부산대학교 도서관

Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Sandoval A; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Maroofian R; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, WC1N 3BG London, UK.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, University Rouen Normandie, Inserm U1245 and CHU Rouen, 76000 Rouen, France.; Al Shamsi AM; Department of Pediatrics, Division of Genetic and Metabolic, Tawam Hospital, Al Ain, United Arab Emirates.; Lee GS; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Yesilbas O; Division of Pediatric Critical Care Medicine, Ataşehir Memorial Hospital, İstanbul, Türkiye.; Taylor P; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; McDougal MB; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Bahrambeigi V; Diagnostic Genetics and Genomics, Yale University School of Medicine, New Haven, CT, USA.; Aryani O; Neuroscience Department, Iran University of Medical Sciences, Tehran, Iran.; Ramirez JF; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Salih KH; Clinical Science, College of Medicine, University of Sulaimani, Sulaymaniyah, Iraq.; Al Alam C; Division of Pediatric Neurology, American Center for Psychiatry and Neurology, Abu Dhabi and Al Ain, United Arab Emirates.; Morsy H; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, WC1N 3BG London, UK; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Hussien H; Kuwait Hospital, Block1, Sabah Al-Salem, Kuwait.; Omar T; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.; Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Brehin AC; Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, U1245 and Rouen University Hospital, Inserm, 76000 Rouen, France.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Kalayci T; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Rahma JA; Neuropediatric, Clalit Health Services, Haifa and West Galilee, Israel.; Talbeya JK; Department of Radiology, The Bnai Zion Medical Center, Haifa, Israel.; Dabbah H; Pediatrics, Clalit Health Services, Haifa and West Galilee, Israel.; Verspyck E; Department of Obstetrics and Gynecology, Rouen University Hospital, Rouen, France.; Moosavian T; Pediatric Department, Pediatric Neurology Department, Loghman Hakim Hospital, Shanid Beheshti University of Medical Sciences, Tehran, Iran.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, University Rouen Normandie, Inserm U1245 and CHU Rouen, 76000 Rouen, France.; Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Brookline, MA, USA.; Houlden H; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, WC1N 3BG London, UK.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Shalata A; The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Haifa 32000, Israel. Electronic address: adel.shalata@b-zion.org.il.; Yoon WH; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA. Electronic address: wanhee-yoon@omrf.org.

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

Marafi, Dana; Fatih, Jawid M; Kaiyrzhanov, Rauan; Ferla, Matteo P; Gijavanekar, Charul; Al-Maraghi, Aljazi; Liu, Ning; Sites, Emily; Alsaif, Hessa S; Al-Owain, Mohammad; Zakkariah, Mohamed; El-Anany, Ehab; Guliyeva, Ulviyya; Guliyeva, Sughra; Gaba, Colette; Haseeb, Ateeq; Alhashem, Amal M; Danish, Enam; Karageorgou, Vasiliki; Beetz, Christian

Brain: A Journal of Neurology. Mar2022, Vol. 145 Issue 3, p909-924. 16p.

Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Yesil G; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul 34093, Turkey.; Elçioglu NH; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul and Eastern Mediterranean University Faculty of Medicine, Mersin 10, Turkey.; Gezdirici A; Department of Medical Genetics, University of Health Sciences, Basaksehir Cam and Sakura City Hospital, 34480 Istanbul, Turkey.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Gambin T; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; 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.; Xia ZJ; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Sumya FT; Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Baig SM; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.; Pakistan Science Foundation (PSF), Islamabad, Pakistan.; Abdullah U; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.; Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Swat, Pakistan.; Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Withers MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Lupashin VV; Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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

Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; El-Rashidy OF; Department of Pediatrics, Faculty of Medicine Ain Shams University, Cairo, Egypt.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Pacific Northwest Research Institute, Seattle, WA, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Du H; Department of Molecular and Human Genetics, 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.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.

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

Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. Electronic address: daniel.calame@bcm.edu.; Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Patankar SG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; 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.; Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ.; Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ.; Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Boys Town National Research Hospital, Boys Town, NE.; Ammouri F; Boys Town National Research Hospital, Boys Town, NE; The University of Kansas Health System, Westwood, KS.; Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.; Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Alavi S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom.; Firoozfar Z; Palindrome, Isfahan, Iran.; Nasab ME; Meybod Genetic Research Center, Yazd, Iran; Yazd Welfare Organization, Yazd, Iran.; Bahreini A; KaryoGen, Isfahan, Iran; Department of Human Genetics, University of Pittsburgh, PA.; Ghasemi M; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.; Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.; Goldouzi HR; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom.; Begtrup A; GeneDx, Gaithersburg, MD.; Elloumi H; GeneDx, Gaithersburg, MD.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.; Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Isikay S; Gaziantep Islam Science and Technology University, Medical Faculty, Department of Pediatric Neurology, Gaziantep, Turkey.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.; Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA.; Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA.; Oberg KC; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA.; Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA.; Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine Department, University College London, United Kingdom.; Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Zaki M; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Mardi A; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Manzini MC; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Bujakowska K; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Lupski JR; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX. Electronic address: jlupski@bcm.edu.; Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. Electronic address: bchnnl@nus.edu.sg.

