Publications:

Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits.

Plos Genetics

Chun, Sung S; Akle, Sebastian S; Teodosiadis, Athanasios A; Cade, Brian E BE; Wang, Heming H; Sofer, Tamar T; Evans, Daniel S DS; Stone, Katie L KL; Gharib, Sina A SA; Mukherjee, Sutapa S; Palmer, Lyle J LJ; Hillman, David D; Rotter, Jerome I JI; Hanis, Craig L CL; Stamatoyannopoulos, John A JA; Redline, Susan S; Cotsapas, Chris C; Sunyaev, Shamil R SR

Publication Date: 2022-12-27

Variant appearance in text: rs10160596

PubMed Link: 36574455

Variant Present in the following documents:

• Main text
• pgen.1010557.pdf

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs10160596

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: EHBP1L1: 3093+128G>A; rs10160596

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: EHBP1L1: 3093+128G>A; rs10160596

PubMed Link: 33462484

Variant Present in the following documents:

• NIHMS1651539-supplement-2.xlsx, sheet 21

View BVdb publication page