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: rs2905506

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2905506

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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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: CD6: 49+10662T>C; rs2905506

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2905506

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Fine mapping and functional analysis of the multiple sclerosis risk gene CD6.

Plos One

Swaminathan, Bhairavi B; Cuapio, Angélica A; Alloza, Iraide I; Matesanz, Fuencisla F; Alcina, Antonio A; García-Barcina, Maria M; Fedetz, Maria M; Fernández, Oscar O; Lucas, Miguel M; Orpez, Teresa T; Pinto-Medel, M Jesus MJ; Otaegui, David D; Olascoaga, Javier J; Urcelay, Elena E; Ortiz, Miguel A MA; Arroyo, Rafael R; Oksenberg, Jorge R JR; Antigüedad, Alfredo A; Tolosa, Eva E; Vandenbroeck, Koen K

Publication Date: 2013

Variant appearance in text: rs2905506

PubMed Link: 23638056

Variant Present in the following documents:

• Main text
• pone.0062376.pdf

View BVdb publication page

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Evaluation of a partial genome screening of two asthma susceptibility regions using bayesian network based bayesian multilevel analysis of relevance.

Plos One

Ungvári, Ildikó I; Hullám, Gábor G; Antal, Péter P; Kiszel, Petra Sz PS; Gézsi, András A; Hadadi, Éva É; Virág, Viktor V; Hajós, Gergely G; Millinghoffer, András A; Nagy, Adrienne A; Kiss, András A; Semsei, Ágnes F ÁF; Temesi, Gergely G; Melegh, Béla B; Kisfali, Péter P; Széll, Márta M; Bikov, András A; Gálffy, Gabriella G; Tamási, Lilla L; Falus, András A; Szalai, Csaba C

Publication Date: 2012

Variant appearance in text: rs2905506

PubMed Link: 22432035

Variant Present in the following documents:

• pone.0033573.s005.xls, sheet 1

View BVdb publication page

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