Erica L. Macke

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Impact of integrated translational research on clinical exome sequencing

Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo et al. · Genetics in Medicine · 2020 · 65 citations · Full text

Life Sciences, Genetics, Translational Sciences +16

Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

Wei‐Hua Lee, Hitoshi Higuchi, Sakae Ikeda et al. · eLife · 2016 · 56 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella et al. · Genetics in Medicine · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Lindsey D. Goodman, Heidi Cope, Zelha Nil et al. · The American Journal of Human Genetics · 2021 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13