Laura Mary

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

Ekaterina Ivanova, Frédéric Tran Mau‐Them, Saima Riazuddin et al. · The American Journal of Human Genetics · 2017 · 51 citations · Full text

Developmental Biology, Mendelian Disorder, Brain Development +7

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

Laura Mary, Kirsley Chennen, Corinne Stoetzel et al. · Clinical Genetics · 2019 · 48 citations

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

Élise Schaefer, Clarisse Delvallée, Laura Mary et al. · Frontiers in Genetics · 2019 · 37 citations · Full text

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Laura Mary, Amélie Piton, Élise Schaefer et al. · European Journal of Human Genetics · 2018 · 27 citations · Full text

Engineering, Genetic Disorder, Medicine +11

Genetic kinship and admixture in Iron Age Scytho-Siberians

Laura Mary, Vincent Zvénigorosky, Alexey Kovalev et al. · Human Genetics · 2019 · 19 citations

Kin Recognition, Medicine, Genetics +7