Publications:

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A novel statistical method for interpreting the pathogenicity of rare variants.

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

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: G2752R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.

Investigative Ophthalmology & Visual Science

Koyanagi, Yoshito Y; Ueno, Shinji S; Ito, Yasuki Y; Kominami, Taro T; Komori, Shiori S; Akiyama, Masato M; Murakami, Yusuke Y; Ikeda, Yasuhiro Y; Sonoda, Koh-Hei KH; Terasaki, Hiroko H

Publication Date: 2020-08-03

Variant appearance in text: USH2A: Gly2752Arg

PubMed Link: 32749464

Variant Present in the following documents:

• Main text
• iovs-61-10-6.pdf

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Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.

Molecular Medicine Reports

Zhu, Xiong X; Li, Xiao X; Tian, Wanli W; Yang, Yeming Y; Sun, Kuanxiang K; Li, Shuzhen S; Zhu, Xianjun X

Publication Date: 2020-07

Variant appearance in text: USH2A: G2752R

PubMed Link: 32319668

Variant Present in the following documents:

• Main text
• mmr-22-01-0193.pdf

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Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.

Scientific Reports

Zhang, Qi Q; Xu, Mingchu M; Verriotto, Jennifer D JD; Li, Yumei Y; Wang, Hui H; Gan, Lin L; Lam, Byron L BL; Chen, Rui R

Publication Date: 2016-09-06

Variant appearance in text: USH2A: G2752R

PubMed Link: 27596865

Variant Present in the following documents:

• Main text
• srep32792.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: USH2A: G2752R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Scientific Reports

Perez-Carro, Raquel R; Corton, Marta M; Sánchez-Navarro, Iker I; Zurita, Olga O; Sanchez-Bolivar, Noelia N; Sánchez-Alcudia, Rocío R; Lelieveld, Stefan H SH; Aller, Elena E; Lopez-Martinez, Miguel Angel MA; López-Molina, Ma Isabel MI; Fernandez-San Jose, Patricia P; Blanco-Kelly, Fiona F; Riveiro-Alvarez, Rosa R; Gilissen, Christian C; Millan, Jose M JM; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2016-01-25

Variant appearance in text: USH2A: Gly2752Arg

PubMed Link: 26806561

Variant Present in the following documents:

• srep19531.pdf

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: USH2A: G2752R

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Orphanet Journal Of Rare Diseases

Bonnet, Crystel C; Grati, M'hamed M; Marlin, Sandrine S; Levilliers, Jacqueline J; Hardelin, Jean-Pierre JP; Parodi, Marine M; Niasme-Grare, Magali M; Zelenika, Diana D; Délépine, Marc M; Feldmann, Delphine D; Jonard, Laurence L; El-Amraoui, Aziz A; Weil, Dominique D; Delobel, Bruno B; Vincent, Christophe C; Dollfus, Hélène H; Eliot, Marie-Madeleine MM; David, Albert A; Calais, Catherine C; Vigneron, Jacqueline J; Montaut-Verient, Bettina B; Bonneau, Dominique D; Dubin, Jacques J; Thauvin, Christel C; Duvillard, Alain A; Francannet, Christine C; Mom, Thierry T; Lacombe, Didier D; Duriez, Françoise F; Drouin-Garraud, Valérie V; Thuillier-Obstoy, Marie-Françoise MF; Sigaudy, Sabine S; Frances, Anne-Marie AM; Collignon, Patrick P; Challe, Georges G; Couderc, Rémy R; Lathrop, Mark M; Sahel, José-Alain JA; Weissenbach, Jean J; Petit, Christine C; Denoyelle, Françoise F

Publication Date: 2011-05-11

Variant appearance in text: USH2: G2752R

PubMed Link: 21569298

Variant Present in the following documents:

• Main text
• 1750-1172-6-21.pdf

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