Associated Papers
FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma.
Presley W et al.
Investigative Ophthalmology & Visual Science, 2025
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia.
Pendleton KE et al.
Journal of Pediatric Genetics, 2024
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
Del Viso F et al.
American Journal of Medical Genetics. Part A, 2023
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Snijders Blok L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Qiao L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32719394 (PubMed )
Supplement: NIHMS1619686-supplement-Supplementary_tables.xlsx › Table_S3
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H et al.
Plos Genetics, 2018
30532227 (PubMed )
Supplement: pgen.1007822.s011.xlsx › CodingDNM
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.
Longoni M et al.
Human Genetics, 2017
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