Publications:

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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: JAK2: 1009A>G; Asn337Asp; rs149683525

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: JAK2: N337D

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Identification of a JAK2 FERM Domain Variant Associated With Hereditary Thrombocytosis.

Hemasphere

Müller, Jan J; Porret, Naomi Azur NA; Rüfer, Axel A

Publication Date: 2021-08

Variant appearance in text: JAK2: N337D

PubMed Link: 34350386

Variant Present in the following documents:

• Main text
• hs9-5-e626.pdf

View BVdb publication page

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Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.

Clinical Rheumatology

Fritz, Daan D; Ferwerda, Bart B; Brouwer, Matthijs C MC; van de Beek, Diederik D

Publication Date: 2021-09

Variant appearance in text: rs149683525

PubMed Link: 33903979

Variant Present in the following documents:

• Main text

View BVdb publication page

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p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.

Haematologica

Eder-Azanza, Laura L; Hurtado, Cristina C; Navarro-Herrera, David D; Aranaz, Paula P; Novo, Francisco J FJ; Vizmanos, José L JL

Publication Date: 2017-08

Variant appearance in text: JAK2: N337D; rs149683525

PubMed Link: 28473624

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: JAK2: N337D; rs149683525

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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