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: rs2024092

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_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: SBNO2: 442-10C>T; rs2024092

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs2024092

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs2024092

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: SBNO2: 442-10C>T; rs2024092

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature

Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC

Publication Date: 2017-07-13

Variant appearance in text: rs2024092

PubMed Link: 28658209

Variant Present in the following documents:

• NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2

View BVdb publication page

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Combination treatment with 6-mercaptopurine and allopurinol in HepG2 and HEK293 cells - Effects on gene expression levels and thiopurine metabolism.

Plos One

Haglund, Sofie S; Vikingsson, Svante S; Almer, Sven S; Söderman, Jan J

Publication Date: 2017

Variant appearance in text: rs2024092

PubMed Link: 28278299

Variant Present in the following documents:

• Main text
• pone.0173825.pdf

View BVdb publication page

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Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

Expert Review Of Clinical Immunology

Ye, Byong Duk BD; McGovern, Dermot P B DP

Publication Date: 2016-10

Variant appearance in text: rs2024092

PubMed Link: 27156530

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of Inflammatory Bowel Diseases.

Gastroenterology

McGovern, Dermot P B DP; Kugathasan, Subra S; Cho, Judy H JH

Publication Date: 2015-10

Variant appearance in text: rs2024092

PubMed Link: 26255561

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Nature

Jostins, Luke L; Ripke, Stephan S; Weersma, Rinse K RK; Duerr, Richard H RH; McGovern, Dermot P DP; Hui, Ken Y KY; Lee, James C JC; Schumm, L Philip LP; Sharma, Yashoda Y; Anderson, Carl A CA; Essers, Jonah J; Mitrovic, Mitja M; Ning, Kaida K; Cleynen, Isabelle I; Theatre, Emilie E; Spain, Sarah L SL; Raychaudhuri, Soumya S; Goyette, Philippe P; Wei, Zhi Z; Abraham, Clara C; Achkar, Jean-Paul JP; Ahmad, Tariq T; Amininejad, Leila L; Ananthakrishnan, Ashwin N AN; Andersen, Vibeke V; Andrews, Jane M JM; Baidoo, Leonard L; Balschun, Tobias T; Bampton, Peter A PA; Bitton, Alain A; Boucher, Gabrielle G; Brand, Stephan S; Büning, Carsten C; Cohain, Ariella A; Cichon, Sven S; D'Amato, Mauro M; De Jong, Dirk D; Devaney, Kathy L KL; Dubinsky, Marla M; Edwards, Cathryn C; Ellinghaus, David D; Ferguson, Lynnette R LR; Franchimont, Denis D; Fransen, Karin K; Gearry, Richard R; Georges, Michel M; Gieger, Christian C; Glas, Jürgen J; Haritunians, Talin T; Hart, Ailsa A; Hawkey, Chris C; Hedl, Matija M; Hu, Xinli X; Karlsen, Tom H TH; Kupcinskas, Limas L; Kugathasan, Subra S; Latiano, Anna A; Laukens, Debby D; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mahy, Gillian G; Mansfield, John J; Morgan, Angharad R AR; Mowat, Craig C; Newman, William W; Palmieri, Orazio O; Ponsioen, Cyriel Y CY; Potocnik, Uros U; Prescott, Natalie J NJ; Regueiro, Miguel M; Rotter, Jerome I JI; Russell, Richard K RK; Sanderson, Jeremy D JD; Sans, Miquel M; Satsangi, Jack J; Schreiber, Stefan S; Simms, Lisa A LA; Sventoraityte, Jurgita J; Targan, Stephan R SR; Taylor, Kent D KD; Tremelling, Mark M; Verspaget, Hein W HW; De Vos, Martine M; Wijmenga, Cisca C; Wilson, David C DC; Winkelmann, Juliane J; Xavier, Ramnik J RJ; Zeissig, Sebastian S; Zhang, Bin B; Zhang, Clarence K CK; Zhao, Hongyu H; , ; Silverberg, Mark S MS; Annese, Vito V; Hakonarson, Hakon H; Brant, Steven R SR; Radford-Smith, Graham G; Mathew, Christopher G CG; Rioux, John D JD; Schadt, Eric E EE; Daly, Mark J MJ; Franke, Andre A; Parkes, Miles M; Vermeire, Severine S; Barrett, Jeffrey C JC; Cho, Judy H JH

Publication Date: 2012-11-01

Variant appearance in text: rs2024092

PubMed Link: 23128233

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.

Human Molecular Genetics

McGovern, Dermot P B DP; Jones, Michelle R MR; Taylor, Kent D KD; Marciante, Kristin K; Yan, Xiaofei X; Dubinsky, Marla M; Ippoliti, Andy A; Vasiliauskas, Eric E; Berel, Dror D; Derkowski, Carrie C; Dutridge, Deb D; Fleshner, Phil P; Shih, David Q DQ; Melmed, Gil G; Mengesha, Emebet E; King, Lily L; Pressman, Sheila S; Haritunians, Talin T; Guo, Xiuqing X; Targan, Stephan R SR; Rotter, Jerome I JI; ,

Publication Date: 2010-09-01

Variant appearance in text: rs2024092

PubMed Link: 20570966

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

Nature Genetics

Silverberg, Mark S MS; Cho, Judy H JH; Rioux, John D JD; McGovern, Dermot P B DP; Wu, Jing J; Annese, Vito V; Achkar, Jean-Paul JP; Goyette, Philippe P; Scott, Regan R; Xu, Wei W; Barmada, M Michael MM; Klei, Lambertus L; Daly, Mark J MJ; Abraham, Clara C; Bayless, Theodore M TM; Bossa, Fabrizio F; Griffiths, Anne M AM; Ippoliti, Andrew F AF; Lahaie, Raymond G RG; Latiano, Anna A; Paré, Pierre P; Proctor, Deborah D DD; Regueiro, Miguel D MD; Steinhart, A Hillary AH; Targan, Stephan R SR; Schumm, L Philip LP; Kistner, Emily O EO; Lee, Annette T AT; Gregersen, Peter K PK; Rotter, Jerome I JI; Brant, Steven R SR; Taylor, Kent D KD; Roeder, Kathryn K; Duerr, Richard H RH

Publication Date: 2009-02

Variant appearance in text: rs2024092

PubMed Link: 19122664

Variant Present in the following documents:

• NIHMS74184-supplement-1.pdf

View BVdb publication page

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