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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1985 2
1986 1
1987 1
1988 2
1989 3
1991 1
1992 2
1993 1
1994 1
1995 1
1996 4
1997 1
1998 1
1999 3
2000 2
2001 4
2002 2
2003 3
2004 4
2005 6
2006 8
2007 8
2008 4
2009 4
2010 5
2011 7
2012 7
2013 6
2014 3
2015 3
2016 1
2017 1
2018 4
2019 5
2020 2
2021 1
2022 1
2023 1
2024 1

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106 results

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Page 1
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W… See abstract for full author list ➔ Holstege H, et al. Among authors: gille jjp. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium; Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porte… See abstract for full author list ➔ Rebbeck TR, et al. Among authors: gille jj. JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985. JAMA. 2015. PMID: 25849179 Free PMC article.
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.
Correa-da-Silva F, Carter J, Wang XY, Sun R, Pathak E, Kuhn JMM, Schriever SC, Maya-Monteiro CM, Jiao H, Kalsbeek MJ, Moraes-Vieira PMM, Gille JJP, Sinnema M, Stumpel CTRM, Curfs LMG, Stenvers DJ, Pfluger PT, Lutter D, Pereira AM, Kalsbeek A, Fliers E, Swaab DF, Wilkinson L, Gao Y, Yi CX. Correa-da-Silva F, et al. Among authors: gille jjp. Acta Neuropathol. 2024 Mar 31;147(1):64. doi: 10.1007/s00401-024-02714-0. Acta Neuropathol. 2024. PMID: 38556574 Free PMC article.
PALB2 analysis in BRCA2-like families.
Adank MA, van Mil SE, Gille JJ, Waisfisz Q, Meijers-Heijboer H. Adank MA, et al. Among authors: gille jj. Breast Cancer Res Treat. 2011 Jun;127(2):357-62. doi: 10.1007/s10549-010-1001-1. Epub 2010 Jun 26. Breast Cancer Res Treat. 2011. PMID: 20582465
Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome.
Renes JS, Knijnenburg J, Chitoe-Ramawadhdoebe S, Gille JJP, de Bruin C, Barge-Schaapveld DQCM. Renes JS, et al. Among authors: gille jjp. J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1381-1386. doi: 10.1515/jpem-2018-0265. J Pediatr Endocrinol Metab. 2018. PMID: 30447145
106 results