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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: potter r. 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: potter r. 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
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: potter r. 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: potter r. Hum Genet. 2021 Feb;140(2):289-297. doi: 10.1007/s00439-020-02201-y. Epub 2020 Jul 5. Hum Genet. 2021. PMID: 32627054
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: potter r. 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.
Fragile X testing as a second-tier test.
Hartley T, Potter R, Badalato L, Smith AC, Jarinova O, Boycott KM. Hartley T, et al. Among authors: potter r. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.147. Epub 2017 Sep 14. Genet Med. 2017. PMID: 28914265 Free article. No abstract available.
Early Ultrasound Surveillance of Newly-Created Hemodialysis Arteriovenous Fistula.
Richards J, Summers D, Sidders A, Allen E, Thomas H, Hossain MA, Paul S, Slater M, Bartlett M, Lagaac R, Laing E, Hopkins V, Fitzpatrick-Creamer C, Hudson C, Parsons J, Turner S, Tambyraja A, Somalanka S, Hunter J, Dutta S, Hoye N, Lawman S, Salter T, Aslam M, Bagul A, Sivaprakasam R, Smith G, Moinuddin Z, Knight S, Barnett N, Motallebzadeh R, Pettigrew GJ; SONAR trial group. Richards J, et al. Kidney Int Rep. 2024 Jan 5;9(4):1005-1019. doi: 10.1016/j.ekir.2024.01.011. eCollection 2024 Apr. Kidney Int Rep. 2024. PMID: 38765580 Free PMC article.
Dynamics of magnetization at infinite temperature in a Heisenberg spin chain.
Rosenberg E, Andersen TI, Samajdar R, Petukhov A, Hoke JC, Abanin D, Bengtsson A, Drozdov IK, Erickson C, Klimov PV, Mi X, Morvan A, Neeley M, Neill C, Acharya R, Allen R, Anderson K, Ansmann M, Arute F, Arya K, Asfaw A, Atalaya J, Bardin JC, Bilmes A, Bortoli G, Bourassa A, Bovaird J, Brill L, Broughton M, Buckley BB, Buell DA, Burger T, Burkett B, Bushnell N, Campero J, Chang HS, Chen Z, Chiaro B, Chik D, Cogan J, Collins R, Conner P, Courtney W, Crook AL, Curtin B, Debroy DM, Barba ADT, Demura S, Di Paolo A, Dunsworth A, Earle C, Faoro L, Farhi E, Fatemi R, Ferreira VS, Burgos LF, Forati E, Fowler AG, Foxen B, Garcia G, Genois É, Giang W, Gidney C, Gilboa D, Giustina M, Gosula R, Dau AG, Gross JA, Habegger S, Hamilton MC, Hansen M, Harrigan MP, Harrington SD, Heu P, Hill G, Hoffmann MR, Hong S, Huang T, Huff A, Huggins WJ, Ioffe LB, Isakov SV, Iveland J, Jeffrey E, Jiang Z, Jones C, Juhas P, Kafri D, Khattar T, Khezri M, Kieferová M, Kim S, Kitaev A, Klots AR, Korotkov AN, Kostritsa F, Kreikebaum JM, Landhuis D, Laptev P, Lau KM, Laws L, Lee J, Lee KW, Lensky YD, Lester BJ, Lill AT, Liu W, Locharla A, Mandrà S, Martin O, Martin S, McClean JR, McEwen M, Meeks S, Miao KC, Mieszal… See abstract for full author list ➔ Rosenberg E, et al. Among authors: potter r. Science. 2024 Apr 5;384(6691):48-53. doi: 10.1126/science.adi7877. Epub 2024 Apr 4. Science. 2024. PMID: 38574139
1,135 results