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

Bergen, Nicole J Van; Guo, Yiran; Al-Deri, Noraldin; Lipatova, Zhanna; Stanga, Daniela; Zhao, Sarah; Murtazina, Rakhilya; Gyurkovska, Valeriya; Pehlivan, Davut; Mitani, Tadahiro; Gezdirici, Alper; Antony, Jayne; Collins, Felicity; Willis, Mary J H; Akdemir, Zeynep H Coban; Liu, Pengfei; Punetha, Jaya; Hunter, Jill V; Jhangiani, Shalini N; Fatih, Jawid M

Brain: A Journal of Neurology. Jan2020, Vol. 143 Issue 1, p112-130. 19p.

Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA.; Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; 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.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.; Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA.; Li H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Sedlazeck FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; 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, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Pacific Northwest Research Institute, Seattle, Washington, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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

Pehlivan D; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA. pehlivan@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. pehlivan@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. pehlivan@bcm.edu.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA. pehlivan@bcm.edu.; Bengtsson JD; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Bajikar SS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Lun MY; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Gandhi M; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Trostle AJ; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA.; Harris HK; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; The Meyer Center for Developmental Pediatrics and Autism, 8080 North Stadium Drive, Houston, TX, 77054, USA.; Suter B; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Aras S; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA.; Ramocki MB; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; University Otolaryngology, East Greenwich, RI, 02818, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Mehaffey MG; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Park K; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Wilkey E; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Karakas C; Department of Pediatrics, Division of Neurology, University of Louisville, Louisville, KY, 40202, USA.; Eisfeldt JJ; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Pettersson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Liu L; Department of Neurology, Division of Epilepsy, University of North Carolina, Chapel Hill, NC, 27599, USA.; Shinawi MS; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Kimonis VE; Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, CA, 92697, USA.; Wiszniewski W; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, 97239, USA.; Mckenzie K; Department of Pediatrics, Division of General and Community Pediatrics, University of Alberta, Edmonton, AB, T6G 2R7, Canada.; Roser T; Department of Pediatrics, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. Von Haunersches Children's Hospital, Ludwig Maximilian University of Munich, Munich, 80337, Germany.; Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Institute of Biosciences, São Paulo - SP, 05508-090, Brazil.; Cornier AS; Department of Genetics, San Jorge Children's Hospital, San Juan, 00771, Puerto Rico.; Abdelmoity A; Division of Neurology, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, 64108, USA.; Hwang JP; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Mitani T; Department of Pediatrics, Jichi Medical University, Shimotsuke-City, Tochigi, 329-0498, Japan.; Muramatsu K; Department of Pediatrics, Jichi Medical University, Shimotsuke-City, Tochigi, 329-0498, Japan.; Nabatame S; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, 565-0871, Japan.; Glaze DG; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Liu Z; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA.; Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Zoghbi HY; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA. hzoghbi@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. hzoghbi@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. hzoghbi@bcm.edu.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA. hzoghbi@bcm.edu.; Howard Hughes Medical Institute and Jan and Dan Duncan Neurological Research Institute, Houston, TX, 77030, USA. hzoghbi@bcm.edu.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. ccarvalho@pnri.org.; Pacific Northwest Research Institute, Seattle, WA, 98122, USA. ccarvalho@pnri.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

Barish S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey.; Alhebby H; Division of Gastroenterology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Trimouille A; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France; INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux University, Bordeaux, France.; Biderman Waberski M; Inova Health System, Falls Church, VA, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Huber I; Department of Pediatrics, Sørlandet Hospital, Arendal, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Ghayoor Karimiani E; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Beiraghi Toosi M; Department of Pediatric Diseases, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Shervin Badv R; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Akhondian J; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Al Safar A; College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia; Department of Paediatrics, King Fahd Hospital of University, Al-khobar, Saudi Arabia.; Alswaid A; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, MC 1940, King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110, Kuwait.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; von der Lippe C; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Wali S; Division of Gastroenterology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: jennifer.posey@bcm.edu.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: pehlivan@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

Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Donis KC; Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Porto Alegre Clinical Hospital, Porto Alegre, Brazil.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Sousa SB; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.; Medical Genetics Unit, Hospital Pediatrico, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.; Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.; Ito YA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Rocca C; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Hunter JV; Texas Children's Hospital, Houston, TX, USA.; Division of Neuroradiology, Edward B. Singleton Department of Radiology, Texas Children's Hospital, Houston, TX, USA.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Emrick LT; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Lossos A; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University, Jerusalem, Israel.; Fellig Y; Department of Pathology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University, Jerusalem, Israel.; Prus E; Hematology and Bone Marrow Transplantation Division, Hadassah Medical Center and Hebrew University, Jerusalem, Israel.; Kalish Y; Hematology and Bone Marrow Transplantation Division, Hadassah Medical Center and Hebrew University, Jerusalem, Israel.; Meiner V; Department of Genetics, Hadassah Medical Center and Hebrew University, Jerusalem, Israel.; Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Muirhead K; Division of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, Philadelphia, PA, USA.; Saadi NW; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, Center of Excellence of Human Genetics, National Research Centre, Cairo, Dokki, Egypt.; Bouman A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Skidmore DL; Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Silva TO; Medical Genetics Service, Porto Alegre Clinical Hospital, Porto Alegre, Brazil.; Postgraduate Program in Medicine: Medical Sciences, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Karimiani EG; Genetics Section, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.; Jamshidi Y; Genetics Section, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.; Jaddoa AG; Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq.; Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skövde, Skövde, Sweden.; Jin SC; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Abbaszadegan MR; Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran.; Ebrahimzadeh-Vesal R; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran.; Hosseini S; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran.; Alavi S; Department of Cell and Molecular Biology & Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.; Bahreini A; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Zarean E; Department of Perinatology, Isfahan University of Medical Sciences, Isfahan, Iran.; Salehi MM; Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran.; Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia.; Zifarelli G; Centogene GmbH, Rostock, Germany.; Bauer P; Centogene GmbH, Rostock, Germany.; Robson SC; Center for Inflammation Research, Transplantation, Departments of Medicine and Anesthesia, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Travaglini L; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy.; Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy.; Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy.; Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; 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.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Ottawa, Ontario, Canada.; Morales Saute JA; Medical Genetics Service, Porto Alegre Clinical Hospital, Porto Alegre, Brazil.; Department of Internal Medicine, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Neurology Service, Porto Alegre Clinical Hospital, Porto Alegre, Brazil.; Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, 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, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

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

Taşdelen E; Department of Medical Genetics, Sanliurfa Education and Research Hospital, Şanlıurfa, Turkey.; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.; Calame DG; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, University of Utah, Salt Lake, Utah, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Herman I; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Boys Town National Research Hospital, Boys Town, Nebraska, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; 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.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Altıparmak T; Department of Neurology, Cankırı State Hospital, Cankırı, Turkey.; Kutlay NY; Department of Medical Genetics, Sanliurfa Education and Research Hospital, Şanlıurfa, Turkey.; Lupski JR; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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

Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Bengtsson JD; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Gandhi M; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Lun MY; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Mehaffey MG; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Park K; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Höps W; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; Benito E; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; Hasenfeld P; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; Korbel JO; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; Mahmoud M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Paulin LF; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Hwang JP; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Bhamidipati SV; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Pendleton M; Oxford Nanopore Technologies, New York, NY 10013, USA.; Harrington E; Oxford Nanopore Technologies, New York, NY 10013, USA.; Juul S; Oxford Nanopore Technologies, New York, NY 10013, USA.; Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden.; Sedlazeck FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Computer Science, Rice University, Houston TX 77030, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Carvalho CMB; Pacific Northwest Research Institute, Seattle, WA 98122, USA. Electronic address: ccarvalho@pnri.org.

Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: MEDLINE

Manor J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Tran A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Parnes M; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Mehta VP; Department of Pathology, Texas Children's Hospital, Houston, TX, USA.; Adesina AM; Department of Pathology, Texas Children's Hospital, Houston, TX, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Sha Tin, Hong Kong SAR.; Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; 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.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Hegazy I; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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

Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, 77030, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jones EG; Division of Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, 77030, USA.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Wehrens XHT; Division of Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, 77030, USA.; Cardiovascular Research Institute, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, 77021, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, 77021, USA.; Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. zeynep.h.cobanakdemir@uth.tmc.edu.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA. zeynep.h.cobanakdemir@uth.tmc.edu.; Morris SA; Division of Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, 77030, USA. shainem@bcm.edu.

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

Calame DG; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Herman I; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Milewicz DM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Center at Houston, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; 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.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA.; Fan Y; John Welsh Cardiovascular Diagnostic Laboratory, Departments of Pediatrics and Pathology & Immunology, Baylor College of Medicine, Houston, Texas, USA.; Lupski JR; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Miyake CY; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.

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

Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Rahman F; Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.; Anwar N; Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.; Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Yip J; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Hunter JV; Division of Neuroradiology, Edward B. Singleton Department of Radiology, Texas Children's Hospital, Houston, Texas, USA.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Yilmaz Gulec E; Department of Medical Genetics, Health Sciences University, Istanbul Kanuni Sultan Suleyman Research and Training Hospital, Istanbul, Turkey.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; 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.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, University of Texas Health Science Center at Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, University of Texas Health Science Center at Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Maqbool S; Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.

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

Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Saadi NW; College of Medicine, University of Baghdad, Baghdad, Iraq.; Children Welfare Teaching Hospital, Medical City Complex, Baghdad, Iraq.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Bhadila G; Department of Advanced Oral Sciences and Therapeutics, University of Maryland School of Dentistry, Baltimore, Maryland, USA.; Department of Pediatric Dentistry, Faculty of Dentistry, King AbdulAziz University, Jeddah, Saudi Arabia.; Faridoun A; Department of General Dental Practice, Faculty of Dentistry, Kuwait University, Kuwait.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine & Texas Children's Hospital, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; 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.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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

Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; 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.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Rafat K; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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