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In The Lancet Neurology August 2025 24(8):667-680

Shafique, Anum ; Sultan, Tipu ; Alzahrani, Fatema ; Hun Seo, Go ; Alkuraya, Fowzan S ; Naz, Sadaf

In Gene 30 August 2023 879

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Aughey, G N, Cali, E, Maroofian, R, Zaki, M S, Pagnamenta, A T, Ali, Z, Abdulllah, U, Rahman, F, Menzies, L, Shafique, A, Suri, M, Roze, E, Aguennouz, M, Ghizlane, Z, Saadi, S M, Fatima, A, Cheema, H A, Anjum, M N, Morel, G, Robin, S, McFarland, R, Altunoglu, U, Kraus, V, Shoukier, M, Murphy, D, Flemming, K, Yttervik, H, Rhouda, H, Lesca, G, Chatron, N, Rossi, M, Murtaza, B N, Ur Rehman, M, Lord, J, Giacopuzzi, E, Hayat, A, Siraj, M, Shervin Badv, R, Seo, G H, Beetz, C, Kayserili, H, Krioulie, Y, Chung, W K, Naz, S, Maqbool, S, Chandler, K E, Kershaw, C J, Wright, T, Banka, S, Gleeson, J G, Taylor, J C, Efthymiou, S, Baig, S M, Severino, M, Jepson, J E C & Houlden, H 2025, 'Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder', Brain : a journal of neurology, vol. 148, no. 4, pp. 1194-1211. https://doi.org/10.1093/brain/awae363

Bayam, Efil; Tilly, Peggy; Collins, Stephan C; Rivera Alvarez, José; Kannan, Meghna; Tonneau, Lucile; Brivio, Elena; Rinaldi, Bruno; Lecat, Romain; Schwaller, Noémie; Cotellessa, Ludovica; Maddirevula, Sateesh; Monteiro, Fabiola; Guardia, Carlos M; Kitajima, João Paulo; Kok, Fernando; Kato, Mitsuhiro; Hamed, Ahlam A A; Salih, Mustafa A; Al Tala, Saeed; Hashem, Mais O; Tada, Hiroko; Saitsu, Hirotomo; Stabile, Mariano; Giacobini, Paolo; Friant, Sylvie; Yüksel, Zafer; Nakashima, Mitsuko; Alkuraya, Fowzan S; Yalcin, Binnaz; Godin, Juliette D

EMBO Molecular Medicine. 17(1):129-168

Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L; Liang, Robin A; Abdel-Hamid, Mohamed S; Sultan, Tipu; Barøy, Tuva; Ghelue, Marijke Van; Vona, Barbara; Maroofian, Reza; Zafar, Faisal; Alkuraya, Fowzan S; Zaki, Maha S; Severino, Mariasavina; Duru, Kingsley C; Tryon, Robert C; Brauteset, Lin Vigdis; Ansari, Morad

Brain: A Journal of Neurology. May2024, Vol. 147 Issue 5, p1822-1836. 15p.

Kim MS; Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA; Heart and Vascular Institute, Mass General Brigham, Boston, MA, USA.; Chen Q; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China.; Sui Y; Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA; Heart and Vascular Institute, Mass General Brigham, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.; Yang X; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.; Wang S; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China.; Weng LC; Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Cho SMJ; Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Koyama S; Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Zhu X; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; College of Future Technology, Sino-Danish College, University of Chinese Academy of Sciences, Beijing 101408, China.; Yu K; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China.; Chen X; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China.; Zhang R; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.; Yin W; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China.; Liao S; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China.; Liu Z; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China; College of Future Technology, Sino-Danish College, University of Chinese Academy of Sciences, Beijing 101408, China.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Lifera Omics, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Natarajan P; Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA; Heart and Vascular Institute, Mass General Brigham, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.; Ellinor PT; Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA; Heart and Vascular Institute, Mass General Brigham, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: ellinor@mgb.org.; Fahed AC; Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA; Heart and Vascular Institute, Mass General Brigham, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: afahed@mgh.harvard.edu.; Wang M; National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China; Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China; College of Future Technology, Sino-Danish College, University of Chinese Academy of Sciences, Beijing 101408, China; Department of Cardiovascular Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071, China; Hubei Provincial Engineering Research Center of Minimally Invasive Cardiovascular Surgery, Wuhan 430071, China; Wuhan Clinical Research Center for Minimally Invasive Treatment of Structural Heart Disease, Wuhan 430071, China. Electronic address: wangmx@big.ac.cn.

