Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Kate Downes; Karyn Megy; Daniel Duarte; Minka Vries; Johanna Gebhart; Stefanie Hofer; Olga Shamardina; Sri V. V. Deevi; Jonathan Stephens; Rutendo Mapeta; Salih Tuna; Namir Al Hasso; Martin W. Besser; Nichola Cooper; Louise Daugherty; Nick Gleadall; Daniel Greene; Matthias Haimel; Howard Martin; Sofia Papadia; Shoshana Revel-Vilk; Suthesh Sivapalaratnam; Emily Symington; Will Thomas; Chantal Thys; Alexander Tolios; Christopher J. Penkett; Willem H. Ouwehand; Stephen Abbs; Michael A. Laffan; Ernest Turro; Ilenia Simeoni; Andrew D. Mumford; Yvonne M. C. Henskens; Ingrid Pabinger; Keith Gomez; Kathleen Freson; NIHR BioResource

doi:10.1182/blood.2018891192

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Kate Downes^*, Karyn Megy, Daniel Duarte, Minka Vries, Johanna Gebhart, Stefanie Hofer, Olga Shamardina, Sri V. V. Deevi, Jonathan Stephens, Rutendo Mapeta, Salih Tuna, Namir Al Hasso, Martin W. Besser, Nichola Cooper, Louise Daugherty, Nick Gleadall, Daniel Greene, Matthias Haimel, Howard Martin, Sofia PapadiaShoshana Revel-Vilk, Suthesh Sivapalaratnam, Emily Symington, Will Thomas, Chantal Thys, Alexander Tolios, Christopher J. Penkett, Willem H. Ouwehand, Stephen Abbs, Michael A. Laffan, Ernest Turro, Ilenia Simeoni, Andrew D. Mumford, Yvonne M. C. Henskens, Ingrid Pabinger, Keith Gomez, Kathleen Freson, NIHR BioResource

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

72 Citations (Web of Science)

Original language	English
Pages (from-to)	2082-2091
Number of pages	10
Journal	Blood
Volume	134
Issue number	23
DOIs	https://doi.org/10.1182/blood.2018891192
Publication status	Published - 5 Dec 2019

Keywords

GENETIC DIAGNOSIS
INHERITED THROMBOCYTOPENIA
VARIANTS
MUTATION
BIOBANK
DYSFUNCTION

Access to Document

10.1182/blood.2018891192

Cite this

Downes, K., Megy, K., Duarte, D., Vries, M., Gebhart, J., Hofer, S., Shamardina, O., Deevi, S. V. V., Stephens, J., Mapeta, R., Tuna, S., Al Hasso, N., Besser, M. W., Cooper, N., Daugherty, L., Gleadall, N., Greene, D., Haimel, M., Martin, H., ... NIHR BioResource (2019). Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Blood, 134(23), 2082-2091. https://doi.org/10.1182/blood.2018891192

Downes, Kate ; Megy, Karyn ; Duarte, Daniel ; Vries, Minka ; Gebhart, Johanna ; Hofer, Stefanie ; Shamardina, Olga ; Deevi, Sri V. V. ; Stephens, Jonathan ; Mapeta, Rutendo ; Tuna, Salih ; Al Hasso, Namir ; Besser, Martin W. ; Cooper, Nichola ; Daugherty, Louise ; Gleadall, Nick ; Greene, Daniel ; Haimel, Matthias ; Martin, Howard ; Papadia, Sofia ; Revel-Vilk, Shoshana ; Sivapalaratnam, Suthesh ; Symington, Emily ; Thomas, Will ; Thys, Chantal ; Tolios, Alexander ; Penkett, Christopher J. ; Ouwehand, Willem H. ; Abbs, Stephen ; Laffan, Michael A. ; Turro, Ernest ; Simeoni, Ilenia ; Mumford, Andrew D. ; Henskens, Yvonne M. C. ; Pabinger, Ingrid ; Gomez, Keith ; Freson, Kathleen ; NIHR BioResource. / Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. In: Blood. 2019 ; Vol. 134, No. 23. pp. 2082-2091.

