Amanda Gerard

Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 122 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Molecular Neuroscience +7

KDM5A mutations identified in autism spectrum disorder using forward genetics

Lauretta El Hayek, İslam Oğuz Tuncay, Nadine Nijem et al. · eLife · 2020 · 58 citations · Full text

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews et al. · Cell Reports · 2022 · 51 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Syndromic Autism +10

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang et al. · The American Journal of Human Genetics · 2023 · 42 citations · Full text

Neurodegenerative Diseases, Developmental Biology, Mendelian Disorder +10

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

Mathilde Nizon, Vincent Laugel, Kevin M. Flanigan et al. · Genetics in Medicine · 2019 · 40 citations · Full text

Transcriptional Regulation, Mendelian Disorder, Mediator Kinase Module +9