Publications:

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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: rs2684811

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Modified eQTL and Somatic DNA Segment Alterations in Esophageal Squamous Cell Carcinoma for Genes Related to Immunity, DNA Repair, and Inflammation.

Cancers

Yang, Howard H HH; Liu, Huaitian H; Hu, Nan N; Su, Hua H; Wang, Chaoyu C; Giffen, Carol C; Goldstein, Alisa M AM; Taylor, Philip R PR; Lee, Maxwell P MP

Publication Date: 2022-03-23

Variant appearance in text: rs2684811

PubMed Link: 35406404

Variant Present in the following documents:

• cancers-14-01629.pdf

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Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes.

Npj Genomic Medicine

Bhattacharjee, Esha E; Maitra, Arindam A

Publication Date: 2021-06-08

Variant appearance in text: rs2684811

PubMed Link: 34103530

Variant Present in the following documents:

• Main text
• 41525_2021_Article_209.pdf

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Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study.

Plos One

Sokolowski, Marcus M; Wasserman, Jerzy J; Wasserman, Danuta D

Publication Date: 2016

Variant appearance in text: rs2684811

PubMed Link: 28030616

Variant Present in the following documents:

• pone.0168531.s001.pdf

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Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

Plos Genetics

Radner, Franz P W FP; Marrakchi, Slaheddine S; Kirchmeier, Peter P; Kim, Gwang-Jin GJ; Ribierre, Florence F; Kamoun, Bourane B; Abid, Leila L; Leipoldt, Michael M; Turki, Hamida H; Schempp, Werner W; Heilig, Roland R; Lathrop, Mark M; Fischer, Judith J

Publication Date: 2013-06

Variant appearance in text: rs2684811

PubMed Link: 23754960

Variant Present in the following documents:

• Main text
• pgen.1003536.pdf

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Candidate gene linkage approach to identify DNA variants that predispose to preterm birth.

Pediatric Research

Bream, Elise N A EN; Leppellere, Cara R CR; Cooper, Margaret E ME; Dagle, John M JM; Merrill, David C DC; Christensen, Kaare K; Simhan, Hyagriv N HN; Fong, Chin-To CT; Hallman, Mikko M; Muglia, Louis J LJ; Marazita, Mary L ML; Murray, Jeffrey C JC

Publication Date: 2013-02

Variant appearance in text: rs2684811

PubMed Link: 23168575

Variant Present in the following documents:

• Main text

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Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.

Plos Genetics

Haataja, Ritva R; Karjalainen, Minna K MK; Luukkonen, Aino A; Teramo, Kari K; Puttonen, Hilkka H; Ojaniemi, Marja M; Varilo, Teppo T; Chaudhari, Bimal P BP; Plunkett, Jevon J; Murray, Jeffrey C JC; McCarroll, Steven A SA; Peltonen, Leena L; Muglia, Louis J LJ; Palotie, Aarno A; Hallman, Mikko M

Publication Date: 2011-02-03

Variant appearance in text: rs2684811

PubMed Link: 21304894

Variant Present in the following documents:

• Main text
• pgen.1001293.pdf

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