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Alain Verloès | doi.page

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Alain Verloès

Publications by Year

Research Areas

Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Protein Tyrosine Phosphatases, RNA modifications and cancer

Most-Cited Works

→ The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome(2001)974 cited
→ Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome(2006)598 cited
→ High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
→ p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation(2001)377 cited
→ Updated diagnostic criteria for CHARGE syndrome: A proposal(2005)376 cited
→ Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy(2004)365 cited

→ Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations(2000)

343 cited

→ CHARGE syndrome: an update(2007)327 cited

→ Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification(2005)315 cited

→ De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome(2012)305 cited