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title = "Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders",

keywords = "GENETIC DIAGNOSIS, INHERITED THROMBOCYTOPENIA, VARIANTS, MUTATION, BIOBANK, DYSFUNCTION",

author = "Kate Downes and Karyn Megy and Daniel Duarte and Minka Vries and Johanna Gebhart and Stefanie Hofer and Olga Shamardina and Deevi, {Sri V. V.} and Jonathan Stephens and Rutendo Mapeta and Salih Tuna and {Al Hasso}, Namir and Besser, {Martin W.} and Nichola Cooper and Louise Daugherty and Nick Gleadall and Daniel Greene and Matthias Haimel and Howard Martin and Sofia Papadia and Shoshana Revel-Vilk and Suthesh Sivapalaratnam and Emily Symington and Will Thomas and Chantal Thys and Alexander Tolios and Penkett, {Christopher J.} and Ouwehand, {Willem H.} and Stephen Abbs and Laffan, {Michael A.} and Ernest Turro and Ilenia Simeoni and Mumford, {Andrew D.} and Henskens, {Yvonne M. C.} and Ingrid Pabinger and Keith Gomez and Kathleen Freson and {NIHR BioResource}",

year = "2019",

month = dec,

day = "5",

doi = "10.1182/blood.2018891192",

language = "English",

volume = "134",

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journal = "Blood",

issn = "0006-4971",

publisher = "The American Society of Hematology",

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Downes, K, Megy, K, Duarte, D, Vries, M, Gebhart, J, Hofer, S, Shamardina, O, Deevi, SVV, Stephens, J, Mapeta, R, Tuna, S, Al Hasso, N, Besser, MW, Cooper, N, Daugherty, L, Gleadall, N, Greene, D, Haimel, M, Martin, H, Papadia, S, Revel-Vilk, S, Sivapalaratnam, S, Symington, E, Thomas, W, Thys, C, Tolios, A, Penkett, CJ, Ouwehand, WH, Abbs, S, Laffan, MA, Turro, E, Simeoni, I, Mumford, AD, Henskens, YMC, Pabinger, I, Gomez, K, Freson, K & NIHR BioResource 2019, 'Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders', Blood, vol. 134, no. 23, pp. 2082-2091. https://doi.org/10.1182/blood.2018891192

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. / Downes, Kate; Megy, Karyn; Duarte, Daniel; Vries, Minka; Gebhart, Johanna; Hofer, Stefanie; Shamardina, Olga; Deevi, Sri V. V.; Stephens, Jonathan; Mapeta, Rutendo; Tuna, Salih; Al Hasso, Namir; Besser, Martin W.; Cooper, Nichola; Daugherty, Louise; Gleadall, Nick; Greene, Daniel; Haimel, Matthias; Martin, Howard; Papadia, Sofia; Revel-Vilk, Shoshana; Sivapalaratnam, Suthesh; Symington, Emily; Thomas, Will; Thys, Chantal; Tolios, Alexander; Penkett, Christopher J.; Ouwehand, Willem H.; Abbs, Stephen; Laffan, Michael A.; Turro, Ernest; Simeoni, Ilenia; Mumford, Andrew D.; Henskens, Yvonne M. C.; Pabinger, Ingrid; Gomez, Keith; Freson, Kathleen; NIHR BioResource.

In: Blood, Vol. 134, No. 23, 05.12.2019, p. 2082-2091.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

AU - Downes, Kate

AU - Megy, Karyn

AU - Duarte, Daniel

AU - Vries, Minka

AU - Gebhart, Johanna

AU - Hofer, Stefanie

AU - Shamardina, Olga

AU - Deevi, Sri V. V.

AU - Stephens, Jonathan

AU - Mapeta, Rutendo

AU - Tuna, Salih

AU - Al Hasso, Namir

AU - Besser, Martin W.

AU - Cooper, Nichola

AU - Daugherty, Louise

AU - Gleadall, Nick

AU - Greene, Daniel

AU - Haimel, Matthias

AU - Martin, Howard

AU - Papadia, Sofia

AU - Revel-Vilk, Shoshana

AU - Sivapalaratnam, Suthesh

AU - Symington, Emily

AU - Thomas, Will

AU - Thys, Chantal

AU - Tolios, Alexander

AU - Penkett, Christopher J.

AU - Ouwehand, Willem H.

AU - Abbs, Stephen

AU - Laffan, Michael A.

AU - Turro, Ernest

AU - Simeoni, Ilenia

AU - Mumford, Andrew D.

AU - Henskens, Yvonne M. C.

AU - Pabinger, Ingrid

AU - Gomez, Keith

AU - Freson, Kathleen

AU - NIHR BioResource

PY - 2019/12/5

Y1 - 2019/12/5

KW - GENETIC DIAGNOSIS

KW - INHERITED THROMBOCYTOPENIA

KW - VARIANTS

KW - MUTATION

KW - BIOBANK

KW - DYSFUNCTION

U2 - 10.1182/blood.2018891192

DO - 10.1182/blood.2018891192

M3 - Article

VL - 134

SP - 2082

EP - 2091

JO - Blood

JF - Blood

SN - 0006-4971

IS - 23

ER -