Claudia Soler‐Alfonso

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

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer et al. · The American Journal of Human Genetics · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive

Claudia Soler‐Alfonso, Kathleen J. Motil, Catherine L. Turk et al. · The Journal of Pediatrics · 2010 · 50 citations

Health Professions, Neurology, Otolaryngology +13

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

Claudia Soler‐Alfonso, Claudia M.B. Carvalho, Jun Ge et al. · European Journal of Human Genetics · 2014 · 45 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism

Claudia Soler‐Alfonso, Gregory M. Enns, Mary Kay Koenig et al. · Pediatric Neurology · 2014 · 33 citations

Life Sciences, Genetics, Molecular Genetics +11