Publisher: Cell Press Country of Publication: United States NLM ID: 101233170 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-7420 (Electronic) Linking ISSN: 15504131 NLM ISO Abbreviation: Cell Metab Subsets: MEDLINE

Choudhary D; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Unlu G; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Department of Cell and Developmental Biology, Vanderbilt University, Nashville, TN, 37232, USA.; Present address: Laboratory of Metabolic Regulation and Genetics, The Rockefeller University, New York, NY, 10065, USA.; Nagai TH; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Melville DB; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Department of Cell and Developmental Biology, Vanderbilt University, Nashville, TN, 37232, USA.; Scalici A; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Present address: Department of Psychiatry, Yale University School of Medicine, New Haven, 06510, CT, USA.; Hashem MO; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ritter DJ; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Department of Cell and Developmental Biology, Vanderbilt University, Nashville, TN, 37232, USA.; Schmidt G; Developmental Biology, Institute Biology I, University of Freiburg, Hauptstrasse 1, Freiburg, 79104, Germany.; Guthrie CL; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Gamazon ER; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Clare Hall, University of Cambridge, Cambridge, CB3 9AL, UK.; Alkuraya FS; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Cox NJ; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Knapik EW; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA. ela.knapik@vumc.org.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA. ela.knapik@vumc.org.; Department of Cell and Developmental Biology, Vanderbilt University, Nashville, TN, 37232, USA. ela.knapik@vumc.org.; Developmental Biology, Institute Biology I, University of Freiburg, Hauptstrasse 1, Freiburg, 79104, Germany. ela.knapik@vumc.org.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE; In Process

Mendez R; Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, CA. Electronic address: mendezh@stanford.edu.; Arriaga TM; Department of Genetics, Stanford University, Stanford, CA.; Ma J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Bonner DE; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.; Emami S; Department of Genetics, Stanford University, Stanford, CA.; Levy RJ; Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA.; Alsagheir A; Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Alhaddad B; Lifera Omics, Riyadh, Saudi Arabia.; Bakur K; Lifera Omics, Riyadh, Saudi Arabia.; Ungar RA; Department of Genetics, Stanford University, Stanford, CA; Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA.; Matalon DR; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.; Miller AM; Department of Pathology, Stanford University, Stanford, CA.; Nguyen J; Department of Pathology, Stanford University, Stanford, CA.; Smith KS; Department of Pathology, Stanford University, Stanford, CA.; Scott SA; Department of Pathology, Stanford University, Stanford, CA; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA.; Liao L; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA.; Ng Z; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA.; Marwaha S; Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, CA.; Ward A; Department of Human Genetics, University of Utah, Salt Lake City, UT; Frameshift Labs, Cambridge, MA.; Novacic D; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Alkuraya FS; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; Lifera Omics, Riyadh, Saudi Arabia; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Bernstein JA; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.; Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Department of Neurology, Brigham and Women's Hospital, Boston, MA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Montgomery SB; Department of Genetics, Stanford University, Stanford, CA; Department of Pathology, Stanford University, Stanford, CA.; Wheeler MT; Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, CA. Electronic address: wheelerm@stanford.edu.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Ali H; Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Health Sciences Center, Kuwait University, Jabriya, Kuwait.; Translational Research Department, Dasman Diabetes Institute, Dasman, Kuwait.; Ministry of Health, Kuwait City, Kuwait.; Alahmad B; Translational Research Department, Dasman Diabetes Institute, Dasman, Kuwait.; Ministry of Health, Kuwait City, Kuwait.; Harvard T H Chan School of Public Health, Harvard University, Boston, MA, USA.; Alibrahim A; Translational Research Department, Dasman Diabetes Institute, Dasman, Kuwait.; Ministry of Health, Kuwait City, Kuwait.; Kennedy School of Government, Harvard University, Cambridge, MA, USA.; Marafi D; Department of Pediatrics, Faculty of Medicine, Health Sciences Center, Kuwait University, Jabriya, Kuwait.; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Alsharhan H; Department of Pediatrics, Faculty of Medicine, Health Sciences Center, Kuwait University, Jabriya, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Al Sabah S; Authority For Medical Responsibility, Kuwait City, Kuwait.; Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Fakhro KA; Research Branch, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar.; Lashuel HA; Qatar Foundation, Doha, Qatar.; Weil Cornell Medicine Qatar, Education City, Qatar Foundation, Doha, Qatar.; Department of Neurology, Weil Cornell Medicine, New York, NY, USA.; Alkuraya FS; Lifera Omics, Riyadh, Kingdom of Saudi Arabia.; Division of Biomedical Sciences, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.; Alkhnbashi OS; Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Alsheikh-Ali A; Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Dubai Health Authority, Dubai, United Arab Emirates.; Al-Mulla F; Translational Research Department, Dasman Diabetes Institute, Dasman, Kuwait.; Abou Tayoun A; Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. ahmad.tayoun@dubaihealth.ae.; Genomic Medicine Center, Dubai Health, Dubai, United Arab Emirates. ahmad.tayoun@dubaihealth.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. ahmad.tayoun@dubaihealth.ae.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Alfares A; Precision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. aalfares@kfshrc.edu.sa.; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. aalfares@kfshrc.edu.sa.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. aalfares@kfshrc.edu.sa.; Imtiaz F; Precision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Maddirevula S; Precision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Moghrabi N; Precision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alhamdoosh M; Department of Computational Sciences, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alazami AM; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alowain M; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alsuwaidan A; Precision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alsedairy S; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Meyer BF; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Abouelhoda M; Department of Computational Sciences, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Bindayel I; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alkuraya FS; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Baz SM; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Mallawi Y; Heart Center, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Office of Chief Executive Officer, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; In Process

