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Year Number of Results
2008 1
2009 1
2011 3
2013 2
2014 3
2015 1
2016 3
2017 7
2018 12
2019 10
2020 10
2021 8
2022 5
2023 5
2024 1

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61 results

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Page 1
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: pachter n. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Among authors: pachter n. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.
Poulton C, Pathak G, Mina K, Lassman T, Azmanov DN, McCormack E, Broley S, Dreyer L, Gration D, Taylor E, OSullivan M, Siafarikis A, Ravikumara M, Dawkins H, Pachter N, Baynam G. Poulton C, et al. Among authors: pachter n. Gene. 2019 May 30;699:110-114. doi: 10.1016/j.gene.2019.02.059. Epub 2019 Mar 4. Gene. 2019. PMID: 30844479 Free PMC article. Review.
Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.
Baynam G, Molster C, Bauskis A, Kowal E, Savarirayan R, Kelaher M, Easteal S, Massey L, Garvey G, Goldblatt J, Pachter N, Weeramanthri TS, Dawkins HJS. Baynam G, et al. Among authors: pachter n. Adv Exp Med Biol. 2017;1031:511-520. doi: 10.1007/978-3-319-67144-4_27. Adv Exp Med Biol. 2017. PMID: 29214589 Review.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Walker R, Mahmood K, Joo JE, Clendenning M, Georgeson P, Como J, Joseland S, Preston SG, Antill Y, Austin R, Boussioutas A, Bowman M, Burke J, Campbell A, Daneshvar S, Edwards E, Gleeson M, Goodwin A, Harris MT, Henderson A, Higgins M, Hopper JL, Hutchinson RA, Ip E, Isbister J, Kasem K, Marfan H, Milnes D, Ng A, Nichols C, O'Connell S, Pachter N, Pope BJ, Poplawski N, Ragunathan A, Smyth C, Spigelman A, Storey K, Susman R, Taylor JA, Warwick L, Wilding M, Williams R, Win AK, Walsh MD, Macrae FA, Jenkins MA, Rosty C, Winship IM, Buchanan DD; Family Cancer Clinics of Australia. Walker R, et al. Among authors: pachter n. J Transl Med. 2023 Apr 26;21(1):282. doi: 10.1186/s12967-023-04143-1. J Transl Med. 2023. PMID: 37101184 Free PMC article.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET, Burns C, Marsili L, Corden B, Parikh VN, Te Meerman GJ, Gray B, Adiyaman A, Bagnall RD, Barge-Schaapveld DQCM, van den Berg MP, Bootsma M, Bosman LP, Correnti G, Duflou J, Eppinga RN, Fatkin D, Fietz M, Haan E, Jongbloed JDH, Hauer AD, Lam L, van Lint FHM, Lota A, Marcelis C, McCarthy HJ, van Mil AM, Oldenburg RA, Pachter N, Planken RN, Reuter C, Semsarian C, van der Smagt JJ, Thompson T, Vohra J, Volders PGA, van Waning JI, Whiffin N, van den Wijngaard A, Amin AS, Wilde AAM, van Woerden G, Yeates L, Zentner D, Ashley EA, Wheeler MT, Ware JS, van Tintelen JP, Ingles J. Hoorntje ET, et al. Among authors: pachter n. Circ Genom Precis Med. 2023 Feb;16(1):e003672. doi: 10.1161/CIRCGEN.121.003672. Epub 2022 Dec 29. Circ Genom Precis Med. 2023. PMID: 36580316 Free PMC article. Review.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Baynam G, et al. Among authors: pachter n. Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Adv Exp Med Biol. 2017. PMID: 29214566 Review.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL, Dressel U, Norris S, Canson DM, Glubb DM, Fortuno C, Hollway GE, Parsons MT, Vidgen ME, Holmes O, Koufariotis LT, Lakis V, Leonard C, Wood S, Xu Q, McCart Reed AE, Pickett HA, Al-Shinnag MK, Austin RL, Burke J, Cops EJ, Nichols CB, Goodwin A, Harris MT, Higgins MJ, Ip EL, Kiraly-Borri C, Lau C, Mansour JL, Millward MW, Monnik MJ, Pachter NS, Ragunathan A, Susman RD, Townshend SL, Trainer AH, Troth SL, Tucker KM, Wallis MJ, Walsh M, Williams RA, Winship IM, Newell F, Tudini E, Pearson JV, Poplawski NK, Mar Fan HG, James PA, Spurdle AB, Waddell N, Ward RL. Davidson AL, et al. Among authors: pachter ns. Genome Med. 2023 Sep 19;15(1):74. doi: 10.1186/s13073-023-01223-1. Genome Med. 2023. PMID: 37723522 Free PMC article.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Bancroft EK, Page EC, Brook MN, Thomas S, Taylor N, Pope J, McHugh J, Jones AB, Karlsson Q, Merson S, Ong KR, Hoffman J, Huber C, Maehle L, Grindedal EM, Stormorken A, Evans DG, Rothwell J, Lalloo F, Brady AF, Bartlett M, Snape K, Hanson H, James P, McKinley J, Mascarenhas L, Syngal S, Ukaegbu C, Side L, Thomas T, Barwell J, Teixeira MR, Izatt L, Suri M, Macrae FA, Poplawski N, Chen-Shtoyerman R, Ahmed M, Musgrave H, Nicolai N, Greenhalgh L, Brewer C, Pachter N, Spigelman AD, Azzabi A, Helfand BT, Halliday D, Buys S, Ramon Y Cajal T, Donaldson A, Cooney KA, Harris M, McGrath J, Davidson R, Taylor A, Cooke P, Myhill K, Hogben M, Aaronson NK, Ardern-Jones A, Bangma CH, Castro E, Dearnaley D, Dias A, Dudderidge T, Eccles DM, Green K, Eyfjord J, Falconer A, Foster CS, Gronberg H, Hamdy FC, Johannsson O, Khoo V, Lilja H, Lindeman GJ, Lubinski J, Axcrona K, Mikropoulos C, Mitra AV, Moynihan C, Ni Raghallaigh H, Rennert G, Collier R; IMPACT Study Collaborators; Offman J, Kote-Jarai Z, Eeles RA. Bancroft EK, et al. Among authors: pachter n. Lancet Oncol. 2021 Nov;22(11):1618-1631. doi: 10.1016/S1470-2045(21)00522-2. Epub 2021 Oct 19. Lancet Oncol. 2021. PMID: 34678156 Free PMC article.
61 results