Melanie P. Napier

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Theodore G. Drivas, Dong Li, Divya Nair et al. · European Journal of Human Genetics · 2020 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Novel findings and expansion of phenotype in a mosaic <scp>RASopathy</scp> caused by somatic <scp><i>KRAS</i></scp> variants

Caitlin A. Chang, Renée Perrier, Kyle C. Kurek et al. · American Journal of Medical Genetics Part A · 2021 · 39 citations

Medicine, Oncology, Pathology +17

BCL11B-related disorder in two canadian children: Expanding the clinical phenotype

Madhavi Prasad, C. Prasad, Joseph Andrews et al. · European Journal of Medical Genetics · 2020 · 29 citations

Life Sciences, Genetics, Pediatrics +12

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano et al. · The American Journal of Human Genetics · 2022 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

Cosima M. Schmid, Anne Gregor, Gregory Costain et al. · Genetics in Medicine · 2023 · 19 citations · Full text

Medicine, Genetics, Molecular Genetics +14