Patricia Fergelot

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

Low CAIX expression and absence of VHL gene mutation are associated with tumor aggressiveness and poor survival of clear cell renal cell carcinoma

Jean‐Jacques Patard, Patricia Fergelot, Pierre I. Karakiewicz et al. · International Journal of Cancer · 2008 · 184 citations · Full text

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

Paquita Nurden, Najet Debili, Isabelle Coupry et al. · Blood · 2011 · 162 citations · Full text

Prognostic Value of Thrombocytosis in Renal Cell Carcinoma

Karim Bensalah, Emmanuelle Leray, Patricia Fergelot et al. · The Journal of Urology · 2006 · 136 citations

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations