ArticlemedRxiv : the preprint server for health sciences2024
Biallelic variation in the choline and ethanolamine transporter
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Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
63 authors.
Daniel G CalameSection of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6860-372X
Jovi Huixin WongDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.
Puravi PandaDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.
Dat Tuan NguyenDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.
Nancy C P LeongDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.
Riccardo SangermanoOcular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Sohil G PatankarOcular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Mohamed Abdel-HamidMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Lama AlAbdiDepartment of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.
Sylvia SafwatDepartment of Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Kyle P FlanneryDepartment of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, NY, USA.
Zain DardasDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Jawid M FatihDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Chaya MuraliDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Varun KannanSection of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Timothy E LotzeSection of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Isabella HermanSection of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Farah AmmouriBoys Town National Research Hospital, Boys Town, NE, USA.
Brianna RezichMunroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
Stephanie EfthymiouDepartment of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.
Shahryar AlaviDepartment of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.
David MurphyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom.
Zahra FiroozfarPalindrome, Isfahan, Iran.
Mahya Ebrahimi NasabMeybod Genetic Research Center, Yazd, Iran.
Amir BahreiniKaryoGen, Isfahan, Iran.
Majid GhasemiDepartment of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.
Nourelhoda A HaridyDepartment of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.
Hamid Reza GoldouziDepartment of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Fatemeh EghbalDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Ehsan Ghayoor KarimianiMolecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace London, London, UK.
Varunvenkat M SrinivasanDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Vykuntaraju K GowdaDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Haowei DuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Zeynep Coban-AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Dana MarafiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Lance RodanDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Sedat IsikayGaziantep Islam Science and Technology University, Medical Faculty, Department of Pediatric Neurology, Gaziantep, Turkey.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Subhadra RamanathanDivision of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.
Michael StatonDivision of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.
Kerby C ObergDepartment of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA.
Robin D ClarkDivision of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.
Catharina WenmanRare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK.
Sam LoughlinRare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK.
Ramy SaadNorth East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Tazeen AshrafNorth East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Alison MaleNorth East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Shereen TadrosNorth East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Reza BoostaniDepartment of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.
Ghada M H Abdel-SalamDepartment of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Maha ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Ebtesam AbdallaDepartment of Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
M Chiara ManziniDepartment of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, NY, USA.
Davut PehlivanSection of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-7175-1096
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Henry HouldenDepartment of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.
Fowzan S AlkurayaDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Kinga BujakowskaOcular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Reza MaroofianDepartment of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.
James R LupskiTexas Children's Hospital, Houston, TX, USA.ORCID 0000-0001-9907-9246
Long Nam NguyenDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.ORCID 0000-0002-9857-2239
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MP30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1MUniversity of Washington (UW) Mendelian Genomics Data Coordinating CenterU24HG011746 · NHGRI · UNIVERSITY OF WASHINGTON · PI Susanne May, ALI SHOJAIE · 2021 to 2026
$14.8MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MFrequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8MMEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MComprehensive Deep Phenotyping and Multi-omics to Develop Clinical and Molecular Biomarkers for MeCP2-related DiseasesK23NS125126 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI Davut Pehlivan · 2022 to 2026
$1.1MNEI NIH HHS P30 EY014104NHGRI NIH HHS U01 HG011758NHGRI NIH HHS U24 HG011746NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG006542NIGMS NIH HHS T32 GM007526NINDS NIH HHS K23 NS125126NINDS NIH HHS R35 NS105078
Abstract
PubMed holds no abstract for this paper.
Indexed as
cholineDiamond-Blackfan anemiaethanolamineFLVCR1multiple congenital anomaliesneurodegenerationneurodevelopmental disorders
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.