Cohort Studies ; Mutation, Missense ; Phenotype ; Intellectual Disability/genetics ; Intellectual Disability/diagnostic imaging ; Epilepsy/genetics ; Epilepsy/physiopathology ; Epilepsy/diagnostic imaging ; Infant ; Developmental Disabilities/genetics ; Developmental Disabilities/diagnostic imaging ; Developmental Disabilities/etiology

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: Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bie I, Wegler M, Jamra RA, Kamphausen SB, Bothe V, Busch LM, Völker U, Hammer E, Wende K, Cogné B, Isidor B, Meiler J, Bosc-Rosati A, Marcoux J, Bousquet MP, Poschmann J, Laumonnier F, Hildebrand PW, Eichler EE, McWalter K, Krawitz PM, Droit A, Elgersma Y, Grabrucker AM, Bolduc FV, Bézieau S, Ebstein F, Krüger E

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jan 26. Date of Electronic Publication: 2024 Jan 26.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Bradley CA; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Program in Neurosciences and Mental Health, The Hospital for Sick Children and Department of Physiology, University of Toronto, Toronto, Ontario, Canada., Howe JL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Salazar NB; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Shum C; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., MacDonald JR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Ko SY; Program in Neurosciences and Mental Health, The Hospital for Sick Children and Department of Physiology, University of Toronto, Toronto, Ontario, Canada., Frankland PW; Program in Neurosciences and Mental Health, The Hospital for Sick Children and Department of Physiology, University of Toronto, Toronto, Ontario, Canada.; Department of Psychology and Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada., Granger L; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, OR 97227, USA., Anadiotis G; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, OR 97227, USA., Pullano V; Department of Medical Sciences, University of Torino, Torino, Italy., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126 Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy., Keller R; Adult Autism Centre DSM ASL Città di Torino, 10138 Turin, Italy., Parisotto S; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey, USA., Pedro HF; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey, USA., Lusk L; Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA., McDonnell PP; Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Helbig I; Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Mullegama SV; GeneDx, Gaithersburg, MD, USA., Douine ED; Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA., Russell BE; Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA., Nelson SF; Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; McLaughlin Centre, Toronto, ON M5G 0A4, Canada.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Dec 27. Date of Electronic Publication: 2023 Dec 27.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Larsen ISB; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Povolo L; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Zhou L; Faculty of Medicine, Institute of Pharmacology, University of Marburg, 35043 Marburg, Germany., Tian W; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Mygind KJ; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Hintze J; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Jiang C; Faculty of Medicine, Institute of Pharmacology, University of Marburg, 35043 Marburg, Germany., Hartill V; Leeds Institute of Medical Research, University of Leeds, St James' University Hospital, Leeds LS2 9JT, United Kingdom.; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, United Kingdom., Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, United Kingdom., Johnson CA; Leeds Institute of Medical Research, University of Leeds, St James' University Hospital, Leeds LS2 9JT, United Kingdom., Mullegama SV; GeneDx, Gaithersburg, MD 20877., McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710., Hansen L; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Vakhrushev SY; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Schjoldager KT; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Clausen H; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Worzfeld T; Faculty of Medicine, Institute of Pharmacology, University of Marburg, 35043 Marburg, Germany.; Max-Planck-Institute for Heart and Lung Research, 61231 Bad Nauheim, Germany., Joshi HJ; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Halim A; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2023 May 23; Vol. 120 (21), pp. e2302584120. Date of Electronic Publication: 2023 May 15.

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

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Mannose*/metabolism , Mannosyltransferases*/genetics , Mannosyltransferases*/metabolism, Animals ; Glycosylation ; Mammals/metabolism

المؤلفون: Ramond F; Service de Génétique, Hôpital Nord, CHU Saint-Etienne, Saint-Etienne, France. Electronic address: Francis.Ramond@chu-st-etienne.fr., Dalgliesh C; Newcastle University Biosciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Wechsberg O; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Maccabi Healthcare Services, Tel Aviv, Israel., Vetro A; Neuroscience Department, Meyer Children's Hospital and University of Florence, Florence, Italy., Guerrini R; Neuroscience Department, Meyer Children's Hospital and University of Florence, Florence, Italy., FitzPatrick D; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, Scotland, United Kingdom., Poole RL; NHS Education for Scotland South East Region, South East of Scotland Clinical Genetics Service, Edinburgh, United Kingdom., Lebrun M; Service de Génétique, Hôpital Nord, CHU Saint-Etienne, Saint-Etienne, France., Bayat A; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Center, Dianalund, Denmark., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Witt D; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Turnpenny PD; Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile., Santa María L; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile., Mendoza Fuentes C; Unidad de Endocrinología, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile., Mabe P; Unidad de Neurología, Hospital de Niños Dr. Exequiel González Cortés, Santiago, Chile., Hussain SA; Division of Pediatric Neurology, University of California, Los Angeles, Los Angeles, CA., Mullegama SV; Clinical Genomics Program, GeneDx, MD., Torti E; Clinical Genomics Program, GeneDx, MD., Oehl-Jaschkowitz B; Practice of Human Genetics, Homburg (Saar), Germany., Salmon LB; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel; Pediatric Immunogenetics, Felsenstein Medical Research Center, Petach Tikva, Israel., 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., Shahar NR; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel., Hagari O; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel., Bazak L; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel., Hoffjan S; Abteilung für Humangenetik, Ruhr-Universitat Bochum, Bochum, Germany., Prada CE; 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., Haack T; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Elliott DJ; Newcastle University Biosciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom. Electronic address: David.Elliott@ncl.ac.uk.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Apr; Vol. 25 (4), pp. 100003. Date of Electronic Publication: 2022 Dec 20.

نوع المنشور: Journal Article; 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: Autism Spectrum Disorder* , Intellectual Disability*/genetics , Neurodevelopmental Disorders*/genetics, Humans ; Alternative Splicing ; RNA-Binding Proteins/genetics ; HEK293 Cells ; Protein Isoforms/genetics ; Serine-Arginine Splicing Factors/genetics ; Serine-Arginine Splicing Factors/metabolism ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism

المؤلفون: Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Mar 02; Vol. 110 (3), pp. 548.

نوع المنشور: Published Erratum

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

المؤلفون: Kuroda Y; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ritter A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mullegama SV; GeneDx, Gaithersburg, Maryland, USA., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 3130-3134. Date of Electronic Publication: 2022 Jul 14.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Scimitar Syndrome*/genetics , Smith-Magenis Syndrome*, Chromosomes, Human, Pair 17 ; Humans ; Trans-Activators/genetics ; Transcription Factors/genetics