Assistant Professor

Abdul Noor

Department of Laboratory Medicine & Pathobiology - Cytogenetics

MSc, MPhil, PhD, FCCMG

Mount Sinai Hospital: Sinai Health
700 University Ave., Cytogenetics, Room 8-400-15, Toronto, Ontario Canada M5G 1Z5
Research Interests
Genetics Genomics & Proteomics, Molecular & Cell Biology
Clinical Interests
Cytogenetics, Clinical Embryology
Appointment Status
Accepting MHSc students

Dr Abdul Noor serves as Director, Genetic Diagnostics in the Department of  Pathology and Laboratory Medicine (PLM) at the Mount Sinai Hospital.

His research uses genomic technologies such as high density microarrays to understand the genetic basis of developmental disorders and for diagnosis of genetic disorders.

Dr Noor received his PhD from the University of Toronto for the study of genomic copy number variations (CNVs) to understand the etiology of autism and intellectual disability.

After his PhD, he worked in the Cytogenetic Lab at the Hospital for Sick Children for two years where he gained extensive experience in clinical reporting of genomic structural variations.

He completed his Canadian College of Medical Geneticists (CCMG) fellowship in Cytogenetics at the Hospital for Sick Children, University of Toronto.

Research Synopsis

My research focuses on identification of genomic copy number variants associated with developmental disorders and development of new tests to improve diagnosis of the genetic disorders.

I am also interested in implementing new genomic technologies in the clinical setting.

In our laboratory, we use high density microarray and other cytogenomic and molecular tests for prenatal and perinatal diagnosis.

Selected Publications

Harripaul R, Noor A, Ayub M, Vincent JB. The Use of Next Generation Sequencing for Research and Diagnostics for Intellectual Disability. Cold Spring Harbor Perspectives in Medicine. 2017 Mar 1;7(3).

McCuaig JM, Noor A, Rosen B, Casper RF, Mitri F, Colgan T, Kim RH. Case Report: Use of Tumor and Germline Y Chromosomal Analysis to Guide Surgical Management in a 46, XX Female Presenting With Gonadoblastoma with Dysgerminoma. International Journal of Gynecological Pathology. 2016 Nov 1-5.

Uddin M, Pellecchia G, Thiruvahindrapuram B, D’Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RKC, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George MA, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. Scientific Reports. 2016 Jul 1.

Noor A, Stavropoulos DJ. Current Tools for Interpretation of Genomic Copy Number Variants. Current Genetic Medicine Reports. 2015 Dec 1;3(4):202-208.

Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ, DDD Study, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clin Genet. 2015 Sep 1;88(3):224-33.

Noor A, Lionel AC, Cohen-Woods S, Moghimi N, Rucker J, Fennell A, Thiruvahindrapuram B, Kaufman L, Degagne B, Wei J, Parikh SV, Muglia P, Forte J, Scherer SW, Kennedy JL, Xu W, McGuffin P, Farmer A, Strauss J, Vincent JB. Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. Am J Med Genet B Neuropsychiatr Genet. 2014 Apr 3. doi: 10.1002/ajmg.b.32232.

Egger G, Roetzer KM, Noor A, Lionel AC, Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR, Windpassinger C, Petek E, Scherer SW, Kaschnitz W, Vincent JB. Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics. 2014 May 1;15(2):117-27.

Xu W, Cohen-Woods S, Chen Q, Noor A, Knight J, Hosang G, Parikh SV, De Luca V, Tozzi F, Muglia P, Forte J, McQuillin A, Hu P, Gurling HM, Kennedy JL, McGuffin P, Farmer A, Strauss J, Vincent JB. Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1. BMC Med Genet. 2014 Jan 4;15(1):2.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Bedford HM, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Lowry RB, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Della Monica M, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet. 2014 May 15;23(10):2752-68.

Moalem S, Keating S, Shannon P, Thompson M, Millar K, Nykamp K, Forster A, Noor A, Chitayat D. Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene. Am J Med Genet A. 2013 Jul;161A(7):1792-6.

Chénier S, Noor A, Dupuis L, Stavropoulos DJ, Mendoza-Londono R. Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2. Am J Med Genet. 2012 Nov 1;158A(11):2946-52. 

Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Sher F,  Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB. Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal recessive intellectual disability. Am J Hum Genet. 2012 May 4;90(5):856-63.

Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF. Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures. Clin Genet. 2012 Dec;82(6):540-545.

Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2011 Jul 15;89(1):176-82.

Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13;145(4):513-28.


Director, Genetic Diagnostics in the Department of  Pathology and Laboratory Medicine (PLM), Mount Sinai Hospital