The genetic basis of non-syndromic intellectual disability: a review

por Kaufman, Liana, Ayub, Muhammad, Vincent, John B.
Publicado 2010

MeCP2: The Genetic Driver of Rett Syndrome Epigenetics

por Good, Katrina V., Vincent, John B., Ausió, Juan
Publicado 2021

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

por Sheikh, Taimoor I, Mittal, Kirti, Willis, Mary J, Vincent, John B
Publicado 2013

Forest carbon in lowland Papua New Guinea: Local variation and the importance of small trees

por Vincent, John B, Henning, Bridget, Saulei, Simon, Sosanika, Gibson, Weiblen, George D
Publicado 2015

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

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan

por Rabia, Ansa, Harripaul, Ricardo, Mikhailov, Anna, Mahmood, Saqib, Maqbool, Shazia, Vincent, John B., Ayub, Muhammad
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

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

por Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Ali, Nadir, Ali, Ghazanfar, Vincent, John B, Ansar, Muhammad
Publicado 2011

Quantitative leukocyte BDNF promoter methylation analysis in bipolar disorder

por Strauss, John S, Khare, Tarang, De Luca, Vincenzo, Jeremian, Richie, Kennedy, James L, Vincent, John B, Petronis, Arturas
Publicado 2013

Effects of Bitter Melon and a Chromium Propionate Complex on Symptoms of Insulin Resistance and Type 2 Diabetes in Rat Models

por White, Pandora E., Król, Ewelina, Szwengiel, Artur, Tubacka, Małgorzata, Szczepankiewicz, Dawid, Staniek, Halina, Vincent, John B., Krejpcio, Zbigniew
Publicado 2020

Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization

por Sheikh, Taimoor I., Harripaul, Ricardo, Vasli, Nasim, Ghadami, Majid, Santangelo, Susan L., Ayub, Muhammad, Sasanfar, Roksana, Vincent, John B.
Publicado 2021

Exome sequencing identifies novel and known mutations in families with intellectual disability

por Rasheed, Memoona, Khan, Valeed, Harripaul, Ricardo, Siddiqui, Maimoona, Malik, Madiha Amin, Ullah, Zahid, Zahid, Muhammad, Vincent, John B., Ansar, Muhammad
Publicado 2021

Bears habituate to the repeated exposure of a novel stimulus, unmanned aircraft systems

por Ditmer, Mark A, Werden, Leland K, Tanner, Jessie C, Vincent, John B, Callahan, Peggy, Iaizzo, Paul A, Laske, Timothy G, Garshelis, David L
Publicado 2019

Over-Expression of Either MECP2_e1 or MECP2_e2 in Neuronally Differentiated Cells Results in Different Patterns of Gene Expression

por Orlic-Milacic, Marija, Kaufman, Liana, Mikhailov, Anna, Cheung, Aaron Y. L., Mahmood, Huda, Ellis, James, Gianakopoulos, Peter J., Minassian, Berge A., Vincent, John B.
Publicado 2014

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

por Sheikh, Taimoor I., Ausió, Juan, Faghfoury, Hannah, Silver, Josh, Lane, Jane B., Eubanks, James H., MacLeod, Patrick, Percy, Alan K., Vincent, John B.
Publicado 2016

Intraspecific trait variation across elevation predicts a widespread tree species' climate niche and range limits

por Van Nuland, Michael E., Vincent, John B., Ware, Ian M., Mueller, Liam O., Bayliss, Shannon L. J., Beals, Kendall K., Schweitzer, Jennifer A., Bailey, Joseph K.
Publicado 2020

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

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

por Zaki, Maha S., Accogli, Andrea, Mirzaa, Ghayda, Rahman, Fatima, Mohammed, Hiba, Porras-Hurtado, Gloria Liliana, Efthymiou, Stephanie, Maqbool, Shazia, Shukla, Anju, Vincent, John B., Hussain, Abrar, Mir, Asif, Beetz, Christian, Leubauer, Anika, Houlden, Henry, Gleeson, Joseph G., Maroofian, Reza
Publicado 2021

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

por Bernkopf, Marie, Webersinke, Gerald, Tongsook, Chanakan, Koyani, Chintan N., Rafiq, Muhammad A., Ayaz, Muhammad, Müller, Doris, Enzinger, Christian, Aslam, Muhammad, Naeem, Farooq, Schmidt, Kurt, Gruber, Karl, Speicher, Michael R., Malle, Ernst, Macheroux, Peter, Ayub, Muhammad, Vincent, John B., Windpassinger, Christian, Duba, Hans-Christoph
Publicado 2014

Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1

por Xu, Wei, Cohen-Woods, Sarah, Chen, Qian, Noor, Abdul, Knight, Jo, Hosang, Georgina, Parikh, Sagar V, De Luca, Vincenzo, Tozzi, Federica, Muglia, Pierandrea, Forte, Julia, McQuillin, Andrew, Hu, Pingzhao, Gurling, Hugh MD, Kennedy, James L, McGuffin, Peter, Farmer, Anne, Strauss, John, Vincent, John B
Publicado 2014