Miriam Elbracht

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Jan Senderek, Sean M. Garvey, Michael J. B. Krieger et al. · The American Journal of Human Genetics · 2009 · 175 citations · Full text

Rare Diseases, Recurrent Missense Mutation, Mendelian Disorder +9

Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo et al. · Journal of Medical Genetics · 2018 · 164 citations · Full text

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

Gergely Karsai, Florian Kraft, Natja Haag et al. · Journal of Clinical Investigation · 2019 · 127 citations · Full text

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Surabhi Mulchandani, Elizabeth Bhoj, Minjie Luo et al. · Genetics in Medicine · 2015 · 119 citations · Full text

Developmental Anomaly, Chromatin, Infertility +14

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

Sonja Stahl, Sabine Gaetzner, Bettina Brackertz et al. · Human Mutation · 2008 · 112 citations

Genetics, Splice Variant, Pathology +16