Teresa Santiago‐Sim

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

Medicine, Genetics, Pediatrics +14

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan, Juanita Neira, Davut Pehli̇van et al. · Genetics in Medicine · 2018 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy

Philip K. Ahring, Vivian W. Y. Liao, Elena Gardella et al. · Brain · 2021 · 74 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Teresa Santiago‐Sim, Lindsay C. Burrage, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15