Publications:

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Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Annals Of Hematology

Stockklausner, Clemens C; Duffert, C M CM; Cario, H H; Knöfler, R R; Streif, W W; Kulozik, A E AE; ,

Publication Date: 2021-07

Variant appearance in text: JAK2: H608N

PubMed Link: 33712866

Variant Present in the following documents:

• Main text
• 277_2021_Article_4485.pdf

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Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.

Hematology. American Society Of Hematology. Education Program

McMullin, Mary Frances MF

Publication Date: 2019-12-06

Variant appearance in text: JAK2: His608Asn

PubMed Link: 31808840

Variant Present in the following documents:

• Main text

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: JAK2: 1822C>A; His608Asn

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s2.xlsx, sheet 9
• bty518_supplementary_data_s6.xlsx, sheet 9

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Germline JAK2 L611S mutation in a child with thrombocytosis.

Haematologica

Aral, Bernard B; Courtois, Martine M; Ragot, Sylviane S; Bourgeois, Valentin V; Bottolier-Lemallaz, Elodie E; Briandet, Claire C; Girodon, François F

Publication Date: 2018-08

Variant appearance in text: JAK2: H608N

PubMed Link: 29567786

Variant Present in the following documents:

• Main text

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Identification of MPL R102P Mutation in Hereditary Thrombocytosis.

Frontiers In Endocrinology

Bellanné-Chantelot, Christine C; Mosca, Matthieu M; Marty, Caroline C; Favier, Rémi R; Vainchenker, William W; Plo, Isabelle I

Publication Date: 2017

Variant appearance in text: JAK2: H608N

PubMed Link: 28979237

Variant Present in the following documents:

• Main text

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Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.

Frontiers In Endocrinology

Plo, Isabelle I; Bellanné-Chantelot, Christine C; Mosca, Matthieu M; Mazzi, Stefania S; Marty, Caroline C; Vainchenker, William W

Publication Date: 2017

Variant appearance in text: JAK2: H608N

PubMed Link: 28955303

Variant Present in the following documents:

• Main text
• fendo-08-00234.pdf

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Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.

Blood

Rumi, Elisa E; Cazzola, Mario M

Publication Date: 2017-02-09

Variant appearance in text: JAK2: H608N

PubMed Link: 28028026

Variant Present in the following documents:

• Main text

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Genomic landscape of megakaryopoiesis and platelet function defects.

Blood

Bianchi, Elisa E; Norfo, Ruggiero R; Pennucci, Valentina V; Zini, Roberta R; Manfredini, Rossella R

Publication Date: 2016-03-10

Variant appearance in text: JAK2: H608N

PubMed Link: 26787733

Variant Present in the following documents:

• Main text

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Back to biology: new insights on inheritance in myeloproliferative disorders.

Current Hematologic Malignancy Reports

Braunstein, Evan M EM; Moliterno, Alison R AR

Publication Date: 2014-12

Variant appearance in text: JAK2: H608N

PubMed Link: 25195195

Variant Present in the following documents:

• Main text

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Inherited predisposition to myeloproliferative neoplasms.

Therapeutic Advances In Hematology

Jones, Amy V AV; Cross, Nicholas C P NC

Publication Date: 2013-08

Variant appearance in text: JAK2: H608N

PubMed Link: 23926457

Variant Present in the following documents:

• Main text

View BVdb publication page

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