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: rs11618950

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs11618950

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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: rs11618950

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Variation in genes related to obesity, weight, and weight change and risk of contralateral breast cancer in the WECARE Study population.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Brooks, Jennifer D JD; Bernstein, Leslie L; Teraoka, Sharon N SN; Knight, Julia A JA; Mellemkjær, Lene L; John, Esther M EM; Malone, Kathleen E KE; Reiner, Anne S AS; Lynch, Charles F CF; Concannon, Patrick P; Haile, Robert W RW; Bernstein, Jonine L JL; ,

Publication Date: 2012-12

Variant appearance in text: rs11618950

PubMed Link: 23033454

Variant Present in the following documents:

• Main text

View BVdb publication page

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Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children.

Physiological Genomics

Butte, Nancy F NF; Voruganti, V Saroja VS; Cole, Shelley A SA; Haack, Karin K; Comuzzie, Anthony G AG; Muzny, Donna M DM; Wheeler, David A DA; Chang, Kyle K; Hawes, Alicia A; Gibbs, Richard A RA

Publication Date: 2011-09-22

Variant appearance in text: rs11618950

PubMed Link: 21771880

Variant Present in the following documents:

• Main text

View BVdb publication page

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Insulin-like growth factor-1- and interleukin-6-related gene variation and risk of multiple myeloma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Birmann, Brenda M BM; Tamimi, Rulla M RM; Giovannucci, Edward E; Rosner, Bernard B; Hunter, David J DJ; Kraft, Peter P; Mitsiades, Constantine C; Anderson, Kenneth C KC; Colditz, Graham A GA

Publication Date: 2009-01

Variant appearance in text: rs11618950

PubMed Link: 19124510

Variant Present in the following documents:

• Main text

View BVdb publication page

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