Tomi L. Toler

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

Dustin Baldridge, Jennifer Heeley, Marisa Vineyard et al. · Genetics in Medicine · 2017 · 119 citations · Full text

Bioinformatics, Mendelian Disorder, Medical Genetics Expertise +11

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Elodie Sanchez, Béryl Laplace-Builhe, Frédéric Tran Mau‐Them et al. · Genetics in Medicine · 2019 · 91 citations · Full text

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai et al. · Genetics in Medicine · 2021 · 79 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Medicine +13

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

Jennifer Bain, Megan T. Cho, Aida Telegrafi et al. · The American Journal of Human Genetics · 2016 · 70 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Brain Development +10

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri et al. · Molecular Psychiatry · 2013 · 66 citations · Full text

Mbd5 Contributes, Psychiatry, Neurodevelopmental Abnormalities +9