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: rs4890109

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs4890109

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver.

Frontiers In Pharmacology

Klein, Kathrin K; Winter, Stefan S; Turpeinen, Miia M; Schwab, Matthias M; Zanger, Ulrich M UM

Publication Date: 2010

Variant appearance in text: rs4890109

PubMed Link: 21918647

Variant Present in the following documents:

• Main text
• fphar-01-00129.pdf

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The retinoic acid receptor alpha (RARA) gene is not associated with myopia, hypermetropia, and ocular biometric measures.

Molecular Vision

Veerappan, S S; Schäche, M M; Pertile, K K KK; Islam, F M A FM; Chen, C Y CY; Mitchell, P P; Dirani, M M; Baird, P N PN

Publication Date: 2009-07-17

Variant appearance in text: rs4890109

PubMed Link: 19626135

Variant Present in the following documents:

• Main text

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Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat.

Nutrition & Metabolism

Seip, Richard L RL; Volek, Jeff S JS; Windemuth, Andreas A; Kocherla, Mohan M; Fernandez, Maria Luz ML; Kraemer, William J WJ; Ruaño, Gualberto G

Publication Date: 2008-02-06

Variant appearance in text: rs4890109

PubMed Link: 18254975

Variant Present in the following documents:

• Main text
• 1743-7075-5-4.pdf

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Association of bone morphogenetic proteins with otosclerosis.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Schrauwen, Isabelle I; Thys, Melissa M; Vanderstraeten, Kathleen K; Fransen, Erik E; Dieltjens, Nele N; Huyghe, Jeroen R JR; Ealy, Megan M; Claustres, Mireille M; Cremers, Cor R W J CR; Dhooge, Ingeborg I; Declau, Frank F; Van de Heyning, Paul P; Vincent, Robert R; Somers, Thomas T; Offeciers, Erwin E; Smith, Richard J H RJ; Van Camp, Guy G

Publication Date: 2008-04

Variant appearance in text: rs4890109

PubMed Link: 18021008

Variant Present in the following documents:

• Main text

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