ArticleAmerican journal of medical genetics. Part A2021
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
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Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10citing papers in PubMed
–field-weighted citation impact
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The trial behind it
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Who cites it
10 citing papers in PubMed.
- Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies.World journal of pediatrics : WJP · 2026Review
- A regulatory circuit operated by KDELR1 and KDELR3 fine-tunes the composition of the early secretory pathway.Cellular and molecular life sciences : CMLS · 2026Article
- Pediatric Scoliosis in Osteogenesis Imperfecta: From Genetic Mechanisms to Therapeutic Strategies.Orthopaedic surgery · 2025Review
- Update on the Genetics of Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.Cellular and molecular life sciences : CMLS · 2024Article
- Computational identification of disease models through cross-species phenotype comparison.Disease models & mechanisms · 2024Article
- Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.World journal of clinical cases · 2023Review
- KDEL Receptors: Pathophysiological Functions, Therapeutic Options, and Biotechnological Opportunities.Biomedicines · 2022Review
- Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.American journal of medical genetics. Part A · 2021Article
- Disease-Associated Factors at the Endoplasmic Reticulum-Golgi Interface.Traffic (Copenhagen, Denmark)Review
Corrections and comments
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Authors and funding
22 authors.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0003-4900-9877
Isabella HermanSection of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0002-7359-6832
Fatima RahmanDevelopment and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.ORCID 0000-0003-1312-1007
Najwa AnwarDevelopment and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
Reza MaroofianDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Janice YipDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Tadahiro MitaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Daniel G CalameSection of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0001-6860-372X
Jill V HunterDivision of Neuroradiology, Edward B. Singleton Department of Radiology, Texas Children's Hospital, Houston, Texas, USA.
V Reid SuttonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Elif Yilmaz GulecDepartment of Medical Genetics, Health Sciences University, Istanbul Kanuni Sultan Suleyman Research and Training Hospital, Istanbul, Turkey.
Ruizhi DuanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0003-0401-1877
Jawid M FatihDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Dana MarafiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0003-2233-3423
Davut PehlivanSection of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Shalini N JhangianiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0002-1356-5698
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0003-4814-6765
SYNAPS Study GroupDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Shazia MaqboolDevelopment and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0001-9907-9246
Henry HouldenDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MMEDICAL 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
$6.0MMutidisciplinary Training;Brain Disorders &DevelopmentT32NS043124 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI SWANN, JOHN WILLIAM · 2002 to 2021
$4.6MIndividual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831kHIGH SENSITIVITY PEPTIDE SEQUENCING BY CE/MS AND CE/MS-MR01HG000327 · NHGRI · BATTELLE PACIFIC NORTHWEST LABORATORIES · PI EDMONDS, CHARLES G. · 1990 to 1990
–Medical Research Council G0601943Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1NHGRI NIH HHS K08 HG008986NHGRI NIH HHS U54HG00327NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG006542NIGMS NIH HHS T32 GM007526NIH Clinical Center T32 GM007526-42NIH Clinical Center T32 NS043124-17NINDS NIH HHS R35 NS105078NINDS NIH HHS R35NS105078NINDS NIH HHS T32 NS043124Wellcome TrustWellcome Trust WT093205 MAWellcome Trust WT104033AIA
Abstract
PubMed holds no abstract for this paper.
Indexed as
Genetic Predisposition to DiseaseAllelesChildChild, PreschoolFemaleHumansMaleMutation, MissenseNeurodevelopmental DisordersOsteogenesis ImperfectaVesicular Transport ProteinsKDELR2 protein, humanVesicular Transport Proteins
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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.