Publications:

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The impact of non-additive genetic associations on age-related complex diseases.

Nature Communications

Guindo-Martínez, Marta M; Amela, Ramon R; Bonàs-Guarch, Silvia S; Puiggròs, Montserrat M; Salvoro, Cecilia C; Miguel-Escalada, Irene I; Carey, Caitlin E CE; Cole, Joanne B JB; Rüeger, Sina S; Atkinson, Elizabeth E; Leong, Aaron A; Sanchez, Friman F; Ramon-Cortes, Cristian C; Ejarque, Jorge J; Palmer, Duncan S DS; Kurki, Mitja M; , ; Aragam, Krishna K; Florez, Jose C JC; Badia, Rosa M RM; Mercader, Josep M JM; Torrents, David D

Publication Date: 2021-04-23

Variant appearance in text: rs870992

PubMed Link: 33893285

Variant Present in the following documents:

• Main text

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Identification of novel high-impact recessively inherited type 2 diabetes risk variants in the Greenlandic population.

Diabetologia

Grarup, Niels N; Moltke, Ida I; Andersen, Mette K MK; Bjerregaard, Peter P; Larsen, Christina V L CVL; Dahl-Petersen, Inger K IK; Jørsboe, Emil E; Tiwari, Hemant K HK; Hopkins, Scarlett E SE; Wiener, Howard W HW; Boyer, Bert B BB; Linneberg, Allan A; Pedersen, Oluf O; Jørgensen, Marit E ME; Albrechtsen, Anders A; Hansen, Torben T

Publication Date: 2018-09

Variant appearance in text: rs870992

PubMed Link: 29926116

Variant Present in the following documents:

• Main text
• 125_2018_Article_4659.pdf
• 125_2018_4659_MOESM1_ESM.pdf

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs870992

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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A powerful statistical framework for generalization testing in GWAS, with application to the HCHS/SOL.

Genetic Epidemiology

Sofer, Tamar T; Heller, Ruth R; Bogomolov, Marina M; Avery, Christy L CL; Graff, Mariaelisa M; North, Kari E KE; Reiner, Alex P AP; Thornton, Timothy A TA; Rice, Kenneth K; Benjamini, Yoav Y; Laurie, Cathy C CC; Kerr, Kathleen F KF

Publication Date: 2017-04

Variant appearance in text: rs870992

PubMed Link: 28090672

Variant Present in the following documents:

• Main text

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Computational dissection of human episodic memory reveals mental process-specific genetic profiles.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Luksys, Gediminas G; Fastenrath, Matthias M; Coynel, David D; Freytag, Virginie V; Gschwind, Leo L; Heck, Angela A; Jessen, Frank F; Maier, Wolfgang W; Milnik, Annette A; Riedel-Heller, Steffi G SG; Scherer, Martin M; Spalek, Klara K; Vogler, Christian C; Wagner, Michael M; Wolfsgruber, Steffen S; Papassotiropoulos, Andreas A; de Quervain, Dominique J-F DJ

Publication Date: 2015-09-01

Variant appearance in text: rs870992

PubMed Link: 26261317

Variant Present in the following documents:

• Main text

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Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

American Journal Of Human Genetics

Melquist, Stacey S; Craig, David W DW; Huentelman, Matthew J MJ; Crook, Richard R; Pearson, John V JV; Baker, Matt M; Zismann, Victoria L VL; Gass, Jennifer J; Adamson, Jennifer J; Szelinger, Szabolcs S; Corneveaux, Jason J; Cannon, Ashley A; Coon, Keith D KD; Lincoln, Sarah S; Adler, Charles C; Tuite, Paul P; Calne, Donald B DB; Bigio, Eileen H EH; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Golbe, Lawrence I LI; Caselli, Richard J RJ; Graff-Radford, Neill N; Litvan, Irene I; Farrer, Matthew J MJ; Dickson, Dennis W DW; Hutton, Mike M; Stephan, Dietrich A DA

Publication Date: 2007-04

Variant appearance in text: rs870992

PubMed Link: 17357082

Variant Present in the following documents:

• Main text

View BVdb publication page

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