Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects.
Huang H et al.
Frontiers in Pediatrics, 2022
The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients.
Barrus K et al.
American Journal of Medical Genetics. Part A, 2020
Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability.
Rao ACA et al.
European Journal of Medical Genetics, 2020
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Schanze I et al.
American Journal of Human Genetics, 2018
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