Alabdi L; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Cogne B; Service de Génétique Médicale, Nantes Université, CHU de Nantes, Nantes, France.; CHU de Nantes, CNRS, INSERM, L'institut du Thorax, F-44000, Nantes Université, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Almasood AS; Adult Cardiology Department, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alsehly A; Pediatric Cardiology Department, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Helaby R; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Maddirevula S; Precision Medicine Laboratory, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Besnard T; Service de Génétique Médicale, Nantes Université, CHU de Nantes, Nantes, France.; CHU de Nantes, CNRS, INSERM, L'institut du Thorax, F-44000, Nantes Université, Nantes, France.; Do Souto L; Service de Génétique Médicale, Nantes Université, CHU de Nantes, Nantes, France.; Isidor B; Service de Génétique Médicale, Nantes Université, CHU de Nantes, Nantes, France.; CHU de Nantes, CNRS, INSERM, L'institut du Thorax, F-44000, Nantes Université, Nantes, France.; Alkuraya FS; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Lifera Omics, Riyadh, Saudi Arabia.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Morsy H; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt. Electronic address: heba.morsy@ucl.ac.uk.; Kim H; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu 42988, Korea; Center for Synapse Diversity and Specificity, DGIST, Daegu 42988, Korea.; Jang G; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu 42988, Korea; Center for Synapse Diversity and Specificity, DGIST, Daegu 42988, Korea.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Hussien H; Kuwait Hospital, Sabah Al-Salem, Block1, Kuwait.; Self E; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.; Albaradie RS; King Fahd Specialist Hospital, Dammam, Saudi Arabia.; Bakur K; Lifera Omics, Riyadh 13519, Saudi Arabia.; Firoozfar Z; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK; Palindrome, Isfahan, Iran.; Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.; Noureldeen MM; Department of Paediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.; Nabil A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Alvi JR; Department of Paediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan.; Molavi F; Dr. ALibakhshi Medical Genetics Laboratory, Kermanshah, Iran; Department of Animal Biology, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran.; Alavi S; Palindrome, Isfahan, Iran; Department of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Alibakhshi R; Dr. ALibakhshi Medical Genetics Laboratory, Kermanshah, Iran; Department of Biochemistry, Kermanshah University of Medical Sciences, Kermanshah, Iran.; Topcu V; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Mancilar H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Uctepe E; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye; Acibadem Maslak Hospital, Istanbul, Türkiye.; Aldhalaan H; Neuroscience Centre of Excellence, KFSH&RC, Riyadh, Saudi Arabia.; Showki Tous ES; Neuroscience Centre of Excellence, KFSH&RC, Riyadh, Saudi Arabia.; Alhaddad B; Lifera Omics, Riyadh 13519, Saudi Arabia.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Scardamaglia A; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.; Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany.; Gagneur J; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany; Computational Health Center, Helmholtz Munich, Neuherberg, Germany; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Omar TI; Neurology Unit, Department of Paediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.; Abd Elmaksoud M; Neurology Unit, Department of Paediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.; Vandrovocova J; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Reilly MM; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.; Sultan T; Department of Paediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan.; Alkuraya FS; Lifera Omics, Riyadh 13519, Saudi Arabia; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla CA 92093, USA.; Um JW; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu 42988, Korea; Center for Synapse Diversity and Specificity, DGIST, Daegu 42988, Korea.; Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.; Ko J; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu 42988, Korea; Center for Synapse Diversity and Specificity, DGIST, Daegu 42988, Korea. Electronic address: jaewonko@dgist.ac.kr.; Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.

