Publications:

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs3784262

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

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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: rs3784262

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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Intrinsic Cellular Susceptibility to Barrett's Esophagus in Adults Born with Esophageal Atresia.

Cancers

Ten Kate, Chantal A CA; de Klein, Annelies A; de Graaf, Bianca M BM; Doukas, Michail M; Koivusalo, Antti A; Pakarinen, Mikko P MP; van der Helm, Robert R; Brands, Tom T; IJsselstijn, Hanneke H; van Bever, Yolande Y; Wijnen, René M H RMH; Spaander, Manon C W MCW; Brosens, Erwin E

Publication Date: 2022-01-20

Variant appearance in text: rs3784262

PubMed Link: 35158780

Variant Present in the following documents:

• Main text
• cancers-14-00513.pdf

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Intrinsic Cellular Susceptibility to Barrett's Esophagus in Adults Born with Esophageal Atresia.

Cancers

Ten Kate, Chantal A CA; de Klein, Annelies A; de Graaf, Bianca M BM; Doukas, Michail M; Koivusalo, Antti A; Pakarinen, Mikko P MP; van der Helm, Robert R; Brands, Tom T; IJsselstijn, Hanneke H; van Bever, Yolande Y; Wijnen, René M H RMH; Spaander, Manon C W MCW; Brosens, Erwin E

Publication Date: 2022-01-20

Variant appearance in text: rs3784262

PubMed Link: 35158780

Variant Present in the following documents:

• Main text
• cancers-14-00513.pdf

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: ALDH1A2: 1410-64A>G; rs3784262

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1
• CNR2-4-e1335-s003.xlsx, sheet 2

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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: ALDH1A2: 1410-64A>G; rs3784262

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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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: rs3784262

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Genetic susceptibility to Barrett's oesophagus: Lessons from early studies.

United European Gastroenterology Journal

Findlay, John M JM; Middleton, Mark R MR; Tomlinson, Ian I

Publication Date: 2016-08

Variant appearance in text: rs3784262

PubMed Link: 27536357

Variant Present in the following documents:

• Main text
• 10.1177_2050640615611018.pdf

View BVdb publication page

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The Barrett-associated variants at GDF7 and TBX5 also increase esophageal adenocarcinoma risk.

Cancer Medicine

Becker, Jessica J; May, Andrea A; Gerges, Christian C; Anders, Mario M; Schmidt, Claudia C; Veits, Lothar L; Noder, Tania T; Mayershofer, Rupert R; Kreuser, Nicole N; Manner, Hendrik H; Venerito, Marino M; Hofer, Jan-Hinnerk JH; Lyros, Orestis O; Ahlbrand, Constantin J CJ; Arras, Michael M; Hofer, Sebastian S; Heinrichs, Sophie K M SK; Weise, Katharina K; Hess, Timo T; Böhmer, Anne C AC; Kosiol, Nils N; Kiesslich, Ralf R; Izbicki, Jakob R JR; Hölscher, Arnulf H AH; Bollschweiler, Elfriede E; Malfertheiner, Peter P; Lang, Hauke H; Moehler, Markus M; Lorenz, Dietmar D; Ott, Katja K; Schmidt, Thomas T; Nöthen, Markus M MM; Hackelsberger, Andreas A; Schumacher, Brigitte B; Pech, Oliver O; Vashist, Yogesh Y; Vieth, Michael M; Weismüller, Josef J; Knapp, Michael M; Neuhaus, Horst H; Rösch, Thomas T; Ell, Christian C; Gockel, Ines I; Schumacher, Johannes J

Publication Date: 2016-05

Variant appearance in text: rs3784262

PubMed Link: 26783083

Variant Present in the following documents:

• Main text
• CAM4-5-888.pdf

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Chronic gastroesophageal reflux disease shares genetic background with esophageal adenocarcinoma and Barrett's esophagus.

Human Molecular Genetics

Gharahkhani, Puya P; Tung, Joyce J; Hinds, David D; Mishra, Aniket A; , ; Vaughan, Thomas L TL; Whiteman, David C DC; MacGregor, Stuart S; ,

Publication Date: 2016-02-15

Variant appearance in text: rs3784262

PubMed Link: 26704365

Variant Present in the following documents:

• Main text

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs3784262

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

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Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus.

Gastroenterology

Palles, Claire C; Chegwidden, Laura L; Li, Xinzhong X; Findlay, John M JM; Farnham, Garry G; Castro Giner, Francesc F; Peppelenbosch, Maikel P MP; Kovac, Michal M; Adams, Claire L CL; Prenen, Hans H; Briggs, Sarah S; Harrison, Rebecca R; Sanders, Scott S; MacDonald, David D; Haigh, Chris C; Tucker, Art A; Love, Sharon S; Nanji, Manoj M; deCaestecker, John J; Ferry, David D; Rathbone, Barrie B; Hapeshi, Julie J; Barr, Hugh H; Moayyedi, Paul P; Watson, Peter P; Zietek, Barbara B; Maroo, Neera N; Gay, Laura L; Underwood, Tim T; Boulter, Lisa L; McMurtry, Hugh H; Monk, David D; Patel, Praful P; Ragunath, Krish K; Al Dulaimi, David D; Murray, Iain I; Koss, Konrad K; Veitch, Andrew A; Trudgill, Nigel N; Nwokolo, Chuka C; Rembacken, Bjorn B; Atherfold, Paul P; Green, Elaine E; Ang, Yeng Y; Kuipers, Ernst J EJ; Chow, Wu W; Paterson, Stuart S; Kadri, Sudarshan S; Beales, Ian I; Grimley, Charles C; Mullins, Paul P; Beckett, Conrad C; Farrant, Mark M; Dixon, Andrew A; Kelly, Sean S; Johnson, Matthew M; Wajed, Shahjehan S; Dhar, Anjan A; Sawyer, Elinor E; Roylance, Rebecca R; Onstad, Lynn L; Gammon, Marilie D MD; Corley, Douglas A DA; Shaheen, Nicholas J NJ; Bird, Nigel C NC; Hardie, Laura J LJ; Reid, Brian J BJ; Ye, Weimin W; Liu, Geoffrey G; Romero, Yvonne Y; Bernstein, Leslie L; Wu, Anna H AH; Casson, Alan G AG; Fitzgerald, Rebecca R; Whiteman, David C DC; Risch, Harvey A HA; Levine, David M DM; Vaughan, Tom L TL; Verhaar, Auke P AP; van den Brande, Jan J; Toxopeus, Eelke L EL; Spaander, Manon C MC; Wijnhoven, Bas P L BP; van der Laan, Luc J W LJ; Krishnadath, Kausilia K; Wijmenga, Cisca C; Trynka, Gosia G; McManus, Ross R; Reynolds, John V JV; O'Sullivan, Jacintha J; MacMathuna, Padraic P; McGarrigle, Sarah A SA; Kelleher, Dermot D; Vermeire, Severine S; Cleynen, Isabelle I; Bisschops, Raf R; Tomlinson, Ian I; Jankowski, Janusz J

Publication Date: 2015-02

Variant appearance in text: rs3784262

PubMed Link: 25447851

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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