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A case of Fragile X-associated tremor/ataxia syndrome (FXTAS).
Mishra SK, Khosa S, Trikamji B, Khanli HM, Scheuner MT, Jamal NI, Hanssen AM. Mishra SK, et al. Among authors: scheuner mt. J Clin Neurosci. 2019 Aug;66:269-270. doi: 10.1016/j.jocn.2019.05.044. Epub 2019 Jun 6. J Clin Neurosci. 2019. PMID: 31178302
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators; Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hu… See abstract for full author list ➔ Coignard J, et al. Among authors: scheuner mt. Nat Commun. 2021 Feb 17;12(1):1078. doi: 10.1038/s41467-020-20496-3. Nat Commun. 2021. PMID: 33597508 Free PMC article.
Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.
Duong HA, Le KT, Soulema AL, Yueh RH, Scheuner MT, Holick MF, Christensen R, Tajima TL, Leung AM, Mallya SM. Duong HA, et al. Among authors: scheuner mt. Oral Surg Oral Med Oral Pathol Oral Radiol. 2016 May;121(5):e123-8. doi: 10.1016/j.oooo.2016.01.014. Epub 2016 Jan 28. Oral Surg Oral Med Oral Pathol Oral Radiol. 2016. PMID: 27068316 Free PMC article.
The value of genetic testing: beyond clinical utility.
Lerner B, Marshall N, Oishi S, Lanto A, Lee M, Hamilton AB, Yano EM, Scheuner MT. Lerner B, et al. Among authors: scheuner mt. Genet Med. 2017 Jul;19(7):763-771. doi: 10.1038/gim.2016.186. Epub 2016 Dec 15. Genet Med. 2017. PMID: 27977007 Free article.
Response to Gammal et al.
Vassy JL, Stone A, Callaghan JT, Mendes M, Meyer LJ, Pratt VM, Przygodzki RM, Scheuner MT, Wang-Rodriguez J, Schichman SA; VHA Clinical Pharmacogenetics Subcommittee. Vassy JL, et al. Among authors: scheuner mt. Genet Med. 2019 Aug;21(8):1888-1889. doi: 10.1038/s41436-018-0422-9. Epub 2019 Jan 12. Genet Med. 2019. PMID: 30635623 No abstract available.
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators; Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hu… See abstract for full author list ➔ Coignard J, et al. Among authors: scheuner mt. Nat Commun. 2021 May 14;12(1):2986. doi: 10.1038/s41467-021-23162-4. Nat Commun. 2021. PMID: 33990587 Free PMC article.
75 results