Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

por Costain, Gregory, Bassett, Anne S
Publicado 2012

The importance of copy number variation in congenital heart disease

por Costain, Gregory, Silversides, Candice K, Bassett, Anne S
Publicado 2016

Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety

por Costain, Gregory, Cohn, Ronald D., Malkin, David
Publicado 2020

A KCNC1‐related neurological disorder due to gain of Kv3.1 function

por Clatot, Jerome, Ginn, Natalie, Costain, Gregory, Goldberg, Ethan M.
Publicado 2022

Genome sequencing as a diagnostic test

por Costain, Gregory, Cohn, Ronald D., Scherer, Stephen W., Marshall, Christian R.
Publicado 2021

Séquençage du génome comme test diagnostique

por Costain, Gregory, Cohn, Ronald D., Scherer, Stephen W., Marshall, Christian R.
Publicado 2022

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

por Lee, Whiwon, Costain, Gregory, Blaser, Susan, Walker, Susan, Marshall, Christian R., Gonorazky, Hernan, Inbar-Feigenberg, Michal
Publicado 2020

Contemporary aetiologies of medical complexity in children: a cohort study

por Haque, Bushra, Khan, Tayyaba, Ushcatz, Inna, Curtis, Meredith, Pan, Amy, Wu, Wendy, Orkin, Julia, Costain, Gregory
Publicado 2023

MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

por Merico, Daniele, Costain, Gregory, Butcher, Nancy J., Warnica, William, Ogura, Lucas, Alfred, Simon E., Brzustowicz, Linda M., Bassett, Anne S.
Publicado 2014

Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice

por Costain, Gregory, Moore, Aideen M., Munroe, Lauren, Williams, Alison, Zlotnik Shaul, Randi, Rockman-Greenberg, Cheryl, Offringa, Martin, Kannu, Peter
Publicado 2017

Adult expression of a 3q13.31 microdeletion

por Lowther, Chelsea, Costain, Gregory, Melvin, Rebecca, Stavropoulos, Dimitri J, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W, Bassett, Anne S
Publicado 2014

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder

por Marwaha, Ashish, Costain, Gregory, Cytrynbaum, Cheryl, Mendoza‐Londono, Roberto, Chad, Lauren, Awamleh, Zain, Chater‐Diehl, Eric, Choufani, Sanaa, Weksberg, Rosanna
Publicado 2022

Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model

por Fiksinski, Ania M., Heung, Tracy, Corral, Maria, Breetvelt, Elemi J., Costain, Gregory, Marshall, Christian R., Kahn, Rene S., Vorstman, Jacob A.S., Bassett, Anne S.
Publicado 2022

Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia

por Mojarad, Bahareh A., Yin, Yue, Manshaei, Roozbeh, Backstrom, Ian, Costain, Gregory, Heung, Tracy, Merico, Daniele, Marshall, Christian R., Bassett, Anne S., Yuen, Ryan K. C.
Publicado 2021

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

por Silversides, Candice K., Lionel, Anath C., Costain, Gregory, Merico, Daniele, Migita, Ohsuke, Liu, Ben, Yuen, Tracy, Rickaby, Jessica, Thiruvahindrapuram, Bhooma, Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Publicado 2012

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

por Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Waserman, Jack, Boyd, Kerry, Noor, Abdul, Speevak, Marsha, Stavropoulos, Dimitri J., Wei, John, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Publicado 2017

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

por Awamleh, Zain, Chater-Diehl, Eric, Choufani, Sanaa, Wei, Elizabeth, Kianmahd, Rebecca R., Yu, Anna, Chad, Lauren, Costain, Gregory, Tan, Wen-Hann, Scherer, Stephen W., Arboleda, Valerie A., Russell, Bianca E., Weksberg, Rosanna
Publicado 2022

Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

por Luca, Stephanie, Clausen, Marc, Shaw, Angela, Lee, Whiwon, Krishnapillai, Suvetha, Adi-Wauran, Ella, Faghfoury, Hanna, Costain, Gregory, Jobling, Rebekah, Aronson, Melyssa, Liston, Eriskay, Silver, Josh, Shuman, Cheryl, Chad, Lauren, Hayeems, Robin Z., Bombard, Yvonne
Publicado 2023

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

por Merico, Daniele, Zarrei, Mehdi, Costain, Gregory, Ogura, Lucas, Alipanahi, Babak, Gazzellone, Matthew J., Butcher, Nancy J., Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Chow, Eva W. C., Andrade, Danielle M., Frey, Brendan J., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Publicado 2015

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

por Costain, Gregory, Walker, Susan, Argiropoulos, Bob, Baribeau, Danielle A., Bassett, Anne S., Boot, Erik, Devriendt, Koen, Kellam, Barbara, Marshall, Christian R., Prasad, Aparna, Serrano, Moises A., Stavropoulos, D. James, Twede, Hope, Vermeesch, Joris R., Vorstman, Jacob A. S., Scherer, Stephen W.
Publicado 2019