Assistant Professor

Christian Marshall

Department of Laboratory Medicine & Pathobiology - Molecular Genetics


Hospital for Sick Children (SickKids)
555 University Ave., Paed Lab Medicine, Room 3203B, Toronto, Ontario Canada M5G 1X8
Research Interests
Genetics Genomics & Proteomics, Molecular & Cell Biology
Clinical Interests
Molecular Genetics
Appointment Status

Dr Christian Marshall is a Molecular Laboratory Director in the Division of Genome Diagnostics in Department of Pediatric Laboratory Medicine at The Hospital for Sick Children (SickKids).

Dr Marshall also serves as a Scientist at SickKids Centre for Applied Genomics (TCAG) and Centre for Genetic Medicine.

He obtained his Ph.D in molecular biology at Simon Fraser University in Vancouver, Canada before moving to Toronto to complete a post-doctoral fellowship in Autism genomics and Clinical Molecular Genetics and Genomics training at SickKids.

Dr Marshall’s current research focuses on the application of new sequencing technologies for identification of human genome variation and its relation to disease.

Specifically, he is interested in the discovery of genomic variation associated with neurodevelopmental disorders such as autism spectrum disorder (ASD), Schizophrenia, and Attention Deficit Hyperactivity Disorder.

As a principal investigator for SickKids Genome Clinic, Dr. Marshall is exploring the utility of whole genome sequencing in pediatric medicine and the translation of the technology into clinical diagnostics.


Research Synopsis


My broad research interest is in the analysis of human genome variation and how it relates to disease phenotypes.

Earlier work focused on characterizing structural variation in the human genome and developing techniques to analyze high resolution microarray technology for copy number variation (CNV).

Through application of this technical expertise we used CNV analysis to pinpoint genes involved in genetic susceptibility to autism spectrum disorder (ASD).

These data resulted in discovery of several CNVs associated with ASD, making significant contributions to understanding ASD genetic etiology.

This work was expanded to other neurodevelopment disorders (Schizophrenia, Attention Deficit Hyperactivity Disorder, and Obsessive Compulsive Disorder) including cross disorder comparisons for discovery of causative genetic variants using clinical microarray data.

My current research interests are now focused on using high throughput sequencing techniques, both whole exome and whole genome sequencing, for identification of disease causing variants.

This area of research is predominantly translational, as we are developing sequence analysis pipelines and new genomic tests that can be used in the diagnostic laboratory to increase molecular diagnosis.

On a long term basis we are interested in assessing the diagnostic and clinical utility of whole genome sequencing as it moves into clinical practice.


Recent Publications


Lionel AC…Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med 2017. [Epub ahead of print; Aug 3]

Bassett AS…Marshall CR; International 22q11.2DS Brain and Behavior Consortium (2017). Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. Am J Psychiatry 2017. [Epub ahead of print; Jul 28]

Tsiplova K, Zur RM, Marshall CR…Ungar WJ. A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder. Genet Med 2017. Epub ahead of print; May 4]

O'Brien A, Marshall CR, Blaser S, Ray PN, Yoon G. Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. Eur J Hum Genet 2017; 25(6):775-778.

C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR…Scherer SW. Whole Genome Sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci 2017; 20(4):602-611.

Gonorazky HD, Marshall CR, Al-Murshed M, Hazrati LN, Thor MG, Hanna MG, Männikkö R, Ray PN, Yoon G. Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. Neuromuscul Disord 2017; 27(6):574-580.

Marshall CR Merico D, O’Donovan M, Scherer SW, Neale BM, Sebat J, CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet 2017; 49(1): 27-35.

Lowther C….Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS. Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genet Med 2017; 19 (1):53-61.

Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS. Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. Am J Hum Genet 2016; 99(6):1359-1367.

Stavropoulos DJ…Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Managemen in Pediatric Medicine. NPJ Genom Med 2016; doi: 10.1038/npjgenmed.2015.12.

Naseer MI, Sogaty S, Rasool M, Chaudhary AG, Abutalib YA, Walker S, Marshall CR, Merico D, Carter MT, Scherer SW, Al-Qahtani MH, Zarrei M. Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing. Am J Med Genet A 2016; 170(11): 3018-3022.

Jobling RK , Assoum M , Gakh O , Blaser S , Raiman JA , Mignot C , Roze E , Dürr A , Brice A , Lévy N, Prasad C , Paton T , Paterson AD , Roslin NM , Marshall CR , Desvignes JP , Roëckel-Trevisiol N , Scherer SW , Rouleau GA , Mégarbané A , Isaya G , Delague V , Yoon G. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain 2015; 138: 1505-17.

Tammimies K, Marshall CR,...Fernandez BA. (2015) Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole Exome Sequencing in Children With Autism Spectrum Disorder. JAMA. 2015 Sep 1;314(9): 895-903. PMID: 26325558.

Marshall CR, Farrell SA, Cushing D, Paton T, Stockley TL, Stavropoulos DJ, Ray, PN, Szego M, Lau L, Pereira SL, Cohn RD, Wintle RF, Abuzenadah AM, Abu-Elmagd M, Scherer SW. Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. BMC Genomics 2015; 16: S12.

Marshall CR, Scherer SW , Zariwala MA , Lau L , Paton TA , Stockley T , Jobling RK , Ray PN , Knowles MR , FORGE Canada Consortium , Hall DA , Dell SD , Kim RH. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.G3 (Bethesda, Md.) 2015; 5(8): 1775-1781