GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Shoshana Revel-Vilk; Ela Shai; Ernest Turro; Nivin Jahshan; Esti Hi-Am; Galia Spectre; Hagit Daum; Yossef Kalish; Karina Althaus; Andreas Greinacher; Chaim Kaplinsky; Shai Izraeli; Rutendo Mapeta; Sri V.V. Deevi; Danuta Jarocha; Willem H. Ouwehand; Kate Downes; Mortimer Poncz; David Varon; Michele P. Lambert

doi:10.1182/blood-2018-04-845545

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Shoshana Revel-Vilk, Ela Shai, Ernest Turro, Nivin Jahshan, Esti Hi-Am, Galia Spectre, Hagit Daum, Yossef Kalish, Karina Althaus, Andreas Greinacher, Chaim Kaplinsky, Shai Izraeli, Rutendo Mapeta, Sri V.V. Deevi, Danuta Jarocha, Willem H. Ouwehand, Kate Downes, Mortimer Poncz, David Varon, Michele P. Lambert

Research output: Contribution to journal › Letter › peer-review

46 Scopus citations

Original language	English
Pages (from-to)	1851-1854
Number of pages	4
Journal	Blood
Volume	132
Issue number	17
DOIs	https://doi.org/10.1182/blood-2018-04-845545
State	Published - 25 Oct 2018
Externally published	Yes

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10.1182/blood-2018-04-845545

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Revel-Vilk, S., Shai, E., Turro, E., Jahshan, N., Hi-Am, E., Spectre, G., Daum, H., Kalish, Y., Althaus, K., Greinacher, A., Kaplinsky, C., Izraeli, S., Mapeta, R., Deevi, S. V. V., Jarocha, D., Ouwehand, W. H., Downes, K., Poncz, M., Varon, D., & Lambert, M. P. (2018). GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting. Blood, 132(17), 1851-1854. https://doi.org/10.1182/blood-2018-04-845545

@article{13632d6adb98414d9382a53cdd0c0e69,

title = "GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting",

author = "Shoshana Revel-Vilk and Ela Shai and Ernest Turro and Nivin Jahshan and Esti Hi-Am and Galia Spectre and Hagit Daum and Yossef Kalish and Karina Althaus and Andreas Greinacher and Chaim Kaplinsky and Shai Izraeli and Rutendo Mapeta and Deevi, {Sri V.V.} and Danuta Jarocha and Ouwehand, {Willem H.} and Kate Downes and Mortimer Poncz and David Varon and Lambert, {Michele P.}",

note = "Funding Information: The authors thank Sara Israels and Eileen McMillan-Ward (technician), Research Institute in Oncology and Hematology, University of Manitoba, Winnipeg, Manitoba, Canada, for their help in the interpretation of the platelet electron microscopic images of F1. Funding for the NIHR BioResource sequencing project was provided by the National Institute for Health Research (NIHR; grant RG65966). The NIHR BioResource projects were approved by Research Ethics Committees in the United Kingdom and appropriate national ethics authorities in non-UK enrollment centers. This study makes use of data generated by the NIHR BioResource. A full list of investigators who contributed to the generation of the data is available at https://bioresource.nihr.ac.uk/researchers/researchers/acknowledgement/.",

year = "2018",

month = oct,

day = "25",

doi = "10.1182/blood-2018-04-845545",

language = "English",

volume = "132",

pages = "1851--1854",

journal = "Blood",

issn = "0006-4971",

publisher = "Elsevier B.V.",

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Revel-Vilk, S, Shai, E, Turro, E, Jahshan, N, Hi-Am, E, Spectre, G, Daum, H, Kalish, Y, Althaus, K, Greinacher, A, Kaplinsky, C, Izraeli, S, Mapeta, R, Deevi, SVV, Jarocha, D, Ouwehand, WH, Downes, K, Poncz, M, Varon, D & Lambert, MP 2018, 'GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting', Blood, vol. 132, no. 17, pp. 1851-1854. https://doi.org/10.1182/blood-2018-04-845545

TY - JOUR

T1 - GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

AU - Revel-Vilk, Shoshana

AU - Shai, Ela

AU - Turro, Ernest

AU - Jahshan, Nivin

AU - Hi-Am, Esti

AU - Spectre, Galia

AU - Daum, Hagit

AU - Kalish, Yossef

AU - Althaus, Karina

AU - Greinacher, Andreas

AU - Kaplinsky, Chaim

AU - Izraeli, Shai

AU - Mapeta, Rutendo

AU - Deevi, Sri V.V.

AU - Jarocha, Danuta

AU - Ouwehand, Willem H.

AU - Downes, Kate

AU - Poncz, Mortimer

AU - Varon, David

AU - Lambert, Michele P.

N1 - Funding Information: The authors thank Sara Israels and Eileen McMillan-Ward (technician), Research Institute in Oncology and Hematology, University of Manitoba, Winnipeg, Manitoba, Canada, for their help in the interpretation of the platelet electron microscopic images of F1. Funding for the NIHR BioResource sequencing project was provided by the National Institute for Health Research (NIHR; grant RG65966). The NIHR BioResource projects were approved by Research Ethics Committees in the United Kingdom and appropriate national ethics authorities in non-UK enrollment centers. This study makes use of data generated by the NIHR BioResource. A full list of investigators who contributed to the generation of the data is available at https://bioresource.nihr.ac.uk/researchers/researchers/acknowledgement/.

PY - 2018/10/25

Y1 - 2018/10/25

UR - http://www.scopus.com/inward/record.url?scp=85055528495&partnerID=8YFLogxK

U2 - 10.1182/blood-2018-04-845545

DO - 10.1182/blood-2018-04-845545

M3 - Letter

C2 - 30171045

AN - SCOPUS:85055528495

SN - 0006-4971

VL - 132

SP - 1851

EP - 1854

JO - Blood

JF - Blood

IS - 17

ER -