Célia Bádenas

Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides

Xavier Estivill, Nancy Govea, Anna Barceló et al. · The American Journal of Human Genetics · 1998 · 547 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +12

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Corine Bertolotto, Fabienne Lesueur, Sandy Giuliano et al. · Nature · 2011 · 513 citations

Somatic Variant, Genetics, Melanoma +7

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

Laia Rodríguez‐Revenga, Irene Madrigal, Javier Pagonabarraga et al. · European Journal of Human Genetics · 2009 · 316 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

TERT Promoter Mutation Status as an Independent Prognostic Factor in Cutaneous Melanoma

Klaus Griewank, Rajmohan Murali, Joan Anton Puig‐Butillé et al. · JNCI Journal of the National Cancer Institute · 2014 · 251 citations · Full text

Benefits of total body photography and digital dermatoscopy (“two-step method of digital follow-up”) in the early diagnosis of melanoma in patients at high risk for melanoma

Gabriel Salerni, Cristina Carrera, Louise Lovatto et al. · Journal of the American Academy of Dermatology · 2011 · 224 citations · Full text

Dermoscopic Image, Early Diagnosis, Skin Cancer +8