Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: DNAH11: M1096I; rs575775297

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.

Genes

Toro, Mariana Dalbo Contrera MDC; Ribeiro, José Dirceu JD; Marson, Fernando Augusto Lima FAL; Ortiz, Érica É; Toro, Adyléia Aparecida Dalbo Contrera AADC; Bertuzzo, Carmen Silvia CS; Jones, Marcus Herbert MH; Sakano, Eulália E

Publication Date: 2022-07-15

Variant appearance in text: DNAH11: 3288G>A; Met1096Ile; rs575775297

PubMed Link: 35886035

Variant Present in the following documents:

• genes-13-01252.pdf

View BVdb publication page

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The Genetics of Primary Ciliary Dyskinesia in Puerto Rico.

Diagnostics (Basel, Switzerland)

De Jesús-Rojas, Wilfredo W; Muñiz-Hernández, José J; Alvarado-Huerta, Francisco F; Meléndez-Montañez, Jesús M JM; Santos-López, Arnaldo J AJ; Mosquera, Ricardo A RA

Publication Date: 2022-05-02

Variant appearance in text: DNAH11: 3288G>A; Met1096Ile

PubMed Link: 35626283

Variant Present in the following documents:

• Main text
• diagnostics-12-01127.pdf

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: DNAH11: M1096I

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation.

Diagnostics (Basel, Switzerland)

De Jesús-Rojas, Wilfredo W; Reyes-De Jesús, Dalilah D; Mosquera, Ricardo A RA

Publication Date: 2021-02-11

Variant appearance in text: DNAH11: 3288G>A; Met1096Ile

PubMed Link: 33670432

Variant Present in the following documents:

• Main text
• diagnostics-11-00281.pdf

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: DNAH11: M1096I

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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