Guillermo Lay‐Son

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Dianalee McKnight, Ana Morales, Kathryn E. Hatchell et al. · JAMA Neurology · 2022 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Axenfeld-Rieger syndrome: more than meets the eye

Linda M. Reis, Mohit Maheshwari, Jenina Capasso et al. · Journal of Medical Genetics · 2022 · 78 citations · Full text

Medicine, Genetics, Ophthalmology +17

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

Gabriela M. Repetto, Maria Guzman, Iris Delgado et al. · BMJ Open · 2014 · 60 citations · Full text

Life Sciences, Genetics, Pediatrics +17

BRCA1 and BRCA2 mutations in a South American population

Lilian Jara, Sandra Ampuero, Eudocia Santibáñez et al. · Cancer Genetics and Cytogenetics · 2006 · 60 citations

Life Sciences, Genetics, Oncology +14

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

Luis León, Felipe Benavides, Karena Espinoza et al. · Scientific Reports · 2017 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17