Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort.
Weller K et al.
Prenatal Diagnosis, 2024
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element.
Replogle MR et al.
Human Mutation, 2024
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Caron V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia.
Trieschmann G et al.
European Journal of Medical Genetics, 2023
Anophthalmia including next-generation sequencing-based approaches.
Harding P et al.
European Journal of Human Genetics : Ejhg, 2020
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.
Nedelec B et al.
Human Genetics, 2019
Recessive gene disruptions in autism spectrum disorder.
Doan RN et al.
Nature Genetics, 2019
Retinoic acid receptor beta variant-related colonic hypoganglionosis.
Foster KJ et al.
American Journal of Medical Genetics. Part A, 2019
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Srour M et al.
Human Mutation, 2016
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Slavotinek AM et al.
Clinical Genetics, 2015
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
Srour M et al.
American Journal of Human Genetics, 2013