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: rs587198

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_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: PRKCQ: 790+2496G>A; rs587198

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy.

Scientific Reports

Carmona, F David FD; Coit, Patrick P; Saruhan-Direskeneli, Güher G; Hernández-Rodríguez, José J; Cid, María C MC; Solans, Roser R; Castañeda, Santos S; Vaglio, Augusto A; Direskeneli, Haner H; Merkel, Peter A PA; Boiardi, Luigi L; Salvarani, Carlo C; González-Gay, Miguel A MA; Martín, Javier J; Sawalha, Amr H AH; , ; , ; , ; ,

Publication Date: 2017-03-09

Variant appearance in text: rs587198

PubMed Link: 28277489

Variant Present in the following documents:

• Main text
• srep43953.pdf

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A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.

American Journal Of Human Genetics

Carmona, F David FD; Mackie, Sarah L SL; Martín, Jose-Ezequiel JE; Taylor, John C JC; Vaglio, Augusto A; Eyre, Stephen S; Bossini-Castillo, Lara L; Castañeda, Santos S; Cid, Maria C MC; Hernández-Rodríguez, José J; Prieto-González, Sergio S; Solans, Roser R; Ramentol-Sintas, Marc M; González-Escribano, M Francisca MF; Ortiz-Fernández, Lourdes L; Morado, Inmaculada C IC; Narváez, Javier J; Miranda-Filloy, José A JA; , ; Beretta, Lorenzo L; Lunardi, Claudio C; Cimmino, Marco A MA; Gianfreda, Davide D; Santilli, Daniele D; Ramirez, Giuseppe A GA; Soriano, Alessandra A; Muratore, Francesco F; Pazzola, Giulia G; Addimanda, Olga O; Wijmenga, Cisca C; Witte, Torsten T; Schirmer, Jan H JH; Moosig, Frank F; Schönau, Verena V; Franke, Andre A; Palm, Øyvind Ø; Molberg, Øyvind Ø; Diamantopoulos, Andreas P AP; Carette, Simon S; Cuthbertson, David D; Forbess, Lindsy J LJ; Hoffman, Gary S GS; Khalidi, Nader A NA; Koening, Curry L CL; Langford, Carol A CA; McAlear, Carol A CA; Moreland, Larry L; Monach, Paul A PA; Pagnoux, Christian C; Seo, Philip P; Spiera, Robert R; Sreih, Antoine G AG; Warrington, Kenneth J KJ; Ytterberg, Steven R SR; Gregersen, Peter K PK; Pease, Colin T CT; Gough, Andrew A; Green, Michael M; Hordon, Lesley L; Jarrett, Stephen S; Watts, Richard R; Levy, Sarah S; Patel, Yusuf Y; Kamath, Sanjeet S; Dasgupta, Bhaskar B; Worthington, Jane J; Koeleman, Bobby P C BP; de Bakker, Paul I W PI; Barrett, Jennifer H JH; Salvarani, Carlo C; Merkel, Peter A PA; González-Gay, Miguel A MA; Morgan, Ann W AW; Martín, Javier J

Publication Date: 2015-04-02

Variant appearance in text: rs587198

PubMed Link: 25817017

Variant Present in the following documents:

• Main text

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