Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: USH2A: 6800C>T; Pro2267Leu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology

Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD

Publication Date: 2022-03-26

Variant appearance in text: rs397518027

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Genes

Van Heurck, Roxane R; Carminho-Rodrigues, Maria Teresa MT; Ranza, Emmanuelle E; Stafuzza, Caterina C; Quteineh, Lina L; Gehrig, Corinne C; Hammar, Eva E; Guipponi, Michel M; Abramowicz, Marc M; Senn, Pascal P; Guinand, Nils N; Cao-Van, Helene H; Paoloni-Giacobino, Ariane A

Publication Date: 2021-08-20

Variant appearance in text: USH2A: 6800C>T; Pro2267Leu

PubMed Link: 34440452

Variant Present in the following documents:

• Main text
• genes-12-01277.pdf

View BVdb publication page

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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

International Journal Of Molecular Sciences

Smirnov, Vasily V; Grunewald, Olivier O; Muller, Jean J; Zeitz, Christina C; Obermaier, Carolin D CD; Devos, Aurore A; Pelletier, Valérie V; Bocquet, Béatrice B; Andrieu, Camille C; Bacquet, Jean-Louis JL; Lebredonchel, Elodie E; Mohand-Saïd, Saddek S; Defoort-Dhellemmes, Sabine S; Sahel, José-Alain JA; Dollfus, Hélène H; Zanlonghi, Xavier X; Audo, Isabelle I; Meunier, Isabelle I; Boulanger-Scemama, Elise E; Dhaenens, Claire-Marie CM

Publication Date: 2021-06-15

Variant appearance in text: USH2A: 6800C>T; Pro2267Leu

PubMed Link: 34203883

Variant Present in the following documents:

• Main text
• ijms-22-06410.pdf

View BVdb publication page

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Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer.

Cancer Cell

Woolston, Andrew A; Khan, Khurum K; Spain, Georgia G; Barber, Louise J LJ; Griffiths, Beatrice B; Gonzalez-Exposito, Reyes R; Hornsteiner, Lisa L; Punta, Marco M; Patil, Yatish Y; Newey, Alice A; Mansukhani, Sonia S; Davies, Matthew N MN; Furness, Andrew A; Sclafani, Francesco F; Peckitt, Clare C; Jiménez, Mirta M; Kouvelakis, Kyriakos K; Ranftl, Romana R; Begum, Ruwaida R; Rana, Isma I; Thomas, Janet J; Bryant, Annette A; Quezada, Sergio S; Wotherspoon, Andrew A; Khan, Nasir N; Fotiadis, Nikolaos N; Marafioti, Teresa T; Powles, Thomas T; Lise, Stefano S; Calvo, Fernando F; Guettler, Sebastian S; von Loga, Katharina K; Rao, Sheela S; Watkins, David D; Starling, Naureen N; Chau, Ian I; Sadanandam, Anguraj A; Cunningham, David D; Gerlinger, Marco M

Publication Date: 2019-07-08

Variant appearance in text: USH2A: P2267L

PubMed Link: 31287991

Variant Present in the following documents:

• mmc3.xlsx, sheet 7

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: USH2A: P2267L

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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