Lucie Dupuis

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

NSD1 mutations generate a genome-wide DNA methylation signature

Sanaa Choufani, Cheryl Cytrynbaum, Brian Hon‐Yin Chung et al. · Nature Communications · 2015 · 206 citations · Full text

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky et al. · The American Journal of Human Genetics · 2017 · 202 citations · Full text

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2018 · 181 citations · Full text

Signal Transduction, Signaling Pathway, Cell Regulation +5

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen et al. · Nature Genetics · 2014 · 178 citations · Full text

Centriole Biogenesis, Ocular Disease, Developmental Biology +8