부산대학교 도서관

Gleeson, Joseph J; Boal, Hayley; Sharp, Thomas; Morris, Rebecca

Cureus

Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Ferla M; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK.; Tortora D; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saadi SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Abdullah U; University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, 46300 Rawalpindi, Pakistan.; Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Yeşil G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Al Shamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE.; Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.; Saadi NW; College of Medicine, University of Baghdad, 10071 Baghdad, Iraq.; Children Welfare Teaching Hospital, 10071 Baghdad, Iraq.; Al Mutairi F; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; Alabdi L; Department of Zoology, College of Science, King Saud University, 11421 Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia.; Beetz C; Centogene GmbH, 18055 Rostock, Germany.; Ali Z; Department of Cellular and Molecular Medicine, WJC PANUM, University of Copenhagen, DK-1165 Copenhagen, Denmark.; Centre for Biotechnology and Microbiology, University of Swat, Swat 19120, Pakistan.; Toosi MB; Pediatric Neurology Department Pediatric Ward Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.; Department of Child Neurology, Children's Hospital, Paediatric Research Center, University of Helsinki and Helsinki University Hospital, 00014 Helsinki, Finland.; Muhammad J; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Centre for Regenerative Medicine and Stem Cell Research, Juma Building, Aga Khan University, Karachi 74800, Pakistan.; Khan S; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Al Shalan M; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.; Marom D; Genetics Institute and Genomic Center, Tel Aviv Sourasky Medical Center, and Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Elhanan E; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, Kuwait.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Spaull R; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Meng L; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Lalani S; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Maqbool S; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan.; Rahman F; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan.; Seeger J; Center for Social Pediatrics and Epilepsy Outpatient Clinic Frankfurt Mitte, 60316 Frankfurt am Main, Germany.; Palculict TB; GeneDx, Gaithersburg, MD 20877, USA.; Lau T; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Mencacci NE; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Begemann A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Akbas S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Aslanger AD; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Salpietro V; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences (DISCAB), University of L'Aquila, 67100 L'Aquila, Italy.; Yousaf H; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Ben-Shachar S; Clalit Research Institute, Clalit Health Services, 6578898 Ramat Gan, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ejeskär K; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden.; Al Aqeel AI; Department of Pediatrics, Prince Sultan Military Medical City, 12233 Riyadh, Saudi Arabia.; American University of Beirut, 1107 2020 Beirut, Lebanon.; Alfaisal University, 11533 Riyadh, Saudi Arabia.; High FA; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Harvard Medical School, Boston, MA 02115, USA.; Armstrong-Javors AE; Harvard Medical School, Boston, MA 02115, USA.; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Zahraei SM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Diabetes Research center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Asl SN; Department of Pediatrics Endocrinology, Mashhad University of Medical Sciences, Mashhad, Iran.; Shahrooei M; Specialized Immunology Laboratory of Dr Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, 3000 Leuven, Belgium.; Zifarelli G; Centogene GmbH, 18055 Rostock, Germany.; Burglen L; Cerebellar Malformations and Congenital diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, 75015 Paris, France.; Ravelli C; Pediatric Neurology Department, Movement Disorders Center, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France.; Zschocke J; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Schatz UA; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich, 81675 Munich, Germany.; Ghavideldarestani M; Hull York Medical School, Hull HU6 7RX, UK.; Kamel WA; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Neurology, Faculty of Medicine, Beni-Suef University, 62521 Beni Suef, Egypt.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven-University of Leuven, 3000 Leuven, Belgium.; Hackenberg A; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, 8032 Zürich, Switzerland.; Taylor JC; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK.; Al-Gazali L; Departments of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE.; Bauer P; Centogene GmbH, 18055 Rostock, Germany.; Gleeson JJ; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, 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.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Chung WK; Boston Children's Hospital and Harvard Medical School Boston, MA 02115, USA.; Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, 74800 Karachi, Pakistan.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

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

Hengel, Holger; Hannan, Shabab B; Dyack, Sarah; MacKay, Sara B; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S; Alzaidan, Hamad; Alsaif, Hessa S; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R; Gleeson, Joseph J; Dehghani, Mohammadreza; Mehrjardi, Mohammad YV; Sherr, Elliott H; Parks, Kendall C; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A; Pagnamenta, Alistair T; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Consortium, Care4Rare Canada; Consortium, Genomics England Research; Rieß, Angelika; Haack, Tobias B; Nägele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schöls, Ludger

Am J Hum Genet
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
Care4Rare Canada Consortium 2021, 'Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082. https://doi.org/10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics, vol 108, iss 6
The American Journal of Human Genetics

Gleeson, Joseph J; Berg, Andrew J; Loughenbury, Peter R; Selvanathan, Senthil K; Leung, Andraay

Cureus

Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Lau T; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Sen S; Department of Chemistry and Biochemistry, The Ohio State University, 100 West 18th Avenue, Columbus, Ohio, 43210, USA.; Azizimalamiri R; Department of Paediatric Neurology, Golestan, Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Sayin GY; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34098, Turkey.; Hilander T; Genetics Section, Molecular and Clinical Sciences, St George's, University of London, London, UK.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Chelban V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Brown R; Oxford Medical Genetics Laboratories, The Churchill Hospital, Oxford, OX3 7LJ, UK.; Thompson K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Scarano MI; Division of Genetics, Cooper Health System, Children's Regional Hospital, Sheridan Pavilion Camden, New Jersy, 08103, USA.; Ganesh J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Koneev K; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan.; Gülaçar IM; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34098, Turkey.; Department of Genetics, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, 34098, Turkey.; Person R; GeneDx, Gaithersburg, Maryland, 20877, USA.; Sadykova D; Astana Medical University, Nur-Sultan, Kazakhstan.; Maidyrov Y; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan.; Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Zadagali A; L.N. Gumilyov Eurasian National University, Nur-Sultan, Kazakhstan.; Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.; Division of Medical Genetics, Department Specialized Medicine, McGill University Health Centre, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; Allis K; GeneDx, Gaithersburg, Maryland, 20877, USA.; Elloumi HZ; GeneDx, Gaithersburg, Maryland, 20877, USA.; Lindy A; GeneDx, Gaithersburg, Maryland, 20877, USA.; Taghiabadi E; Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran.; Verma S; Department of Neurology, Emory University School of Medicine, Georgia, Atlanta, USA.; Logan R; Division of Neurosciences, Children's Healthcare of Atlanta, Atlanta, Georgia, USA.; Kirmse B; Division of Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.; Bai R; GeneDx, Gaithersburg, Maryland, 20877, USA.; Khalaf SM; Pediatrics Department, Assiut University, Assiut, Egypt.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Sedaghat A; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Shariati G; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.; Issa M; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.; Elbendary HM; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Brown G; Oxford Medical Genetics Laboratories, The Churchill Hospital, Oxford, OX3 7LJ, UK.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Gleeson JJ; Department of Neurosciences, University of California, San Diego, La Jolla, California, 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, California, 92025, USA.; Carroll CJ; Genetics Section, Molecular and Clinical Sciences, St George's, University of London, London, UK.; Cowan JA; Department of Chemistry and Biochemistry, The Ohio State University, 100 West 18th Avenue, Columbus, Ohio, 43210, USA.; Moreno-De-Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, 17822, USA.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE