Mahdi Ghani

Mahdi Ghani

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Mahdi Ghani

Mahdi Ghani

Publications by authors named "Mahdi Ghani"

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35Publications

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Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories.

J Mol Diagn 2019 Jul 25;21(4):602-611. Epub 2019 Apr 25.

Department of Genetics, CHEO, Ottawa, Ontario, Canada; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2019.02.009DOI Listing
July 2019

Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting.

J Mol Diagn 2019 May 4;21(3):437-448. Epub 2019 Feb 4.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2019.01.004DOI Listing
May 2019

An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk.

Neurobiol Aging 2018 06 3;66:178.e1-178.e8. Epub 2018 Jan 3.

Tanz Centre for Research in Neurodegenerative Diseases, and Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.12.027DOI Listing
June 2018

Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.

Genet Med 2018 Mar 14;20(3):365-368. Epub 2017 Dec 14.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2017.191DOI Listing
March 2018

Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations.

Alzheimers Dement 2017 May 12;13(5):520-530. Epub 2016 Oct 12.

L.C. Campbell Cognitive Neurology Research Unit, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada; Brain Sciences Research Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada; Toronto Dementia Research Alliance, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jalz.2016.08.014DOI Listing
May 2017

Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28.

J Neurol Neurosurg Psychiatry 2016 11 6;87(11):1268-1270. Epub 2016 May 6.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1136/jnnp-2016-313592DOI Listing
November 2016

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.

Neurobiol Aging 2016 06 21;42:217.e7-217.e13. Epub 2016 Mar 21.

Tanz Centre for Research in Neurodegenerative Diseases, and Department of Medicine, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.03.009DOI Listing
June 2016

Novel GRN Mutations in Patients with Corticobasal Syndrome.

Sci Rep 2016 Mar 10;6:22913. Epub 2016 Mar 10.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard avenue, Toronto, ON M5T 2S8, Canada.

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http://dx.doi.org/10.1038/srep22913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785496PMC
March 2016

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease.

Neurobiol Aging 2016 Feb 6;38:217.e7-217.e8. Epub 2015 Nov 6.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.10.038DOI Listing
February 2016

MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis.

Brain 2016 Jan 2;139(Pt 1):86-100. Epub 2015 Nov 2.

1 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, M5T 2S8, Canada 2 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, M5S 1A1, Canada

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http://dx.doi.org/10.1093/brain/awv308DOI Listing
January 2016

Mutation analysis of CHCHD10 in different neurodegenerative diseases.

Brain 2015 Sep 31;138(Pt 9):e380. Epub 2015 Mar 31.

1 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, Ontario, Canada, M5T 2S8 8 Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada M5S 1A8

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http://dx.doi.org/10.1093/brain/awv082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547051PMC
September 2015

Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease.

Genet Med 2015 Aug 13;17(8):639-43. Epub 2014 Nov 13.

1] The Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA [2] The Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA [3] Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA [4] Department of Neurology, Columbia University, New York, New York, USA [5] Department of Psychiatry, School of Public Health, Columbia University, New York, New York, USA.

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https://ncrad.iu.edu/docs/Publications/32_Vardarajan_2014.pd
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http://www.nature.com/doifinder/10.1038/gim.2014.161
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http://dx.doi.org/10.1038/gim.2014.161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430451PMC
August 2015

Coding mutations in SORL1 and Alzheimer disease.

Ann Neurol 2015 Feb;77(2):215-27

Taub Institute for Research on Alzheimer's Disease and the Aging Brain; Gertrude H. Sergievsky Center, Columbia University, New York, NY.

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http://dx.doi.org/10.1002/ana.24305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367199PMC
February 2015

Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

Neurobiol Aging 2015 Jan 1;36(1):545.e9-14. Epub 2014 Aug 1.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580140050
Publisher Site
http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4268030PMC
January 2015

Identical twins with the C9orf72 repeat expansion are discordant for ALS.

Neurology 2014 Oct 10;83(16):1476-8. Epub 2014 Sep 10.

From the Tanz Centre for Research in Neurodegenerative Diseases (Z.X., S.D., M.G., D.M., C.S., Y.L., J.R., E.R.) and Division of Neurology (L.Z., E.R.), University of Toronto (Y.Y.); Sunnybrook Health Sciences Centre (Y.Y., L.Z.), Toronto, Canada; Mayo Clinic (M.v.B., R.R.), Jacksonville, FL; and the Laboratory of Neurogenetics (A.S.), National Institute on Aging, Bethesda, MD.

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http://dx.doi.org/10.1212/WNL.0000000000000886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4206161PMC
October 2014

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity.

JAMA Neurol 2013 Oct;70(10):1261-7

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada4Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jamaneurol.2013.3545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3991012PMC
October 2013

Segmental duplications in genome-wide significant loci and housekeeping genes; warning for GAPDH and ACTB.

Neurobiol Aging 2013 Jun 11;34(6):1710.e1-4. Epub 2012 Dec 11.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.11.006DOI Listing
June 2013

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion.

Am J Hum Genet 2013 Jun 23;92(6):981-9. Epub 2013 May 23.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 6 Queen's Park Crescent West, Toronto, ON M5S 3H2, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2013.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675239PMC
June 2013

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism.

Neurobiol Aging 2012 Dec 21;33(12):2949.e5-2949.e12. Epub 2012 Jul 21.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.07.001DOI Listing
December 2012

Fcγ receptor polymorphisms do not predict response to intravenous immunoglobulin in myasthenia gravis.

J Clin Neuromuscul Dis 2012 Sep;14(1):1-6

Division of Neurology, Department of Medicine, University Health Network, Toronto General Hospital, Toronto, Canada.

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http://dx.doi.org/10.1097/CND.0b013e31825c566bDOI Listing
September 2012