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: rs7980903

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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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: rs7980903

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_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: LRP6: 3398-170G>A; rs7980903

PubMed Link: 30319441

Variant Present in the following documents:

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

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Low density lipoprotein receptor related protein 1 and 6 gene variants and ischaemic stroke risk.

European Journal Of Neurology

Harriott, A M AM; Heckman, M G MG; Rayaprolu, S S; Soto-Ortolaza, A I AI; Diehl, N N NN; Kanekiyo, T T; Liu, C-C CC; Bu, G G; Malik, R R; , ; Cole, J W JW; Meschia, J F JF; Ross, O A OA

Publication Date: 2015-08

Variant appearance in text: rs7980903

PubMed Link: 26031789

Variant Present in the following documents:

• Main text

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A common variant in low-density lipoprotein receptor-related protein 6 gene (LRP6) is associated with LDL-cholesterol.

Arteriosclerosis, Thrombosis, And Vascular Biology

Tomaszewski, Maciej M; Charchar, Fadi J FJ; Barnes, Timothy T; Gawron-Kiszka, Magdalena M; Sedkowska, Agnieszka A; Podolecka, Ewa E; Kowalczyk, Jacek J; Rathbone, Wendy W; Kalarus, Zbigniew Z; Grzeszczak, Wladyslaw W; Goodall, Alison H AH; Samani, Nilesh J NJ; Zukowska-Szczechowska, Ewa E

Publication Date: 2009-09

Variant appearance in text: rs7980903

PubMed Link: 19667113

Variant Present in the following documents:

• Main text

View BVdb publication page