Publications:

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: MC1R: R160R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

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Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci.

Frontiers In Genetics

Shen, Changbing C; Gao, Jing J; Sheng, Yujun Y; Dou, Jinfa J; Zhou, Fusheng F; Zheng, Xiaodong X; Ko, Randy R; Tang, Xianfa X; Zhu, Caihong C; Yin, Xianyong X; Sun, Liangdan L; Cui, Yong Y; Zhang, Xuejun X

Publication Date: 2016

Variant appearance in text: MC1R: Arg160Arg

PubMed Link: 26870082

Variant Present in the following documents:

• Main text
• fgene-07-00003.pdf

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A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International

Hu, Hui-Han HH; Benfodda, Mériem M; Dumaz, Nicolas N; Gazal, Steven S; Descamps, Vincent V; Bourillon, Agnès A; Basset-Seguin, Nicole N; Riffault, Angélique A; Ezzedine, Khaled K; Bagot, Martine M; Bensussan, Armand A; Saiag, Philippe P; Grandchamp, Bernard B; Soufir, Nadem N

Publication Date: 2014

Variant appearance in text: MC1R: 478C>A; R160R

PubMed Link: 24982914

Variant Present in the following documents:

• Main text
• BMRI2014-925716.pdf

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