Alain Verloès

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi et al. · Nature Genetics · 2001 · 974 citations

Transcriptional Regulation, Developmental Biology, Genetic Disorder +7

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 593 citations

Mendelian Disorder, Genetic Disorder, Germline Kras +4

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad et al. · The American Journal of Human Genetics · 2001 · 376 citations · Full text

Eec Syndrome, Developmental Biology, Genetic Disorder +8

Updated diagnostic criteria for CHARGE syndrome: A proposal

Alain Verloès · American Journal of Medical Genetics Part A · 2005 · 374 citations · Full text

Developmental Anomaly, Rhombencephalic Anomalies, Genital Anomalies +12

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 364 citations · Full text

Restrictive Dermopathy, Genetics, Nuclear Lamina +17