ArticleJournal of medical genetics2016
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
Abstract read
In one paragraph
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
3.5field-weighted citation impact, top 7% of its field
What it found
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Who cites it
28 citing papers in PubMed, 51 citations in OpenAlex.
- Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies.World journal of pediatrics : WJP · 2026Review
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- Basilar invagination in osteogenesis imperfecta-Case report.Radiology case reports · 2025Article
- Comprehensive Review of Osteogenesis Imperfecta: Current Treatments and Future Innovations.Human gene therapy · 2025Review
- Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta.JBMR plus · 2024Article
- A novel mutation in intron 1 of Wnt1 causes developmental loss of dopaminergic neurons in midbrain and ASD-like behaviors in rats.Molecular psychiatry · 2023Article
- Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in theMolecular syndromology · 2023Article
- Type XV osteogenesis imperfecta: A novel mutation in theIntractable & rare diseases research · 2023Article
- Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.Endocrine reviews · 2022Review
- Metabolism and Endocrine Disorders: What Wnt Wrong?Frontiers in endocrinology · 2022Review
- Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of theFrontiers in endocrinology · 2022Article
- The role of WNT1 mutant variant (WNT1Annals of human genetics · 2020Article
- The Joubert Syndrome Gene arl13b is Critical for Early Cerebellar Development in Zebrafish.Neuroscience bulletin · 2020Article
- Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia.Molecular genetics & genomic medicine · 2020Article
- Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.Frontiers in genetics · 2020Article
- The Regulation of Bone Metabolism and Disorders by Wnt Signaling.International journal of molecular sciences · 2019Review
- Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.American journal of human genetics · 2019Article
- Redefining the Etiologic Landscape of Cerebellar Malformations.American journal of human genetics · 2019Article
- De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.American journal of human genetics · 2019Article
- WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts.Journal of human genetics · 2019Article
Corrections and comments
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Authors and funding
9 authors at 7 institutions in 4 countries.
Kimberly A AldingerCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Nancy J MendelsohnMedical Genetics Division, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, USA Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
Brian Hy ChungDepartment of Paediatrics and Adolescent Medicine, Department of Obstetrics and Gynaecology, Centre for Genomic Sciences, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
Wenjuan ZhangDepartment of Molecular, Cell and Developmental Biology, Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, California, USA.
Daniel H CohnDepartment of Molecular, Cell and Developmental Biology, Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, California, USA.
Bridget FernandezDisciplines of Genetics and Medicine, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
Fowzan S AlkurayaDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
William B DobynsCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA Department of Pediatrics, University of Washington, Seattle, Washington, USA Department of Neurology, University of Washington, Seattle, Washington, USA.
Cynthia J CurryDepartment of Pediatrics, University of California, San Francisco, San Francisco, California, USA Genetic Medicine Central California, Fresno, California, USA.
University of California, Los Angeles · USKing Faisal Specialist Hospital & Research Centre · SAMemorial University of Newfoundland · CAUniversity of California, San Francisco · USUniversity of Hong Kong · HKUniversity of Minnesota · USUniversity of Washington · US
Funding
Project 3: Collagen post-translational modification and cross-linking in OIP01HD070394 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI LEE, BRENDAN · 2011 to 2020
$13.4MThe Genetic Basis of Mid-Hindbrain MalformationsR01NS050375 · NINDS · UNIVERSITY OF MINNESOTA · PI DOBYNS, WILLIAM B. · 2005 to 2019
$9.9MShort-rib polydactyly and the skeletal ciliopathiesR01DE019567 · NIDCR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COHN, DANIEL H, KRAKOW, DEBORAH · 2009 to 2019
$3.5MMegalencephaly and segmental brain overgrowth in humansR01NS092772 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MILLEN, KATHLEEN JOYCE · 2015 to 2019
$3.3MExome sequencing in the skeletal dysplasiasR01AR062651 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COHN, DANIEL H · 2013 to 2017
$1.7MNIAMS NIH HHS R01 AR062651NICHD NIH HHS P01 HD070394NIDCR NIH HHS R01 DE019567NINDS NIH HHS R01 NS050375NINDS NIH HHS R01 NS092772
Abstract
PubMed holds no abstract for this paper.
Indexed as
MutationBrainBrain StemCerebellumDevelopmental DisabilitiesFemaleGenetic Predisposition to DiseaseHumansMagnetic Resonance ImagingMaleNervous System DiseasesOsteogenesis ImperfectaPhenotypeWnt1 ProteinWnt1 ProteinDevelopmentalGeneticsNeurology
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
None linked
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.