Publications:

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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: rs11176143

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Brain : A Journal Of Neurology

Tan, Manuela M X MMX; Malek, Naveed N; Lawton, Michael A MA; Hubbard, Leon L; Pittman, Alan M AM; Joseph, Theresita T; Hehir, Jason J; Swallow, Diane M A DMA; Grosset, Katherine A KA; Marrinan, Sarah L SL; Bajaj, Nin N; Barker, Roger A RA; Burn, David J DJ; Bresner, Catherine C; Foltynie, Thomas T; Hardy, John J; Wood, Nicholas N; Ben-Shlomo, Yoav Y; Grosset, Donald G DG; Williams, Nigel M NM; Morris, Huw R HR

Publication Date: 2019-09-01

Variant appearance in text: rs11176143

PubMed Link: 31324919

Variant Present in the following documents:

• awz191_supplementary_data.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: LRRK2: 6381+52G>A; rs11176143

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population.

Parkinsonism & Related Disorders

Cilia, Roberto R; Siri, Chiara C; Rusconi, Damiana D; Allegra, Roberta R; Ghiglietti, Andrea A; Sacilotto, Giorgio G; Zini, Michela M; Zecchinelli, Anna L AL; Asselta, Rosanna R; Duga, Stefano S; Paganoni, Anna M AM; Pezzoli, Gianni G; Seia, Manuela M; Goldwurm, Stefano S

Publication Date: 2014-08

Variant appearance in text: rs11176143

PubMed Link: 24816003

Variant Present in the following documents:

View BVdb publication page

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Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics

Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH

Publication Date: 2009-07

Variant appearance in text: rs11176143

PubMed Link: 19489756

Variant Present in the following documents:

• Main text

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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

Parkinsonism & Related Disorders

Ross, Owen A OA; Spanaki, Cleanthe C; Griffith, Alida A; Lin, Chin-Hsien CH; Kachergus, Jennifer J; Haugarvoll, Kristoffer K; Latsoudis, Helen H; Plaitakis, Andreas A; Ferreira, Joaquim J JJ; Sampaio, Cristina C; Bonifati, Vincenzo V; Wu, Ruey-Meei RM; Zabetian, Cyrus P CP; Farrer, Matthew J MJ

Publication Date: 2009-07

Variant appearance in text: rs11176143

PubMed Link: 18952485

Variant Present in the following documents:

• Main text

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Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.

Neuroscience Letters

Perez-Pastene, Carolina C; Cobb, Stephanie A SA; Díaz-Grez, Fernando F; Hulihan, Mary M MM; Miranda, Marcelo M; Venegas, Pablo P; Godoy, Osvaldo Trujillo OT; Kachergus, Jennifer M JM; Ross, Owen A OA; Layson, Luis L; Farrer, Matthew J MJ; Segura-Aguilar, Juan J

Publication Date: 2007-07-18

Variant appearance in text: rs11176143

PubMed Link: 17614198

Variant Present in the following documents:

• Main text

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