Jennifer McEvoy‐Venneri

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

Martin W. Breuss, Danny Antaki, Renee D. George et al. · Nature Medicine · 2019 · 107 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen et al. · European Journal of Human Genetics · 2018 · 69 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Somatic mosaicism reveals clonal distributions of neocortical development

Martin W. Breuss, Xiaoxu Yang, Johannes C. M. Schlachetzki et al. · Nature · 2022 · 63 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +14

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht et al. · Human Genetics · 2018 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

Cristiana Pelorosso, Françoise Watrin, Valerio Conti et al. · Human Molecular Genetics · 2019 · 62 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17