Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Steele JL et al.
Pediatric Neurology, 2022
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable2_NotReported
A case of familial glomuvenous malformation with report of a novel genetic mutation.
Esteves M et al.
International Journal of Dermatology, 2020
Loss of heterozygosity in a case of glomuvenous malformations.
Ohata C et al.
The Journal of Dermatology, 2015
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
Brouillard P et al.
Journal of Medical Genetics, 2005
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