Sophie Thomas

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries

Valentina Boeva, Caroline Louis‐Brennetot, Agathe Peltier et al. · Nature Genetics · 2017 · 492 citations · Full text

Neuro-oncology, Lineage Plasticity, Developmental Biology +6

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Sabina Benko, Judy Fantes, Jeanne Amiel et al. · Nature Genetics · 2009 · 433 citations

Sequence Motif, Comparative Genomics, Genetics +10

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene et al. · Nature Genetics · 2011 · 239 citations · Full text

Developmental Anomaly, Mendelian Disorder, Kif7 Mutations +5

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas et al. · The American Journal of Human Genetics · 2007 · 200 citations · Full text

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +7