Publications:

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: rs11641365

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis.

Brain Sciences

Lee, Jinhee J; Son, Min Ji MJ; Son, Chei Yun CY; Jeong, Gwang Hun GH; Lee, Keum Hwa KH; Lee, Kwang Seob KS; Ko, Younhee Y; Kim, Jong Yeob JY; Lee, Jun Young JY; Radua, Joaquim J; Eisenhut, Michael M; Gressier, Florence F; Koyanagi, Ai A; Stubbs, Brendon B; Solmi, Marco M; Rais, Theodor B TB; Kronbichler, Andreas A; Dragioti, Elena E; Vasconcelos, Daniel Fernando Pereira DFP; Silva, Felipe Rodolfo Pereira da FRPD; Tizaoui, Kalthoum K; Brunoni, André Russowsky AR; Carvalho, Andre F AF; Cargnin, Sarah S; Terrazzino, Salvatore S; Stickley, Andrew A; Smith, Lee L; Thompson, Trevor T; Shin, Jae Il JI; Fusar-Poli, Paolo P

Publication Date: 2020-09-30

Variant appearance in text: rs11641365

PubMed Link: 33007889

Variant Present in the following documents:

• Main text
• brainsci-10-00692.pdf

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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: rs11641365

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

Biological Psychiatry

Chaste, Pauline P; Klei, Lambertus L; Sanders, Stephan J SJ; Hus, Vanessa V; Murtha, Michael T MT; Lowe, Jennifer K JK; Willsey, A Jeremy AJ; Moreno-De-Luca, Daniel D; Yu, Timothy W TW; Fombonne, Eric E; Geschwind, Daniel D; Grice, Dorothy E DE; Ledbetter, David H DH; Mane, Shrikant M SM; Martin, Donna M DM; Morrow, Eric M EM; Walsh, Christopher A CA; Sutcliffe, James S JS; Lese Martin, Christa C; Beaudet, Arthur L AL; Lord, Catherine C; State, Matthew W MW; Cook, Edwin H EH; Devlin, Bernie B

Publication Date: 2015-05-01

Variant appearance in text: rs11641365

PubMed Link: 25534755

Variant Present in the following documents:

• Main text

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