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662 results

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Page 1
ALU transposition induces familial hypertrophic cardiomyopathy.
Nfonsam L, Huang L, Carson N, McGowan-Jordan J, Beaulieu Bergeron M, Goobie S, Conacher S, McCarty D, Benson L, Hewson S, Zahavich L, Sinclair-Bourque E, Smith A, Potter R, Ghani M, Bronicki L, Jarinova O. Nfonsam L, et al. Among authors: ghani m. Mol Genet Genomic Med. 2020 Jan;8(1):e951. doi: 10.1002/mgg3.951. Epub 2019 Sep 30. Mol Genet Genomic Med. 2020. PMID: 31568709 Free PMC article.
Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory.
Nfonsam L, Ordorica S, Ghani M, Potter R, Schaffer A, Daoud H, Vasli N, Chisholm C, Sinclair-Bourque E, McGowan-Jordan J, Smith AC, Jarinova O, Bronicki L. Nfonsam L, et al. Among authors: ghani m. J Med Genet. 2019 Jun;56(6):408-412. doi: 10.1136/jmedgenet-2018-105443. Epub 2018 Sep 21. J Med Genet. 2019. PMID: 30242101
Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting.
Daoud H, Ghani M, Nfonsam L, Potter R, Ordorica S, Haslett V, Santos N, Derksen H, Lahey D, McGill M, Trudel V, Antoniuk B, Vasli N, Chisholm C, Mettler G, Sinclair-Bourque E, McGowan-Jordan J, Smith A, Roberts R, Jarinova O. Daoud H, et al. Among authors: ghani m. J Mol Diagn. 2019 May;21(3):437-448. doi: 10.1016/j.jmoldx.2019.01.004. Epub 2019 Feb 4. J Mol Diagn. 2019. PMID: 30731207 Free article.
Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.
Pranckeviciene E, Racacho L, Ghani M, Nfonsam L, Potter R, Sinclair-Bourque E, Mettler G, Smith A, Bronicki L, Huang L, Jarinova O. Pranckeviciene E, et al. Among authors: ghani m. Hum Genet. 2021 Feb;140(2):289-297. doi: 10.1007/s00439-020-02201-y. Epub 2020 Jul 5. Hum Genet. 2021. PMID: 32627054
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration.
Farhan SMK, Dilliott AA, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, St George-Hyslop P, Bulman DE, Rogaeva E, Hegele RA; ONDRI Investigators. Farhan SMK, et al. Among authors: ghani m. NPJ Genom Med. 2016 Sep 21;1:16032. doi: 10.1038/npjgenmed.2016.32. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263818 Free PMC article.
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H. Darvish H, et al. Among authors: ghani m. J Med Genet. 2010 Dec;47(12):823-8. doi: 10.1136/jmg.2009.076398. Epub 2010 Oct 26. J Med Genet. 2010. PMID: 20978018
662 results