Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting

Por Bassett, Anne S., Costain, Gregory, Marshall, Christian R.
Publicado no Prenat Diagn (2016)

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 em 2008

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB

Por O'Brien, Alan, Marshall, Christian R, Blaser, Susan, Ray, Peter N, Yoon, Grace
Publicado no Eur J Hum Genet (2017)

13q13.1–q13.2 deletion in tetralogy of Fallot: Clinical report and a literature review

Por Costain, Gregory, Silversides, Candice K., Marshall, Christian R., Shago, Mary, Costain, Nicholas, Bassett, Anne S.
Publicado em 2010

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 em 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 em 2009

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 em 2010

1q21.1 Microduplication expression in adults

Por Dolcetti, Alessia, Silversides, Candice K., Marshall, Christian R., Lionel, Anath C., Stavropoulos, Dimitri J., Scherer, Stephen W., Bassett, Anne S.
Publicado em 2012

Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets

Por Warnica, William, Merico, Daniele, Costain, Gregory, Alfred, Simon E., Wei, John, Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Publicado no Biol Psychiatry (2014)

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 em 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 em 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 em 2014

Adult Neuropsychiatric Expression and Familial Segregation of 2q13 Duplications

Por Costain, Gregory, Lionel, Anath C., Fu, Fiona, Stavropoulos, Dimitri J., Gazzellone, Matthew J., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Publicado no Am J Med Genet B Neuropsychiatr Genet (2014)

Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome

Por Shlien, Adam, Tabori, Uri, Marshall, Christian R., Pienkowska, Malgorzata, Feuk, Lars, Novokmet, Ana, Nanda, Sonia, Druker, Harriet, Scherer, Stephen W., Malkin, David
Publicado em 2008

The Common Inversion of the Williams–Beuren Syndrome Region at 7q11.23 Does Not Cause Clinical Symptoms

Por Tam, Elaine, Young, Edwin J., Morris, Colleen A., Marshall, Christian R., Loo, Wayne, Scherer, Stephen W., Mervis, Carolyn B., Osborne, Lucy R.
Publicado em 2008

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 em 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 no PLoS One (2016)

Contribution of SHANK3 Mutations to Autism Spectrum Disorder

Por Moessner, Rainald , Marshall, Christian R. , Sutcliffe, James S. , Skaug, Jennifer , Pinto, Dalila , Vincent, John , Zwaigenbaum, Lonnie , Fernandez, Bridget , Roberts, Wendy , Szatmari, Peter , Scherer, Stephen W. 
Publicado em 2007

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 no PLoS One (2017)

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 em 2012