Luiza Ramos

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Konrad Platzer, Heinrich Sticht, Stacey L. Edwards et al. · The American Journal of Human Genetics · 2019 · 75 citations · Full text

Allelic Variant, Variable Brain Anomalies, Genetic Disorder +9

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Nicolas Chatron, Felicitas Becker, Heba Morsy et al. · Brain · 2020 · 31 citations · Full text

GIGYF1 disruption associates with autism and impaired IGF-1R signaling

Guodong Chen, Bin Yu, Senwei Tan et al. · Journal of Clinical Investigation · 2022 · 28 citations · Full text

Brain Development, Genetics, Disease Gene Identification +17

Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications

Ashish R. Deshwar, Cheryl Cytrynbaum, Harsha Murthy et al. · Brain · 2022 · 28 citations · Full text

Brain Development, Neurological Disorder, Genetics +18