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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J. Hathaway J, et al. Among authors: schleit j. BMC Cardiovasc Disord. 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. BMC Cardiovasc Disord. 2021. PMID: 33673806 Free PMC article.
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Koskenvuo JW, Saarinen I, Ahonen S, Tommiska J, Weckström S, Seppälä EH, Tuupanen S, Kangas-Kontio T, Schleit J, Heliö K, Hathaway J, Gummesson A, Dahlberg P, Ojala TH, Vepsäläinen V, Kytölä V, Muona M, Sistonen J, Salmenperä P, Gentile M, Paananen J, Myllykangas S, Alastalo TP, Heliö T. Koskenvuo JW, et al. Among authors: schleit j. PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021. PLoS One. 2021. PMID: 33534821 Free PMC article.
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Tuupanen S, Gall K, Sistonen J, Saarinen I, Kämpjärvi K, Wells K, Merkkiniemi K, von Nandelstadh P, Sarantaus L, Känsäkoski J, Mårtenson E, Västinsalo H, Schleit J, Sankila EM, Kere A, Junnila H, Siivonen P, Andreevskaya M, Kytölä V, Muona M, Salmenperä P, Myllykangas S, Koskenvuo J, Alastalo TP. Tuupanen S, et al. Among authors: schleit j. Transl Vis Sci Technol. 2022 Jan 3;11(1):6. doi: 10.1167/tvst.11.1.6. Transl Vis Sci Technol. 2022. PMID: 34985506 Free PMC article.
First, do no harm: direct-to-consumer genetic testing.
Schleit J, Naylor LV, Hisama FM. Schleit J, et al. Genet Med. 2019 Feb;21(2):510-511. doi: 10.1038/s41436-018-0071-z. Epub 2018 Jun 14. Genet Med. 2019. PMID: 29904164 Free article. No abstract available.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Among authors: schleit j. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso DR, Sillence D, Hisama FM, Dorschner M, Martin GM, Oshima J. Sargolzaeiaval F, et al. Among authors: schleit j. Mol Genet Genomic Med. 2018 Nov;6(6):1148-1156. doi: 10.1002/mgg3.495. Epub 2018 Nov 4. Mol Genet Genomic Med. 2018. PMID: 30393977 Free PMC article.
25 results