Publications:

Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.

Peerj

Shahid, Muhammad M; Azfaralariff, Ahmad A; Tufail, Muhammad M; Hussain Khan, Nazeer N; Abdulkareem Najm, Ahmed A; Firasat, Sabika S; Zubair, Muhammad M; Fazry, Shazrul S; Law, Douglas D

Publication Date: 2022

Variant appearance in text: rs72481807

PubMed Link: 36518267

Variant Present in the following documents:

• peerj-10-14132-s001.xlsx, sheet 7
• peerj-10-14132-s001.xlsx, sheet 3

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CYP1B1: E173X

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

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Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma.

Plos One

Medina-Trillo, Cristina C; Aroca-Aguilar, José-Daniel JD; Ferre-Fernández, Jesús-José JJ; Alexandre-Moreno, Susana S; Morales, Laura L; Méndez-Hernández, Carmen-Dora CD; García-Feijoo, Julián J; Escribano, Julio J

Publication Date: 2019

Variant appearance in text: CYP1B1: 517G>T; E173*

PubMed Link: 30657791

Variant Present in the following documents:

• Main text
• pone.0211029.pdf

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Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Journal Of Current Glaucoma Practice

Faiq, Muneeb M; Sharma, Reetika R; Dada, Rima R; Mohanty, Kuldeep K; Saluja, Daman D; Dada, Tanuj T

Publication Date: 2013

Variant appearance in text: CYP1B1: E173X

PubMed Link: 26997785

Variant Present in the following documents:

• Main text
• jocgp-07-066.pdf

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CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Molecular Vision

Campos-Mollo, Ezequiel E; López-Garrido, María-Pilar MP; Blanco-Marchite, Cristina C; Garcia-Feijoo, Julián J; Peralta, Jesús J; Belmonte-Martínez, José J; Ayuso, Carmen C; Escribano, Julio J

Publication Date: 2009

Variant appearance in text: CYP1B1: E173X

PubMed Link: 19234632

Variant Present in the following documents:

• Main text
• mv-v15-417.pdf

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