Publications:

Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility.

Nature Communications

Lee, Arthur S AS; Rusch, Jannette J; Lima, Ana C AC; Usmani, Abul A; Huang, Ni N; Lepamets, Maarja M; Vigh-Conrad, Katinka A KA; Worthington, Ronald E RE; Mägi, Reedik R; Wu, Xiaobo X; Aston, Kenneth I KI; Atkinson, John P JP; Carrell, Douglas T DT; Hess, Rex A RA; O'Bryan, Moira K MK; Conrad, Donald F DF

Publication Date: 2019-10-11

Variant appearance in text: rs2688325

PubMed Link: 31604923

Variant Present in the following documents:

• Main text
• 41467_2019_Article_12522.pdf

View BVdb publication page

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

Nature Communications

Duffy, David L DL; Zhu, Gu G; Li, Xin X; Sanna, Marianna M; Iles, Mark M MM; Jacobs, Leonie C LC; Evans, David M DM; Yazar, Seyhan S; Beesley, Jonathan J; Law, Matthew H MH; Kraft, Peter P; Visconti, Alessia A; Taylor, John C JC; Liu, Fan F; Wright, Margaret J MJ; Henders, Anjali K AK; Bowdler, Lisa L; Glass, Dan D; Ikram, M Arfan MA; Uitterlinden, André G AG; Madden, Pamela A PA; Heath, Andrew C AC; Nelson, Elliot C EC; Green, Adele C AC; Chanock, Stephen S; Barrett, Jennifer H JH; Brown, Matthew A MA; Hayward, Nicholas K NK; MacGregor, Stuart S; Sturm, Richard A RA; Hewitt, Alex W AW; , ; Kayser, Manfred M; Hunter, David J DJ; Newton Bishop, Julia A JA; Spector, Timothy D TD; Montgomery, Grant W GW; Mackey, David A DA; Smith, George Davey GD; Nijsten, Tamar E TE; Bishop, D Timothy DT; Bataille, Veronique V; Falchi, Mario M; Han, Jiali J; Martin, Nicholas G NG

Publication Date: 2018-11-14

Variant appearance in text: rs2688325

PubMed Link: 30429480

Variant Present in the following documents:

• 41467_2018_6649_MOESM1_ESM.pdf

View BVdb publication page

Age at menarche and lung function: a Mendelian randomization study.

European Journal Of Epidemiology

Gill, Dipender D; Sheehan, Nuala A NA; Wielscher, Matthias M; Shrine, Nick N; Amaral, Andre F S AFS; Thompson, John R JR; Granell, Raquel R; Leynaert, Bénédicte B; Real, Francisco Gómez FG; Hall, Ian P IP; Tobin, Martin D MD; Auvinen, Juha J; Ring, Susan M SM; Jarvelin, Marjo-Riitta MR; Wain, Louise V LV; Henderson, John J; Jarvis, Deborah D; Minelli, Cosetta C

Publication Date: 2017-08

Variant appearance in text: rs2688325

PubMed Link: 28624884

Variant Present in the following documents:

• 10654_2017_272_MOESM2_ESM.pdf

View BVdb publication page

Shared genetic aetiology of puberty timing between sexes and with health-related outcomes.

Nature Communications

Day, Felix R FR; Bulik-Sullivan, Brendan B; Hinds, David A DA; Finucane, Hilary K HK; Murabito, Joanne M JM; Tung, Joyce Y JY; Ong, Ken K KK; Perry, John R B JRB

Publication Date: 2015-11-09

Variant appearance in text: rs2688325

PubMed Link: 26548314

Variant Present in the following documents:

• Main text
• ncomms9842.pdf

View BVdb publication page