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Clinical Genetics|December 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domainLuisa Averdunk, Khalid Al-Thihli, Harald Surowy, et al.
Fetal Diagnosis and Therapy|February 12, 2024
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis ImperfectaLeyli Senturk, Cagri Gulec, Tugba Sarac Sivrikoz, et al.
Human Mutation|October 8, 2009
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signalingMaria Valencia, Pablo Lapunzina, Derek Lim, et al.
Genes, Chromosomes & Cancer|November 11, 2021
Survey of germline variants in cancer-associated genes in young adults with colorectal cancerReger R Mikaeel, Joanne P Young, Yun Li, et al.
Human Mutation|September 15, 2004
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)Robert Hering, Karsten M Strauss, Xiao Tao, et al.
Circulation|April 16, 2026
Targeting Interleukin-8-Mediated Cellular Crosstalk Reverses Hypertrophic Cardiomyopathy and Cardiac Fibrosis in Noonan SyndromeJakob Fell, Mario Pavez-Giani, Fabian Koitka, et al.
American Journal of Human Genetics|April 17, 2007
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutationErsan Kalay, Abdullah Uzumcu, Elmar Krieger, et al.
Circulation|July 7, 2020
Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated CardiomyopathyUlrich Hanses, Mandy Kleinsorge, Lennart Roos, et al.
Cell Reports|July 14, 2024
Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndromeAlexandra Viktoria Busley, Óscar Gutiérrez-Gutiérrez, Elke Hammer, et al.
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