Francisca Millan

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1K citations · Full text

Bioinformatics, Long-read Sequencing, Whole-exome Sequencing +9

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari et al. · Nature Genetics · 2020 · 170 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi Tanaka, Megan T. Cho, Francisca Millan et al. · The American Journal of Human Genetics · 2015 · 158 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Spata5 Are Associated +8

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Emma Tham, Anna Lindstrand, Avni Santani et al. · The American Journal of Human Genetics · 2015 · 140 citations · Full text

Recognizable Syndromic Features, Developmental Biology, Mendelian Disorder +6

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta et al. · JAMA · 2021 · 119 citations · Full text