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

Gene Structure Evolution of the Na(+)-Ca(2+ )Exchanger (NCX) Family

por On, Caly, Marshall, Christian R, Chen, Nansheng, Moyes, Christopher D, Tibbits, Glen F
Publicado 2008

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

por Bassett, Anne S., Marshall, Christian R., Lionel, Anath C., Chow, Eva W.C., Scherer, Stephen W.
Publicado 2008

Candidate genes and biological processes in de novo CNVs from autistic individuals

por Noh, Hyun J, Marshall, Christian R, Pinto, Dalila, Scherer, Stephen W, Ponting, Chris P, Webber, Caleb
Publicado 2010

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

Sequencing of isolated sperm cells for direct haplotyping of a human genome

por Kirkness, Ewen F., Grindberg, Rashel V., Yee-Greenbaum, Joyclyn, Marshall, Christian R., Scherer, Stephen W., Lasken, Roger S., Venter, J. Craig
Publicado 2013

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

Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia

por Mokhtar, Siti Shuhada, Marshall, Christian R., Phipps, Maude E., Thiruvahindrapuram, Bhooma, Lionel, Anath C., Scherer, Stephen W., Peng, Hoh Boon
Publicado 2014

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

Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene

por Ghahramani Seno, Mohammad M, Kwan, Benjamin YM, Lee-Ng, Ka Ki M, Moessner, Rainald, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W
Publicado 2011

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy

por Boon-Peng, Hoh, Mat Jusoh, Julia Ashazila, Marshall, Christian R., Majid, Fadhlina, Danuri, Norlaila, Basir, Fashieha, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Yusoff, Khalid
Publicado 2016

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson’s disease

por Butcher, Nancy J., Merico, Daniele, Zarrei, Mehdi, Ogura, Lucas, Marshall, Christian R., Chow, Eva W. C., Lang, Anthony E., Scherer, Stephen W., Bassett, Anne S.
Publicado 2017

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

por Marshall, Christian R., Bick, David, Belmont, John W., Taylor, Stacie L., Ashley, Euan, Dimmock, David, Jobanputra, Vaidehi, Kearney, Hutton M., Kulkarni, Shashikant, Rehm, Heidi
Publicado 2020

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

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

por Baskin, Berivan, Stavropoulos, Dimitri J, Rebeiro, Paige A, Orr, Jennifer, Li, Martin, Steele, Leslie, Marshall, Christian R, Lemire, Edmond G, Boycott, Kym M, Gibson, William, Ray, Peter N
Publicado 2014

Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

por Noh, Hyun Ji, Ponting, Chris P., Boulding, Hannah C., Meader, Stephen, Betancur, Catalina, Buxbaum, Joseph D., Pinto, Dalila, Marshall, Christian R., Lionel, Anath C., Scherer, Stephen W., Webber, Caleb
Publicado 2013

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

RNAseq analysis for the diagnosis of muscular dystrophy

por Gonorazky, Hernan, Liang, Minggao, Cummings, Beryl, Lek, Monkol, Micallef, Johann, Hawkins, Cynthia, Basran, Raveen, Cohn, Ronald, Wilson, Michael D., MacArthur, Daniel, Marshall, Christian R., Ray, Peter N., Dowling, James J.
Publicado 2015