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Proceedings of the National Academy of Sciences of the United States of America|April 14, 2026
Podocin oligomers regulate the ordering of nephrin chains, providing the molecular basis of NPHS2 interallelic interactionsVioletta Antal-Kónya, Gusztáv Schay, Máté Kétszeri, et al.
European Journal of Human Genetics : EJHG|April 17, 2025
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion SyndromeClaire E Green, Shadi Albaba, Glenda J Sobey, et al.
Human Mutation|July 29, 2022
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorderBeau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, et al.
European Journal of Human Genetics : EJHG|December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal studyClaire Forde, Emma Burkitt-Wright, Peter D Turnpenny, et al.
Human Molecular Genetics|March 21, 2020
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndromeReham Alharatani, Athina Ververi, Ana Beleza-Meireles, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
Human Mutation|December 21, 2012
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsDinu Antony, Anita Becker-Heck, Maimoona A Zariwala, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
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