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

Levine JM; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: jesse.levine@bcm.edu.; Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Saad A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Uctepe E; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Celik MY; Department of Pediatric Metabolism, Adana City Training and Research Hospital, Adana, Türkiye.; Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye; Acibadem Maslak Hospital, Istanbul, Türkiye.; Yildiz Er H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Yilmaz Gulec E; Department of Medical Genetics, İstanbul Medeniyet University Medical School, Istanbul, Türkiye; Medical Genetics Clinic, Istanbul Goztepe Prof. Dr. Suleyman Yalcin City Hospital, Istanbul, Türkiye.; Mushiba A; Section of Medical Genetics, Department of Pediatrics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Almontashiri N; College of Applied Medical Sciences and Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Saudi Arabia; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Wiszniewski W; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.; Karaca E; Department of Pathology, Baylor University Medical Center, Dallas, TX, USA; Texas A&M School of Medicine, Dallas, TX, USA.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Medical Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Lifera Omics, Riyadh, Saudi Arabia.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Bujakowska KM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.edu.

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

Alatawi A; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alshehri O; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alessa A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Al Mutairi F; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; AlSaleh N; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Eyaid W; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alsamri A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Faqeih E; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Mushiba A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Saleh M; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Alotaibi M; Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia.; Tabarki B; Department of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Aljadhai YI; Department of Radiology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Alkuraya FS; Lifera Omics, Riyadh, Saudi Arabia.; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Alfadhel M; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Almannai M; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

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Berezhnaya E; Department of Pathology and Genomic Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Cartes-Saavedra B; Department of Pathology and Genomic Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Singh R; Department of Pathology and Genomic Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Rodríguez-Prados M; Department of Pathology and Genomic Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Reiner O; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel; Department of Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hajnóczky G; Department of Pathology and Genomic Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address: gyorgy.hajnoczky@jefferson.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Müller C; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Elhossini RM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Kurdi W; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Celse T; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, Saint-Denis, France.; Spodenkiewicz M; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, Saint-Denis, France.; Laurens T; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, Saint-Denis, France.; Dieterich K; Universite Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Grenoble, France.; Medical Genetics, Institute of Advanced Biosciences, Grenoble, France.; Jagadeesh S; Mediscan Systems, Chennai, India.; Salvankar S; Suma Genomics Private Limited, Manipal, India.; Girisha KM; Suma Genomics Private Limited, Manipal, India.; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kkutsche@uke.de.; German Center for Child and Adolescent Health (DZKJ), partner site Hamburg, Hamburg, Germany. kkutsche@uke.de.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Parenti I; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Hesters A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Gil-Salvador M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Duffy L; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Kanber D; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Beygo J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Steenpaß L; Human and Animal Cell Lines, Leibniz-Institute DSMZ-German Collection of Microorganisms and Cell Cultures GmbH, Inhoffenstraße 7B, 38124, Braunschweig, Germany.; Zoological Institute, Technische Universität Braunschweig, 38106, Braunschweig, Germany.; Leitão E; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Woestefeld J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Boone PM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA.; Alabdi L; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Aldhalaan HM; Autism Department King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Lifera Omics, Riyadh 13519, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Alshammari MJ; Department of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Basel D; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Cassinari K; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, F-76000 Rouen, France.; de Polli Cellin L; Genetic Endocrinology Unit, Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brazil.; Clause AR; Illumina Laboratory Services, Illumina Inc., San Diego, CA, USA.; Neurology, Washington University in St. Louis, St. Louis, MO, USA.; de Lima Jorge AA; Genetic Endocrinology Unit, Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brazil.; de Castro Leal A; Department of Integrated Health, State University of Para, Santarem 68010-200, Brazil.; Collins SC; Université Bourgogne-Europe, Dijon, France, Inserm U1231, Dijon, France.; Institut NeuroMyoGène, Unité Physiopathologie et Génétique du Neurone et du Muscle, Université Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, France.; Durand B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Eckhold J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Hashem MO; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Jayakar P; Division of Genetics & Metabolism, Nicklaus Children's Hospital, Miami, Florida, USA.; Khan AO; Ophthalmology, Integrated Surgical Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA.; Kato K; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol, UK.; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Kubica R; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Lyon GJ; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York, USA.; Marchi E; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.; McCarrier J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Kimmig LK; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Mizuno S; Department of Pediatrics, Aichi Developmental Disability Center, Kasugai, Japan.; Nicolas G; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, F-76000 Rouen, France.; Nishio Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Department of Pediatrics, Aichi Developmental Disability Center, Kasugai, Japan.; Medical Genomics Center, Nagoya University Hospital, Nagoya, 466-8550, Japan.; Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Pié J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Prell J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Ramos FJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Clinical Genetics Unit, Service of Pediatrics, University Hospital 'Lozano Blesa', University of Zaragoza School of Medicine, CIBERER-GV02, Zaragoza, Spain.; Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Redin C; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Rush E; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, MO, USA.; Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, Japan.; Shamseldin HE; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Starling S; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Astiazaran-Symonds E; Department of Medicine, College of Medicine-Tucson, University of Arizona, Tucson, AZ, USA.; Taher S; Department of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada.; Yalcin B; Université Bourgogne-Europe, Dijon, France, Inserm U1231, Dijon, France.; Institut NeuroMyoGène, Unité Physiopathologie et Génétique du Neurone et du Muscle, Université Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, France.; Wendt KS; Erasmus Medical Centre, Department of Developmental Biology, Rotterdam, The Netherlands.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany.

