Publications:

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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Npj Genomic Medicine

Schlottmann, Patricio G PG; Luna, José D JD; Labat, Natalia N; Yadarola, María Belén MB; Bainttein, Silvina S; Esposito, Evangelina E; Ibañez, Agustina A; Barbaro, Evangelina Ivón EI; Álvarez Mendiara, Alejandro A; Picotti, Carolina P CP; Chirino Misisian, Andrea A; Andreussi, Luciana L; Gras, Julieta J; Capalbo, Luciana L; Visotto, Mauro M; Dipierri, José E JE; Alcoba, Emilio E; Fernández Gabrielli, Laura L; Ávila, Silvia S; Aucar, María Emilia ME; Martin, Daniel M DM; Ormaechea, Gerardo Juan GJ; Inga, M Eugenia ME; Francone, Aníbal A AA; Charles, Martin M; Zompa, Tamara T; Pérez, Pablo Javier PJ; Lotersztein, Vanesa V; Nuova, Pedro J PJ; Canonero, Ivana B IB; Mahroo, Omar A OA; Michaelides, Michel M; Arno, Gavin G; Daich Varela, Malena M

Publication Date: 2023-05-22

Variant appearance in text: EYS: 6794del; Pro2265Glnfs*46

PubMed Link: 37217489

Variant Present in the following documents:

• 41525_2023_352_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology

Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S

Publication Date: 2023

Variant appearance in text: EYS: 6794del; Pro2265Glnfs*46

PubMed Link: 36819107

Variant Present in the following documents:

• Table4.xlsx, sheet 1

View BVdb publication page

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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: EYS: 6794delC; rs758109813

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.

American Journal Of Ophthalmology

Georgiou, Michalis M; Grewal, Parampal S PS; Narayan, Akshay A; Alser, Muath M; Ali, Naser N; Fujinami, Kaoru K; Webster, Andrew R AR; Michaelides, Michel M

Publication Date: 2021-01

Variant appearance in text: EYS: 6794delC; Pro2265Glnfs

PubMed Link: 32795431

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: EYS: 6794delC

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: EYS: 6794delC; Pro2265fs; rs758109813

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

American Journal Of Ophthalmology

Sengillo, Jesse D JD; Lee, Winston W; Nagasaki, Takayuki T; Schuerch, Kaspar K; Yannuzzi, Lawrence A LA; Freund, K Bailey KB; Sparrow, Janet R JR; Allikmets, Rando R; Tsang, Stephen H SH

Publication Date: 2018-06

Variant appearance in text: EYS: 6794delC; Pro2265Glnfs*46; rs758109813

PubMed Link: 29550188

Variant Present in the following documents:

• Main text

View BVdb publication page

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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Consugar, Mark B MB; Navarro-Gomez, Daniel D; Place, Emily M EM; Bujakowska, Kinga M KM; Sousa, Maria E ME; Fonseca-Kelly, Zoë D ZD; Taub, Daniel G DG; Janessian, Maria M; Wang, Dan Yi DY; Au, Elizabeth D ED; Sims, Katherine B KB; Sweetser, David A DA; Fulton, Anne B AB; Liu, Qin Q; Wiggs, Janey L JL; Gai, Xiaowu X; Pierce, Eric A EA

Publication Date: 2015-04

Variant appearance in text: EYS: 6794delC; Pro2265Glnfs*46

PubMed Link: 25412400

Variant Present in the following documents:

• NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls, sheet 1

View BVdb publication page

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