Publications:

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GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data.

Genes

Neubauer, Jonas J; Hahn, Leo L; Birtel, Johannes J; Boon, Camiel J F CJF; Charbel Issa, Peter P; Fischer, M Dominik MD

Publication Date: 2022-02-08

Variant appearance in text: GUCY2D: P575L

PubMed Link: 35205358

Variant Present in the following documents:

• genes-13-00313.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: GUCY2D: P575L

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 63

View BVdb publication page

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Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.

The British Journal Of Ophthalmology

Gill, Jasdeep S JS; Georgiou, Michalis M; Kalitzeos, Angelos A; Moore, Anthony T AT; Michaelides, Michel M

Publication Date: 2019-01-24

Variant appearance in text: GUCY2D: P575L

PubMed Link: 30679166

Variant Present in the following documents:

• bjophthalmol-2018-313278supp001.pdf

View BVdb publication page

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Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Bmc Ophthalmology

Wang, Xinjing X; Zein, Wadih M WM; D'Souza, Leera L; Roberson, Chimere C; Wetherby, Keith K; He, Hong H; Villarta, Angela A; Turriff, Amy A; Johnson, Kory R KR; Fann, Yang C YC

Publication Date: 2017-08-24

Variant appearance in text: GUCY2D: P575L; rs28743021

PubMed Link: 28838317

Variant Present in the following documents:

• Main text
• 12886_2017_549_MOESM4_ESM.pdf
• 12886_2017_Article_549.pdf
• 12886_2017_549_MOESM3_ESM.pdf

View BVdb publication page

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Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Investigative Ophthalmology & Visual Science

Roberts, Lisa L; Ratnapriya, Rinki R; du Plessis, Morné M; Chaitankar, Vijender V; Ramesar, Raj S RS; Swaroop, Anand A

Publication Date: 2016-11-01

Variant appearance in text: GUCY2D: P575L

PubMed Link: 27898983

Variant Present in the following documents:

• iovs-57-14-17_s03.xlsx, sheet 1

View BVdb publication page

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Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.

Molecular Vision

Abdulridha-Aboud, Wissam W; Kjellström, Ulrika U; Andréasson, Sten S; Ponjavic, Vesna V

Publication Date: 2016

Variant appearance in text: GUCY2D: P575L

PubMed Link: 27212874

Variant Present in the following documents:

• mv-v22-362.pdf

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Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations.

Frontiers In Molecular Neuroscience

Zägel, Patrick P; Koch, Karl-Wilhelm KW

Publication Date: 2014

Variant appearance in text: ROS-GC1: P575L

PubMed Link: 24616660

Variant Present in the following documents:

• Main text
• fnmol-07-00004.pdf

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: GUCY2D: P575L

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.

Molecular Vision

Zhao, Xin X; Ren, Yanfan Y; Zhang, Xiaohui X; Chen, Changxi C; Dong, Bing B; Li, Yang Y

Publication Date: 2013

Variant appearance in text: GUCY2D: P575L

PubMed Link: 23734073

Variant Present in the following documents:

• mv-v19-1039.pdf

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A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.

Molecular Vision

Xiao, Xueshan X; Guo, Xiangming X; Jia, Xiaoyun X; Li, Shiqiang S; Wang, Panfeng P; Zhang, Qingjiong Q

Publication Date: 2011

Variant appearance in text: GUCY2D: P575L

PubMed Link: 22194653

Variant Present in the following documents:

• Main text
• mv-v17-3271.pdf

View BVdb publication page

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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Human Mutation

Coppieters, Frauke F; Casteels, Ingele I; Meire, Françoise F; De Jaegere, Sarah S; Hooghe, Sally S; van Regemorter, Nicole N; Van Esch, Hilde H; Matuleviciene, Ausra A; Nunes, Luis L; Meersschaut, Valérie V; Walraedt, Sophie S; Standaert, Lieve L; Coucke, Paul P; Hoeben, Heidi H; Kroes, Hester Y HY; Vande Walle, Johan J; de Ravel, Thomy T; Leroy, Bart P BP; De Baere, Elfride E

Publication Date: 2010-10

Variant appearance in text: GUCY2D: 1724C>T; Pro575Leu

PubMed Link: 20683928

Variant Present in the following documents:

• Main text
• humu0031-E1709.pdf

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