Associated Papers
Whole Exome Sequencing Helps Diagnose Familial Anophthalmia in Zimbabwe: A Call from the Field to Fund Clinical Genomics for Planetary Health.
Mabizela N et al.
Omics : a Journal of Integrative Biology, 2025
A novel frameshift variant in BCOR causes congenital nuclear cataract.
Berry V et al.
Ophthalmic Genetics, 2024
Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals.
McConville BM et al.
Biorxiv : the Preprint Server for Biology, 2024
Aging and comprehensive molecular profiling in acute myeloid leukemia.
Li JF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Polycomb Repressive Complex 1.1 Component, BCOR, Promotes Syncytiotrophoblast Differentiation in Mice and Humans.
Sadowski D et al.
Biorxiv : the Preprint Server for Biology, 2024
Oculo-facio-cardio-dental (OFCD) syndrome: a case report.
Nguyen TT et al.
Journal of Medical Case Reports, 2024
X-linked BCOR variants identified in Chinese Han patients with congenital heart disease.
Suo MJ et al.
The Journal of Gene Medicine, 2023
A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.
Hu Q et al.
Bmc Pediatrics, 2022
Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.
Zhuang J et al.
Frontiers in Genetics, 2022
A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia.
Schwaibold EMC et al.
Clinical Genetics, 2021
X-linked BCOR-related syndrome in two male siblings.
Archer NE et al.
Clinical Dysmorphology, 2021
OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR.
Hamline MY et al.
Developmental Biology, 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Ragge N et al.
Human Genetics, 2019
Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome.
Morgan TM et al.
Case Reports in Genetics, 2019
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
Kraus C et al.
American Journal of Medical Genetics. Part A, 2018
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R et al.
Human Genetics, 2018
Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
Nolan D et al.
Journal of Child Neurology, 2016
Prenatal Diagnosis of DNA Copy Number Variations by Genomic Single-Nucleotide Polymorphism Array in Fetuses with Congenital Heart Defects.
Tang S et al.
Fetal Diagnosis and Therapy, 2016
Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.
Zhu X et al.
Gene, 2015
Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.
Surapornsawasd T et al.
Journal of Human Genetics, 2014
Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.
Suzumori N et al.
The Journal of Obstetrics and Gynaecology Research, 2013
Eye development genes and known syndromes.
Slavotinek AM
Molecular Genetics and Metabolism, 2011
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton E et al.
European Journal of Human Genetics : Ejhg, 2009
Role of the transcriptional corepressor Bcor in embryonic stem cell differentiation and early embryonic development.
Wamstad JA et al.
Plos One, 2008
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.
Hilton EN et al.
Human Molecular Genetics, 2007
A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.
Slavotinek A et al.
American Journal of Medical Genetics. Part A, 2005
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
Horn D et al.
European Journal of Human Genetics : Ejhg, 2005
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
Ng D et al.
Nature Genetics, 2004