Publications:

A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.

International Journal Of Molecular Sciences

Martín-Sánchez, Marta M; Bravo-Gil, Nereida N; González-Del Pozo, María M; Méndez-Vidal, Cristina C; Fernández-Suárez, Elena E; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2020-12-08

Variant appearance in text: ABCA4: 2299delG

PubMed Link: 33302505

Variant Present in the following documents:

• ijms-21-09355.pdf

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Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Molecular Genetics & Genomic Medicine

Zenteno, Juan C JC; García-Montaño, Leopoldo A LA; Cruz-Aguilar, Marisa M; Ronquillo, Josué J; Rodas-Serrano, Agustín A; Aguilar-Castul, Luis L; Matsui, Rodrigo R; Vencedor-Meraz, Carlos I CI; Arce-González, Rocío R; Graue-Wiechers, Federico F; Gutiérrez-Paz, Mario M; Urrea-Victoria, Tatiana T; de Dios Cuadras, Ulises U; Chacón-Camacho, Oscar F OF

Publication Date: 2020-01

Variant appearance in text: ABCA4: 2299delG

PubMed Link: 31736247

Variant Present in the following documents:

• MGG3-8-0-s001.pdf

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CDHR1 mutations in retinal dystrophies.

Scientific Reports

Stingl, Katarina K; Mayer, Anja K AK; Llavona, Pablo P; Mulahasanovic, Lejla L; Rudolph, Günther G; Jacobson, Samuel G SG; Zrenner, Eberhart E; Kohl, Susanne S; Wissinger, Bernd B; Weisschuh, Nicole N

Publication Date: 2017-08-01

Variant appearance in text: ABCA4: 2299delG

PubMed Link: 28765526

Variant Present in the following documents:

• 41598_2017_Article_7117.pdf

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Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ophthalmology

Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; Williams, Simon G SG; Sergouniotis, Panagiotis I PI; O'Sullivan, James J; Lamb, Janine A JA; Perveen, Rahat R; Hall, Georgina G; Newman, William G WG; Bishop, Paul N PN; Roberts, Stephen A SA; Leach, Rick R; Tearle, Rick R; Bayliss, Stuart S; Ramsden, Simon C SC; Nemeth, Andrea H AH; Black, Graeme C M GC

Publication Date: 2016-05

Variant appearance in text: ABCA4: 2299delG

PubMed Link: 26872967

Variant Present in the following documents:

• mmc8.pdf

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