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: rs1763597

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: HSPB7: 333+272G>A; rs1763597

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

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Genetic polymorphisms associated with heart failure: A literature review.

The Journal Of International Medical Research

Guo, Mengqi M; Guo, Guanlun G; Ji, Xiaoping X

Publication Date: 2016-02

Variant appearance in text: rs1763597

PubMed Link: 26769713

Variant Present in the following documents:

• Main text
• 10.1177_0300060515604755.pdf

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Common Variants for Heart Failure.

Current Genomics

Shen, Shutong S; Tao, Lichan L; Wang, Xiuzhi X; Kong, Xiangqing X; Li, Xinli X

Publication Date: 2015-04

Variant appearance in text: rs1763597

PubMed Link: 26085806

Variant Present in the following documents:

• Main text
• CG-16-82.pdf

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Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.

Human Heredity

Sile, Saba S; Velez, Digna R DR; Gillani, Niloufar B NB; Alexander, Charles A CA; Alexander, Charles R CR; George, Alfred L AL; Williams, Scott M SM

Publication Date: 2008

Variant appearance in text: rs1763597

PubMed Link: 17652939

Variant Present in the following documents:

• Main text

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