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: rs62012628

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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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: ADAMTS7: 1323-70G>A; rs62012628

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: ADAMTS7: 1323-70G>A; rs62012628

PubMed Link: 33503336

Variant Present in the following documents:

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

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: rs62012628

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)

Wang, Yan Y; Wang, Ji-Guang JG

Publication Date: 2019-04

Variant appearance in text: rs62012628

PubMed Link: 31049317

Variant Present in the following documents:

• Main text

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: ADAMTS7: 1323-70G>A; rs62012628

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International Journal Of Endocrinology

Azam, Afifah Binti AB; Azizan, Elena Aisha Binti EAB

Publication Date: 2018

Variant appearance in text: rs62012628

PubMed Link: 29666641

Variant Present in the following documents:

• Main text
• IJE2018-7259704.pdf

View BVdb publication page

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Genome-wide genetic and epigenetic analyses of pancreatic acinar cell carcinomas reveal aberrations in genome stability.

Nature Communications

Jäkel, Cornelia C; Bergmann, Frank F; Toth, Reka R; Assenov, Yassen Y; van der Duin, Daniel D; Strobel, Oliver O; Hank, Thomas T; Klöppel, Günter G; Dorrell, Craig C; Grompe, Markus M; Moss, Joshua J; Dor, Yuval Y; Schirmacher, Peter P; Plass, Christoph C; Popanda, Odilia O; Schmezer, Peter P

Publication Date: 2017-11-06

Variant appearance in text: rs62012628

PubMed Link: 29109526

Variant Present in the following documents:

• 41467_2017_1118_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

Nature Genetics

Warren, Helen R HR; Evangelou, Evangelos E; Cabrera, Claudia P CP; Gao, He H; Ren, Meixia M; Mifsud, Borbala B; Ntalla, Ioanna I; Surendran, Praveen P; Liu, Chunyu C; Cook, James P JP; Kraja, Aldi T AT; Drenos, Fotios F; Loh, Marie M; Verweij, Niek N; Marten, Jonathan J; Karaman, Ibrahim I; Lepe, Marcelo P Segura MP; O'Reilly, Paul F PF; Knight, Joanne J; Snieder, Harold H; Kato, Norihiro N; He, Jiang J; Tai, E Shyong ES; Said, M Abdullah MA; Porteous, David D; Alver, Maris M; Poulter, Neil N; Farrall, Martin M; Gansevoort, Ron T RT; Padmanabhan, Sandosh S; Mägi, Reedik R; Stanton, Alice A; Connell, John J; Bakker, Stephan J L SJ; Metspalu, Andres A; Shields, Denis C DC; Thom, Simon S; Brown, Morris M; Sever, Peter P; Esko, Tõnu T; Hayward, Caroline C; van der Harst, Pim P; Saleheen, Danish D; Chowdhury, Rajiv R; Chambers, John C JC; Chasman, Daniel I DI; Chakravarti, Aravinda A; Newton-Cheh, Christopher C; Lindgren, Cecilia M CM; Levy, Daniel D; Kooner, Jaspal S JS; Keavney, Bernard B; Tomaszewski, Maciej M; Samani, Nilesh J NJ; Howson, Joanna M M JM; Tobin, Martin D MD; Munroe, Patricia B PB; Ehret, Georg B GB; Wain, Louise V LV; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; ,

Publication Date: 2017-03

Variant appearance in text: rs62012628

PubMed Link: 28135244

Variant Present in the following documents:

• Main text
• NIHMS70782-supplement-Supplementary_tables.xlsx, sheet 16
• NIHMS70782-supplement-Supplementary_note_and_figures.pdf
• emss-70782.pdf

View BVdb publication page

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