Marlène Rio

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

Jeanne Amiel, Marlène Rio, Loïc de Pontual et al. · The American Journal of Human Genetics · 2007 · 319 citations · Full text

Autonomic Dysfunction, Genetic Disorder, Genetics +8

Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men*

Jean Gekas, F. Thépot, C Turleau et al. · Human Reproduction · 2001 · 295 citations

Family Medicine, Chromosomal Factors, Fertility +25

Key clinical features to identify girls with CDKL5 mutations

Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas et al. · Brain · 2008 · 285 citations

Cdkl5-associated Encephalopathy, Developmental Anomaly, Mendelian Disorder +12

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Caroline Nava, Nadine Hanna, Caroline Michot et al. · Journal of Medical Genetics · 2007 · 253 citations · Full text