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: MSH2: G315D; rs202026056

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Investigation of the Defective Growth Pattern and Multidrug Resistance in a Clinical Isolate of Candida glabrata Using Whole-Genome Sequencing and Computational Biology Applications.

Microbiology Spectrum

Merdan, Osman O; Şişman, Ayşe Sena AS; Aksoy, Seçil Ak SA; Kızıl, Samet S; Tüzemen, Nazmiye Ülkü NÜ; Yılmaz, Emel E; Ener, Beyza B

Publication Date: 2022-08-31

Variant appearance in text: MSH2: G315D

PubMed Link: 35867406

Variant Present in the following documents:

• Main text
• spectrum.00776-22.pdf

View BVdb publication page

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Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: MSH2: 944G>A

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.

Hereditary Cancer In Clinical Practice

Rashid, Muhammad Usman MU; Naeemi, Humaira H; Muhammad, Noor N; Loya, Asif A; Lubiński, Jan J; Jakubowska, Anna A; Yusuf, Muhammed Aasim MA

Publication Date: 2019

Variant appearance in text: rs202026056

PubMed Link: 31660093

Variant Present in the following documents:

• Main text

View BVdb publication page

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Low Level of Antifungal Resistance in Iranian Isolates of Candida glabrata Recovered from Blood Samples in a Multicenter Study from 2015 to 2018 and Potential Prognostic Values of Genotyping and Sequencing of PDR1.

Antimicrobial Agents And Chemotherapy

Arastehfar, Amir A; Daneshnia, Farnaz F; Zomorodian, Kamiar K; Najafzadeh, Mohammad Javad MJ; Khodavaisy, Sadegh S; Zarrinfar, Hossein H; Hagen, Ferry F; Zare Shahrabadi, Zahra Z; Lackner, Michaela M; Mirhendi, Hossein H; Salehi, Mohammadreza M; Roudbary, Maryam M; Pan, Weihua W; Kostrzewa, Markus M; Boekhout, Teun T

Publication Date: 2019-07

Variant appearance in text: MSH2: G315D

PubMed Link: 30936110

Variant Present in the following documents:

• Main text
• AAC.02503-18.pdf

View BVdb publication page

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Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults.

Molecular Genetics & Genomic Medicine

Pillar, Nir N; Isakov, Ofer O; Weissglas-Volkov, Daphna D; Botchan, Shay S; Friedman, Eitan E; Arber, Nadir N; Shomron, Noam N

Publication Date: 2015-09

Variant appearance in text: rs202026056

PubMed Link: 26436109

Variant Present in the following documents:

• Main text
• mgg30003-0433.pdf

View BVdb publication page

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