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: rs1864400

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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The advances of genetics research on Hirschsprung's disease.

Pediatric Investigation

Ke, Juntao J; Zhu, Ying Y; Miao, Xiaoping X

Publication Date: 2018-09

Variant appearance in text: rs1864400

PubMed Link: 32851260

Variant Present in the following documents:

• Main text
• PED4-2-189.pdf

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A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.

Plos One

Kim, Jeong-Hyun JH; Cheong, Hyun Sub HS; Sul, Jae Hoon JH; Seo, Jeong-Meen JM; Kim, Dae-Yeon DY; Oh, Jung-Tak JT; Park, Kwi-Won KW; Kim, Hyun-Young HY; Jung, Soo-Min SM; Jung, Kyuwhan K; Cho, Min Jeng MJ; Bae, Joon Seol JS; Shin, Hyoung Doo HD

Publication Date: 2014

Variant appearance in text: rs1864400

PubMed Link: 25310821

Variant Present in the following documents:

• Main text
• pone.0110292.pdf

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