Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: TCF7: P134T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: TCF7: P134T; rs5742913

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 5
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs5742913

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: TCF7: P134T; rs5742913

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: TCF7: P134T; rs5742913

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TCF7: P134T

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Evidence of stage- and age-related heterogeneity of non-HLA SNPs and risk of islet autoimmunity and type 1 diabetes: the diabetes autoimmunity study in the young.

Clinical & Developmental Immunology

Frederiksen, Brittni N BN; Steck, Andrea K AK; Kroehl, Miranda M; Lamb, Molly M MM; Wong, Randall R; Rewers, Marian M; Norris, Jill M JM

Publication Date: 2013

Variant appearance in text: rs5742913

PubMed Link: 24367383

Variant Present in the following documents:

• Main text
• CDI2013-417657.pdf

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The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

Genes And Immunity

Julier, C C; Akolkar, B B; Concannon, P P; Morahan, G G; Nierras, C C; Pugliese, A A; ,

Publication Date: 2009-12

Variant appearance in text: rs5742913

PubMed Link: 19956109

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evidence for association of the TCF7 locus with type I diabetes.

Genes And Immunity

Erlich, H A HA; Valdes, A M AM; Julier, C C; Mirel, D D; Noble, J A JA; ,

Publication Date: 2009-12

Variant appearance in text: rs5742913

PubMed Link: 19956102

Variant Present in the following documents:

• Main text

View BVdb publication page

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Overview of the Rapid Response data.

Genes And Immunity

Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,

Publication Date: 2009-12

Variant appearance in text: rs5742913

PubMed Link: 19956101

Variant Present in the following documents:

• Main text

View BVdb publication page

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A candidate gene association study of 77 polymorphisms in migraine.

The Journal Of Pain

Schürks, Markus M; Kurth, Tobias T; Buring, Julie E JE; Zee, Robert Y L RY

Publication Date: 2009-07

Variant appearance in text: rs5742913

PubMed Link: 19559392

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

Journal Of Hypertension

Conen, David D; Cheng, Suzanne S; Steiner, Lori L LL; Buring, Julie E JE; Ridker, Paul M PM; Zee, Robert Y L RY

Publication Date: 2009-03

Variant appearance in text: rs5742913

PubMed Link: 19330901

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

Clinica Chimica Acta; International Journal Of Clinical Chemistry

Zee, Robert Y L RY; Bubes, Vadim V; Shrivastava, Sanjay S; Ridker, Paul M PM; Glynn, Robert J RJ

Publication Date: 2009-04

Variant appearance in text: rs5742913

PubMed Link: 19263529

Variant Present in the following documents:

• Main text

View BVdb publication page

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A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

Stroke

Wang, Xingyu X; Cheng, Suzanne S; Brophy, Victoria H VH; Erlich, Henry A HA; Mannhalter, Christine C; Berger, Klaus K; Lalouschek, Wolfgang W; Browner, Warren S WS; Shi, Yu Y; Ringelstein, E Bernd EB; Kessler, Christof C; Luedemann, Jan J; Lindpaintner, Klaus K; Liu, Lisheng L; Ridker, Paul M PM; Zee, Robert Y L RY; Cook, Nancy R NR; ,

Publication Date: 2009-03

Variant appearance in text: rs5742913

PubMed Link: 19131662

Variant Present in the following documents:

• Main text

View BVdb publication page

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The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.

Bmc Medical Genetics

Cooper, Jason D JD; Smyth, Deborah J DJ; Bailey, Rebecca R; Payne, Felicity F; Downes, Kate K; Godfrey, Lisa M LM; Masters, Jennifer J; Zeitels, Lauren R LR; Vella, Adrian A; Walker, Neil M NM; Todd, John A JA

Publication Date: 2007-11-28

Variant appearance in text: rs5742913

PubMed Link: 18045485

Variant Present in the following documents:

• Main text
• 1471-2350-8-71.pdf

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Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans.

Genes And Immunity

Brassat, D D; Motsinger, A A AA; Caillier, S J SJ; Erlich, H A HA; Walker, K K; Steiner, L L LL; Cree, B A C BA; Barcellos, L F LF; Pericak-Vance, M A MA; Schmidt, S S; Gregory, S S; Hauser, S L SL; Haines, J L JL; Oksenberg, J R JR; Ritchie, M D MD

Publication Date: 2006-06

Variant appearance in text: rs5742913

PubMed Link: 16625214

Variant Present in the following documents:

• Main text

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Gene-environment interaction effects on the development of immune responses in the 1st year of life.

American Journal Of Human Genetics

Hoffjan, Sabine S; Nicolae, Dan D; Ostrovnaya, Irina I; Roberg, Kathy K; Evans, Michael M; Mirel, Daniel B DB; Steiner, Lori L; Walker, Karen K; Shult, Peter P; Gangnon, Ronald E RE; Gern, James E JE; Martinez, Fernando D FD; Lemanske, Robert F RF; Ober, Carole C

Publication Date: 2005-04

Variant appearance in text: rs5742913

PubMed Link: 15726497

Variant Present in the following documents:

• Main text

View BVdb publication page

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