Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

Autor: Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: Daniel.calame@bcm.edu., Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., 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 Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia; 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, USA., Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ, USA., Dardas Z; 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., Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Boys Town National Research Hospital, Boys Town, NE, USA., Ammouri F; Boys Town National Research Hospital, Boys Town, NE, USA; The University of Kansas Health System, Westwood, KS, USA., Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA., Efthymiou S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Alavi S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., 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, USA., 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, Cranmer Terrace London, London, UK., Begtrup A; GeneDx, Gaithersburg MD 20877 USA., Elloumi H; GeneDx, Gaithersburg MD 20877 USA., 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, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 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, The University of Texas Health Science Center at Houston, 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, Kuwait., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., 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, USA; Baylor Genetics Laboratories, Houston, TX, USA., Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Oberg KC; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA., Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK., Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK., Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., 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, USA., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; 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., Houlden H; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., 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, WC1N 3BG, London, UK., Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.edu., Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore 117456; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore 117456; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117545; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117456. Electronic address: bchnnl@nus.edu.sg.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 19, pp. 101273. Date of Electronic Publication: 2024 Sep 19.

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.

Autor: Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., 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 M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Safwat S; Department of Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, NY, USA., Dardas Z; 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., Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Boys Town National Research Hospital, Boys Town, NE, USA., Ammouri F; Boys Town National Research Hospital, Boys Town, NE, USA.; The University of Kansas Health System, Westwood, KS, USA., Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA., Efthymiou S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Alavi S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., 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, USA., 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, Cranmer Terrace London, London, UK., 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, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 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, The University of Texas Health Science Center at Houston, 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, Kuwait., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., 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, USA.; Baylor Genetics Laboratories, Houston, TX, USA., Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Kerby C Oberg; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA., Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK., Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK., Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., 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., Abdalla E; Department of 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, NY, USA., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; 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., Houlden H; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., 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, WC1N 3BG, London, UK., Lupski JR; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore 117456.; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore 117456.; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117545.; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117456.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 13. Date of Electronic Publication: 2024 Feb 13.

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.

Autor: Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gulec EY; Department of Medical Genetics, School of Medicine, Istanbul Medeniyet University, Istanbul, Turkey., Eker HK; Department of Medical Genetics, Konya City Hospital, Konya, Turkey., Costa SR; Human Genome and Stem Cell Research Center, Institute of Bioscience, Universidade de São Paulo, São Paulo, Brazil., Sahin Y; Medical Genetics, Genoks Genetics Center, Ankara, Turkey., Ocak Z; Department of Medical Genetics, Faculty of Medicine, Istinye University, Istanbul, Turkey., Isikay S; Department of Pediatric Neurology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey., Ozalp O; Department of Medical Genetics, Adana City Training and Research Hospital, Adana, Turkey., Bozdogan S; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey., Aslan H; Department of Medical Genetics, Adana City Training and Research Hospital, Adana, Turkey., Elcioglu N; Department of Pediatric Genetics, School of Medicine, Marmara University, Istanbul, Turkey.; Eastern Mediterranean University Medical School, Magosa, 10 Mersin, Turkey., Bertola DR; Human Genome and Stem Cell Research Center, Institute of Bioscience, Universidade de São Paulo, São Paulo, Brazil.; Genetics Unit, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey., Du H; 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., Grochowski CM; 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., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, 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., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Pehlivan D; 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.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, 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., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

Publikováno v: HGG advances [HGG Adv] 2022 Aug 04; Vol. 3 (4), pp. 100132. Date of Electronic Publication: 2022 Aug 04 (Print Publication: 2022).

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

Autor: Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Isikay S; Department of Pediatric Neurology, Faculty of Medicine, University of Gaziantep, Gaziantep 27310, Turkey., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey., Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey., Punetha J; 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., Herman I; 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 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, 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 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Ayaz A; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey; Departments of Medical Genetics, School of Medicine, Istanbul Medipol University, Istanbul 34810, Turkey., Tos T; University of Health Sciences Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Department of Medical Genetics, Ankara 06080, Turkey., Yesil G; Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul University, Istanbul 34093, Turkey., Aydin H; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Private Reyap Istanbul Hospital, Istanbul 34515, Turkey., Geckinli B; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul 34722, Turkey., Elcioglu N; Department of Pediatric Genetics, School of Medicine, Marmara University, Istanbul 34722, Turkey; Eastern Mediterranean University Medical School, Magosa, Mersin 10, Turkey., Candan S; Medical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey., Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey., Erdem HB; Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara 06110, Turkey., Gul D; Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey., Demiral E; Department of Medical Genetics, School of Medicine, University of Inonu, Malatya 44280, Turkey., Elmas M; Department of Medical Genetics, Afyon Kocatepe University, School of Medicine, Afyon 03218, Turkey., Yesilbas O; Division of Critical Care Medicine, Department of Pediatrics, School of Medicine, Bezmialem Foundation University, Istanbul 34093, Turkey; Department of Pediatrics, Division of Pediatric Critical Care Medicine, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Kilic B; Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Inonu University, Malatya 34218, Turkey., Gungor S; Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Inonu University, Malatya 34218, Turkey., Ceylan AC; Department of Medical Genetics, University of Health Sciences, Ankara Training and Research Hospital, Ankara 06110, Turkey., Bozdogan S; Department of Medical Genetics, Cukurova University Faculty of Medicine, Adana 01330, Turkey., Ozalp O; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey., Cicek S; Department of Medical Genetics, Konya Training and Research Hospital, Konya 42250, Turkey., Aslan H; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey., Yalcintepe S; Department of Medical Genetics, School of Medicine, Trakya University, Edirne 22130, Turkey., Topcu V; Department of Medical Genetics, Ankara City Hospital, Ankara 06800, Turkey., Bayram Y; 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., Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA., Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Duan R; 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., Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Hu J; 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., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Carvalho CMB; 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., Posey JE; Department of Molecular and Human Genetics, 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. Electronic address: jlupski@bcm.edu., 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 77030, USA; 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. Electronic address: pehlivan@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1981-2005. Date of Electronic Publication: 2021 Sep 28.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.