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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. 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. 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: nfonsam l. 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.
Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories.
Ghani M, Nfonsam L, Pranckeviciene E, Daoud H, Potter R, Chisholm C, Harper PE, Schaffer A, Little L, Sinclair-Bourque E, McGowan-Jordan J, Smith A, Bronicki L, Jarinova O. Ghani M, et al. Among authors: nfonsam l. J Mol Diagn. 2019 Jul;21(4):602-611. doi: 10.1016/j.jmoldx.2019.02.009. Epub 2019 Apr 25. J Mol Diagn. 2019. PMID: 31028938 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: nfonsam l. Hum Genet. 2021 Feb;140(2):289-297. doi: 10.1007/s00439-020-02201-y. Epub 2020 Jul 5. Hum Genet. 2021. PMID: 32627054
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris P, Stephanou C, Lederer CW, Traeger-Synodinos J, Bento C, Harteveld CL, Fylaktou E, Koopmann TT, Halim-Fikri H, Michailidou K, Nfonsam LE, Waye JS, Zilfalil BA, Kleanthous M; ClinGen Hemoglobinopathy Variant Curation Expert Panel. Kountouris P, et al. Among authors: nfonsam le. Hum Mutat. 2022 Aug;43(8):1089-1096. doi: 10.1002/humu.24280. Epub 2021 Sep 24. Hum Mutat. 2022. PMID: 34510646 Free PMC article.
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