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

Asadollahi R; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. R.Asadollahi@greenwich.ac.uk.; Faculty of Engineering and Science, University of Greenwich London, Medway Campus, Chatham Maritime, London, UK. R.Asadollahi@greenwich.ac.uk.; Ahmad A; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Boonsawat P; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Shahanoor Hinzen J; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Lohse M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Bouazza-Arostegui B; Institute of Neurophysiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Sun S; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Utesch T; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Sommer JD; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ilic D; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Padmanarayana M; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Fischermanns K; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ranjan M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Boll M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ka C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.; Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.; Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Reinson K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.; Stephan BO; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Bertola DR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Hospital, Memphis, TN, USA.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Heath O; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Brown NJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Lake NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Zeidler S; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Zuurbier L; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.; Maas SM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.; de Kruiff CC; Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.; Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Beblo S; Center for Pediatric Research, University Hospital for Children and Adolescents, and Centre for Rare Diseases, University Hospital Leipzig, Leipzig, Germany.; Maxton C; Zentrum für Kinderneurologie, Hamburg, Germany.; Śmigiel R; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wrocław, Wrocław, Poland.; Underhill H; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.; Dubbs H; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Rosen A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig KL; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig I; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Center for Epilepsy and Neurodevelopmental Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Ruggiero SM; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Fitzgerald MP; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Kraemer D; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Prada CE; Division of Genetics and Rare Diseases, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Tenney J; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.; Redon S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Lefranc J; Pediatrics Department, Competence Center for Epilepsy, Hôpital Morvan, CHU Brest, Brest, France.; Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Race S; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Coppens S; Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; Deconinck N; Centre de Référence Neuromusculaire and Paediatric Neurology Department, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles, Brussels, Belgium.; Ashokkumar B; School of Biotechnology, Madurai Kamaraj University, Madurai, India.; Varalakshmi P; School of Biotechnology, Madurai Kamaraj University, Madurai, India.; Gowda K VR; Indira Gandhi Institute of Child Health, Bangalore, India.; Bangalore Child Neurology and Rehabilitation Center, Bangalore, India.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Neidhardt J; Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany.; Owczarek-Lipska M; Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany.; Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.; Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Quebec, Canada.; Lehman A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.; Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA.; Chen Y; GeneDx, LLC, Gaithersburg, MD, USA.; Szuto A; The Hospital for Sick Children, Toronto, Ontario, Canada.; Cohn RD; The Hospital for Sick Children, Toronto, Ontario, Canada.; Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Hübner C; Department of Neuropediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Boschann F; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Manickam K; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Koboldt DC; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Rad A; Arcensus GmbH, Rostock, Germany.; Oprea G; Arcensus GmbH, Rostock, Germany.; Bachman KK; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA.; Seeley AH; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Terracciano A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Carmelo P; Medical and Laboratory Genetics Unit, A.O.R.N. 'Antonio Cardarelli', Naples, Italy.; Bupp C; Corewell Health West Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Grysko B; Corewell Health West Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Rein-Rothschild A; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Ben Zeev B; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Margolin A; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.; Morrison J; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.; Dagli A; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.; Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Washington C; Greenwood Genetic Center, Greenwood, SC, USA.; Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Heijligers M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Neu A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Paoli Monteiro F; Medical Department, Mendelics Genomic Analysis, São Paulo, Brazil.; Santos Pessoa AL; Federal University of Ceará - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.; Camelo-Filho AE; Federal University of Ceará - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.; Kok F; Department of Neurology, Neurogenetics Center, University of São Paulo, São Paulo, Brazil.; Koeberl D; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Riley K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Burglen L; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, Hôpital Trousseau, AP-HP.Sorbonne Université, Paris, France.; Doummar D; Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France.; Héron B; Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France.; Mignot C; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France.; Keren B; 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Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE