Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

Pilar L. Magoulas; Oleg A. Shchelochkov; Matthew N. Bainbridge; Shay Ben-Shachar; Svetlana Yatsenko; Lorraine Potocki; Richard A. Lewis; Charles Searby; Andrea N. Marcogliese; M. Tarek Elghetany; Gladys Zapata; Paula P. Hernández; Manasi Gadkari; Derek Einhaus; Donna M. Muzny; Richard A. Gibbs; Alison A. Bertuch; Daryl A. Scott; Silvia Corvera; Luis M. Franco

doi:10.1182/blood-2017-12-824433

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

Pilar L. Magoulas, Oleg A. Shchelochkov, Matthew N. Bainbridge, Shay Ben-Shachar, Svetlana Yatsenko, Lorraine Potocki, Richard A. Lewis, Charles Searby, Andrea N. Marcogliese, M. Tarek Elghetany, Gladys Zapata, Paula P. Hernández, Manasi Gadkari, Derek Einhaus, Donna M. Muzny, Richard A. Gibbs, Alison A. Bertuch, Daryl A. Scott, Silvia Corvera, Luis M. Franco^*

^*Corresponding author for this work

Pediatrics

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

10 Scopus citations

Original language	English
Pages (from-to)	658-662
Number of pages	5
Journal	Blood
Volume	132
Issue number	6
DOIs	https://doi.org/10.1182/blood-2017-12-824433
State	Published - 9 Aug 2018

Funding

Funders	Funder number
National Institutes of Health
National Human Genome Research Institute
National Institute of Allergy and Infectious Diseases	ZIAAI001191

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1182/blood-2017-12-824433

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Magoulas, P. L., Shchelochkov, O. A., Bainbridge, M. N., Ben-Shachar, S., Yatsenko, S., Potocki, L., Lewis, R. A., Searby, C., Marcogliese, A. N., Elghetany, M. T., Zapata, G., Hernández, P. P., Gadkari, M., Einhaus, D., Muzny, D. M., Gibbs, R. A., Bertuch, A. A., Scott, D. A., Corvera, S., & Franco, L. M. (2018). Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood, 132(6), 658-662. https://doi.org/10.1182/blood-2017-12-824433

@article{d7f026c765b842deb0eb3d4d48bbb0b7,

title = "Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN",

author = "Magoulas, {Pilar L.} and Shchelochkov, {Oleg A.} and Bainbridge, {Matthew N.} and Shay Ben-Shachar and Svetlana Yatsenko and Lorraine Potocki and Lewis, {Richard A.} and Charles Searby and Marcogliese, {Andrea N.} and Elghetany, {M. Tarek} and Gladys Zapata and Hern{\'a}ndez, {Paula P.} and Manasi Gadkari and Derek Einhaus and Muzny, {Donna M.} and Gibbs, {Richard A.} and Bertuch, {Alison A.} and Scott, {Daryl A.} and Silvia Corvera and Franco, {Luis M.}",

note = "Funding Information: This work was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases at the National Institutes of Health (NIH) (L.M.F.) and the Intramural Research Program of the National Human Genome Research Institute at NIH (O.A.S.).",

year = "2018",

month = aug,

day = "9",

doi = "10.1182/blood-2017-12-824433",

language = "אנגלית",

volume = "132",

pages = "658--662",

journal = "Blood",

issn = "0006-4971",

publisher = "Elsevier B.V.",

number = "6",

}

Magoulas, PL, Shchelochkov, OA, Bainbridge, MN, Ben-Shachar, S, Yatsenko, S, Potocki, L, Lewis, RA, Searby, C, Marcogliese, AN, Elghetany, MT, Zapata, G, Hernández, PP, Gadkari, M, Einhaus, D, Muzny, DM, Gibbs, RA, Bertuch, AA, Scott, DA, Corvera, S & Franco, LM 2018, 'Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN', Blood, vol. 132, no. 6, pp. 658-662. https://doi.org/10.1182/blood-2017-12-824433

TY - JOUR

T1 - Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

AU - Magoulas, Pilar L.

AU - Shchelochkov, Oleg A.

AU - Bainbridge, Matthew N.

AU - Ben-Shachar, Shay

AU - Yatsenko, Svetlana

AU - Potocki, Lorraine

AU - Lewis, Richard A.

AU - Searby, Charles

AU - Marcogliese, Andrea N.

AU - Elghetany, M. Tarek

AU - Zapata, Gladys

AU - Hernández, Paula P.

AU - Gadkari, Manasi

AU - Einhaus, Derek

AU - Muzny, Donna M.

AU - Gibbs, Richard A.

AU - Bertuch, Alison A.

AU - Scott, Daryl A.

AU - Corvera, Silvia

AU - Franco, Luis M.

N1 - Funding Information: This work was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases at the National Institutes of Health (NIH) (L.M.F.) and the Intramural Research Program of the National Human Genome Research Institute at NIH (O.A.S.).

PY - 2018/8/9

Y1 - 2018/8/9

UR - http://www.scopus.com/inward/record.url?scp=85051401184&partnerID=8YFLogxK

U2 - 10.1182/blood-2017-12-824433

DO - 10.1182/blood-2017-12-824433

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.letter???

C2 - 29784638

AN - SCOPUS:85051401184

SN - 0006-4971

VL - 132

SP - 658

EP - 662

JO - Blood

JF - Blood

IS - 6

ER -

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

Funding

UN SDGs

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