Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs917793

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: YKT6: 188-131A>T; rs917793

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

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The Interaction of a Diabetes Gene Risk Score With 3 Different Antihypertensive Medications for Incident Glucose-level Elevation.

American Journal Of Hypertension

Barzilay, Joshua I JI; Lai, Dejian D; Davis, Barry R BR; Pressel, Sara S; Previn, Hannah E HE; Arnett, Donna K DK

Publication Date: 2019-03-16

Variant appearance in text: rs917793

PubMed Link: 30590387

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population genomic analysis of elongated skulls reveals extensive female-biased immigration in Early Medieval Bavaria.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Veeramah, Krishna R KR; Rott, Andreas A; Groß, Melanie M; van Dorp, Lucy L; López, Saioa S; Kirsanow, Karola K; Sell, Christian C; Blöcher, Jens J; Wegmann, Daniel D; Link, Vivian V; Hofmanová, Zuzana Z; Peters, Joris J; Trautmann, Bernd B; Gairhos, Anja A; Haberstroh, Jochen J; Päffgen, Bernd B; Hellenthal, Garrett G; Haas-Gebhard, Brigitte B; Harbeck, Michaela M; Burger, Joachim J

Publication Date: 2018-03-27

Variant appearance in text: rs917793

PubMed Link: 29531040

Variant Present in the following documents:

• pnas.1719880115.sapp.pdf

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CDKAL1 rs7756992 is associated with diabetic retinopathy in a Chinese population with type 2 diabetes.

Scientific Reports

Peng, Danfeng D; Wang, Jie J; Zhang, Rong R; Jiang, Feng F; Tam, Claudia H T CHT; Jiang, Guozhi G; Wang, Tao T; Chen, Miao M; Yan, Jing J; Wang, Shiyun S; Yan, Dandan D; He, Zhen Z; Ma, Ronald C W RCW; Bao, Yuqian Y; Hu, Cheng C; Jia, Weiping W

Publication Date: 2017-08-18

Variant appearance in text: rs917793

PubMed Link: 28821857

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs917793

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine

Nagy, Reka R; Boutin, Thibaud S TS; Marten, Jonathan J; Huffman, Jennifer E JE; Kerr, Shona M SM; Campbell, Archie A; Evenden, Louise L; Gibson, Jude J; Amador, Carmen C; Howard, David M DM; Navarro, Pau P; Morris, Andrew A; Deary, Ian J IJ; Hocking, Lynne J LJ; Padmanabhan, Sandosh S; Smith, Blair H BH; Joshi, Peter P; Wilson, James F JF; Hastie, Nicholas D ND; Wright, Alan F AF; McIntosh, Andrew M AM; Porteous, David J DJ; Haley, Chris S CS; Vitart, Veronique V; Hayward, Caroline C

Publication Date: 2017-03-07

Variant appearance in text: rs917793

PubMed Link: 28270201

Variant Present in the following documents:

• Main text

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Association of prediabetes-associated single nucleotide polymorphisms with microalbuminuria.

Plos One

Choi, Jong Wook JW; Moon, Shinje S; Jang, Eun Jung EJ; Lee, Chang Hwa CH; Park, Joon-Sung JS

Publication Date: 2017

Variant appearance in text: rs917793

PubMed Link: 28158221

Variant Present in the following documents:

• Main text
• pone.0171367.pdf

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Joint effects of diabetic-related genomic loci on the therapeutic efficacy of oral anti-diabetic drugs in Chinese type 2 diabetes patients.

Scientific Reports

Chen, Miao M; Zhang, Rong R; Jiang, Feng F; Wang, Jie J; Peng, Danfeng D; Yan, Jing J; Wang, Shiyun S; Wang, Tao T; Bao, Yuqian Y; Hu, Cheng C; Jia, Weiping W

Publication Date: 2016-03-17

Variant appearance in text: rs917793

PubMed Link: 26983698

Variant Present in the following documents:

• Main text
• srep23266.pdf

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The pharmacogenetics of type 2 diabetes: a systematic review.

Diabetes Care

Maruthur, Nisa M NM; Gribble, Matthew O MO; Bennett, Wendy L WL; Bolen, Shari S; Wilson, Lisa M LM; Balakrishnan, Poojitha P; Sahu, Anita A; Bass, Eric E; Kao, W H Linda WH; Clark, Jeanne M JM

Publication Date: 2014

Variant appearance in text: rs917793

PubMed Link: 24558078

Variant Present in the following documents:

• 876.pdf
• supp_37.3.876v131276_DC131276SupplementaryData1.pdf

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Maternal and offspring fasting glucose and type 2 diabetes-associated genetic variants and cognitive function at age 8: a Mendelian randomization study in the Avon Longitudinal Study of Parents and Children.

Bmc Medical Genetics

Bonilla, Carolina C; Lawlor, Debbie A DA; Ben-Shlomo, Yoav Y; Ness, Andrew R AR; Gunnell, David D; Ring, Susan M SM; Smith, George Davey GD; Lewis, Sarah J SJ

Publication Date: 2012-09-27

Variant appearance in text: rs917793

PubMed Link: 23013243

Variant Present in the following documents:

• Main text

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Effects of genetic variants previously associated with fasting glucose and insulin in the Diabetes Prevention Program.

Plos One

Florez, Jose C JC; Jablonski, Kathleen A KA; McAteer, Jarred B JB; Franks, Paul W PW; Mason, Clinton C CC; Mather, Kieren K; Horton, Edward E; Goldberg, Ronald R; Dabelea, Dana D; Kahn, Steven E SE; Arakaki, Richard F RF; Shuldiner, Alan R AR; Knowler, William C WC; ,

Publication Date: 2012

Variant appearance in text: rs917793

PubMed Link: 22984506

Variant Present in the following documents:

• Main text
• pone.0044424.pdf

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Updated genetic score based on 34 confirmed type 2 diabetes Loci is associated with diabetes incidence and regression to normoglycemia in the diabetes prevention program.

Diabetes

Hivert, Marie-France MF; Jablonski, Kathleen A KA; Perreault, Leigh L; Saxena, Richa R; McAteer, Jarred B JB; Franks, Paul W PW; Hamman, Richard F RF; Kahn, Steven E SE; Haffner, Steven S; , ; Meigs, James B JB; Altshuler, David D; Knowler, William C WC; Florez, Jose C JC; ,

Publication Date: 2011-04

Variant appearance in text: rs917793

PubMed Link: 21378175

Variant Present in the following documents:

• Main text
• 1340.pdf

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Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type 2 diabetes among Indian Asians and European Caucasians.

Diabetes

Chambers, John C JC; Zhang, Weihua W; Zabaneh, Delilah D; Sehmi, Joban J; Jain, Piyush P; McCarthy, Mark I MI; Froguel, Philippe P; Ruokonen, Aimo A; Balding, David D; Jarvelin, Marjo-Riitta MR; Scott, James J; Elliott, Paul P; Kooner, Jaspal S JS

Publication Date: 2009-11

Variant appearance in text: rs917793

PubMed Link: 19651812

Variant Present in the following documents:

• supp_db08-1805_db08-1805_online_appendix.pdf

View BVdb publication page

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