Associated Papers
EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.
Bulmer L et al.
European Journal of Human Genetics : Ejhg, 2025
40065010 (PubMed )
Supplement: 41431_2025_1827_MOESM1_ESM.pdf
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R et al.
American Journal of Human Genetics, 2024
38815585 (PubMed )
Supplement: mmc3.pdf
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.
Shen Y et al.
Frontiers in Genetics, 2022
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI et al.
Annals of Clinical and Translational Neurology, 2020
RNase H1 promotes replication fork progression through oppositely transcribed regions of Drosophila mitochondrial DNA.
González de Cózar JM et al.
The Journal of Biological Chemistry, 2019
30635398 (PubMed )
Supplement: supp_RA118.007015_142391_1_supp_265299_pl2dlv.pdf
Analysis of FOXO1 mutations in diffuse large B-cell lymphoma.
Trinh DL et al.
Blood, 2013
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