GeneDX

Industry / private company


Location: Gaithersburg, MD, United States (USA) (US) US

ISNI: 0000000404092707

ROR: https://ror.org/02pbsj156

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation (2018) Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, et al. Journal article Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al. Journal article Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly (2017) Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, et al. Journal article STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability (2017) Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, et al. Journal article
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