Publications:

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: JAK2: D146N; rs1299892808

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.

Human Reproduction (Oxford, England)

Bestetti, I I; Barbieri, C C; Sironi, A A; Specchia, V V; Yatsenko, S A SA; De Donno, M D MD; Caslini, C C; Gentilini, D D; Crippa, M M; Larizza, L L; Marozzi, A A; Rajkovic, A A; Toniolo, D D; Bozzetti, M P MP; Finelli, P P

Publication Date: 2021-10-18

Variant appearance in text: JAK2: D146N; rs1299892808

PubMed Link: 34480478

Variant Present in the following documents:

• Main text
• deab192.pdf

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Clinical application of whole transcriptome sequencing for the classification of patients with acute lymphoblastic leukemia.

Bmc Cancer

Walter, Wencke W; Shahswar, Rabia R; Stengel, Anna A; Meggendorfer, Manja M; Kern, Wolfgang W; Haferlach, Torsten T; Haferlach, Claudia C

Publication Date: 2021-08-02

Variant appearance in text: JAK2: 436G>A

PubMed Link: 34340673

Variant Present in the following documents:

• 12885_2021_8635_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page