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: rs10800775

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: TNNT2: 200-387A>G; rs10800775

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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Cardiac troponin T (TNNT2) mutations in chinese dilated cardiomyopathy patients.

Biomed Research International

Li, Xiaoping X; Luo, Rong R; Gu, Haiyong H; Deng, Yun Y; Xu, Xiaolei X; Wu, Xiushan X; Hua, Wei W

Publication Date: 2014

Variant appearance in text: rs10800775

PubMed Link: 25110706

Variant Present in the following documents:

• Main text
• BMRI2014-907360.pdf

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Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Yang, Li L; Neale, Benjamin M BM; Liu, Lu L; Lee, S Hong SH; Wray, Naomi R NR; Ji, Ning N; Li, Haimei H; Qian, Qiujin Q; Wang, Dongliang D; Li, Jun J; Faraone, Stephen V SV; Wang, Yufeng Y; ,

Publication Date: 2013-07

Variant appearance in text: rs10800775

PubMed Link: 23728934

Variant Present in the following documents:

• Main text

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TNNT2 gene polymorphisms are associated with susceptibility to idiopathic dilated cardiomyopathy in the Han Chinese population.

Biomed Research International

Li, Xiaoping X; Wang, Huan H; Luo, Rong R; Gu, Haiyong H; Zhang, Channa C; Zhang, Yu Y; Hui, Rutai R; Wu, Xiushan X; Hua, Wei W

Publication Date: 2013

Variant appearance in text: rs10800775

PubMed Link: 23586019

Variant Present in the following documents:

• Main text
• BMRI2013-201372.pdf

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