Leveraging AI Advances and Online Tools for Structure-Based Variant Analysis.

Autor: Guzmán-Vega FJ; Bioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.; Computational Bioscience Research Center, KAUST, Thuwal, Saudi Arabia., González-Álvarez AC; Bioengineering Program, Biological and Environmental Science and Engineering Division, KAUST, Thuwal, Saudi Arabia.; Computational Bioscience Research Center, KAUST, Thuwal, Saudi Arabia., Peña-Guerra KA; Bioengineering Program, Biological and Environmental Science and Engineering Division, KAUST, Thuwal, Saudi Arabia.; Computational Bioscience Research Center, KAUST, Thuwal, Saudi Arabia., Cardona-Londoño KJ; Bioengineering Program, Biological and Environmental Science and Engineering Division, KAUST, Thuwal, Saudi Arabia.; Computational Bioscience Research Center, KAUST, Thuwal, Saudi Arabia., Arold ST; Bioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.; Bioengineering Program, Biological and Environmental Science and Engineering Division, KAUST, Thuwal, Saudi Arabia.; Computational Bioscience Research Center, KAUST, Thuwal, Saudi Arabia.; Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, Montpellier, France.

Publikováno v: Current protocols [Curr Protoc] 2023 Aug; Vol. 3 (8), pp. e857.

SPTBN5 , Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.

Autor: Khan A; Faculty of Science, Department of Biological Sciences (Zoology), University of Lakki Marwat, Lakki Marwat, Pakistan.; Medical Genetics, University of Siena, Siena, Italy., Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Alomar F; Department of Pharmacology and Toxicology, College of Clinical Pharmacy, Imam Abdulrahman, Bin Faisal University, Dammam, Saudi Arabia., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Khan AA; Faculty of Science, Department of Chemical Sciences, University of Lakki Marwat, Lakki Marwat, Pakistan., Khan A; Department of Pediatrics, Yale School of Medicine, Yal University, New Heaven, CT, United States., Saima; Department of Biotechnology, Abdul Wali Khan University Mardan, Mardan, Pakistan., Fabbiani A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Zguro K; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Furini S; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Resciniti S; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Peña-Guerra KA; Computational Bioscience Research Center (CBRC), Biological and Environmental Science and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Guzmán-Vega FJ; Computational Bioscience Research Center (CBRC), Biological and Environmental Science and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Arold ST; Computational Bioscience Research Center (CBRC), Biological and Environmental Science and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, Montpellier, France., Ariani F; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Khan SN; Department of Zoology, Kohat University of Science and Technology, Kohat, Pakistan.

Publikováno v: Frontiers in molecular neuroscience [Front Mol Neurosci] 2022 Jun 17; Vol. 15, pp. 877258. Date of Electronic Publication: 2022 Jun 17 (Print Publication: 2022).

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Autor: Weerts MJA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Guzmán-Vega FJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Jackson A; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Ramakrishnan R; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Peña-Guerra KA; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Paassen BW; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kievit A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Allen NM; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland., Kehoe CM; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland., Robinson HK; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Pang L; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Banu SH; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Järvelä I; Department of Medical Genetics, University of Helsinki, Helsinki, Finland., Lauronen L; Department of Clinical Neurophysiology, New Children´s Hospital, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland., Määttä T; Disability Services, Joint Authority for Kainuu, Kajaani, Finland., Schrauwen I; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA., Leal SM; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, London, Bucks, UK., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Sun A; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Thies J; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Pedroza LA; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA., Lara-Taranchenko Y; Universidad San Francisco de Quito, Colegio de ciencias de la salud-Hospital de los Valles, Quito, Ecuador., Chinn IK; Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA., Garza-Flores A; Cook Children's Genetics, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA., McGlothlin J; Cook Children's Neurosciences, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA., Yang L; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China., Huang S; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China., Wang X; Cipher Gene Ltd, Beijing, China., Jewett T; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Rosso G; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Lin X; Pediatrics Department, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China., Mohammed S; Clinical Genetics, Guy's and St Thomas NHS Foundation Trust, London, UK., Merritt JL 2nd; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Mirzaa GM; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Scheck J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Elting MW; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Polstra AM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Schenck L; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA., Ruzhnikov MRZ; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA.; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA, USA., Vetro A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Montomoli M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Koboldt DC; Nationwide Children's Hospital, Columbus, OH, USA., Mosher TM; Nationwide Children's Hospital, Columbus, OH, USA., Pastore MT; Nationwide Children's Hospital, Columbus, OH, USA., McBride KL; Nationwide Children's Hospital, Columbus, OH, USA., Peng J; Xiangya Hospital of Central South University, Changsha, China., Pan Z; Xiangya Hospital of Central South University, Changsha, China., Willemsen M; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Koning S; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Turnpenny PD; Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK., de Vries BBA; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Lees M; NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Braddock SR; Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO, USA., Klemp KC; Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO, USA., Vansenne F; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands., van Gijn ME; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands., Quindipan C; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA., Deardorff MA; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Departments of Pathology and Pediatrics, Keck School of Medicine of the, University of Southern California, Los Angeles, CA, USA., Hamm JA; East Tennessee Children's Hospital Genetics Center, Knoxville, TN, USA., Putnam AM; East Tennessee Children's Hospital Genetics Center, Knoxville, TN, USA., Baud R; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Walsh L; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Department of Neurology, Indiana University School of Medicine and Riley Hospital for Children, Indianapolis, IN, USA., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Temple St. Children's Hospital and Our Lady's Children's Hospital, Crumlin, Dublin, Ireland., Baptista J; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Person RE; GeneDx, Gaithersburg, MD, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Crunk A; GeneDx, Gaithersburg, MD, USA., Keller-Ramey J; GeneDx, Gaithersburg, MD, USA., Reich A; GeneDx, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., Alders M; Amsterdam UMC, Department of Clinical Genetics, Amsterdam Reproduction & Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands., Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada., McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada., Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Banka S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2122-2137. Date of Electronic Publication: 2021 Aug 03.