PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene

por Pastore, Stephen F., Ko, Sangyoon Y., Frankland, Paul W., Hamel, Paul A., Vincent, John B.
Publicado 2022

Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence

por Pastore, Stephen F., Muhammad, Tahir, Stan, Cassandra, Frankland, Paul W., Hamel, Paul A., Vincent, John B.
Publicado 2023

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

por Pastore, Stephen F., Muhammad, Tahir, Harripaul, Ricardo, Lau, Rebecca, Khan, Muhammad Tariq Masood, Khan, Muhammad Ismail, Islam, Omar, Kang, Changsoo, Ayub, Muhammad, Jelani, Musharraf, Vincent, John B.
Publicado 2021