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: rs1981483

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: PIGQ: 1417-193G>A; rs1981483

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.

Nature Communications

Bjornsdottir, Gyda G; Benonisdottir, Stefania S; Sveinbjornsson, Gardar G; Styrkarsdottir, Unnur U; Thorleifsson, Gudmar G; Walters, G Bragi GB; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Vikingsson, Arnor A; Hansdottir, Ragnheidur R; Karlsson, Karl O KO; Rafnar, Thorunn T; Jonsdottir, Ingileif I; Frigge, Michael L ML; Kong, Augustine A; Oddsson, Asmundur A; Masson, Gisli G; Magnusson, Olafur T OT; Gudbjartsson, Tomas T; Stefansson, Hreinn H; Sulem, Patrick P; Gudbjartsson, Daniel D; Thorsteinsdottir, Unnur U; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K

Publication Date: 2017-02-22

Variant appearance in text: rs1981483

PubMed Link: 28223688

Variant Present in the following documents:

• ncomms14265-s1.pdf

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Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.

Annals Of The Rheumatic Diseases

Williams, Frances M K FM; Bansal, Aruna T AT; van Meurs, Joyce B JB; Bell, Jordana T JT; Meulenbelt, Ingrid I; Suri, Pradeep P; Rivadeneira, Fernando F; Sambrook, Philip N PN; Hofman, Albert A; Bierma-Zeinstra, Sita S; Menni, Cristina C; Kloppenburg, Margreet M; Slagboom, P Eline PE; Hunter, David J DJ; MacGregor, Alex J AJ; Uitterlinden, Andre G AG; Spector, Tim D TD

Publication Date: 2013-07

Variant appearance in text: rs1981483

PubMed Link: 22993228

Variant Present in the following documents:

• Main text
• annrheumdis-2012-201551.pdf

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