Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

Santhosh Dhanraj; Sethu Madhava Rao Gunja; Adam P. Deveau; Mikael Nissbeck; Boonchai Boonyawat; Andrew J. Coombs; Alessandra Renieri; Mafalda Mucciolo; Annabella Marozza; Sabrina Buoni; Lesley Turner; Hongbing Li; Ameer Jarrar; Mathura Sabanayagam; Melanie Kirby; Mary Shago; Dalila Pinto; Jason N. Berman; Stephen W. Scherer; Anders Virtanen; Yigal Dror

doi:10.1136/jmedgenet-2015-103292

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P. Deveau, Mikael Nissbeck, Boonchai Boonyawat, Andrew J. Coombs, Alessandra Renieri, Mafalda Mucciolo, Annabella Marozza, Sabrina Buoni, Lesley Turner, Hongbing Li, Ameer Jarrar, Mathura Sabanayagam, Melanie Kirby, Mary Shago, Dalila Pinto, Jason N. Berman, Stephen W. Scherer, Anders VirtanenYigal Dror

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

75 Citations (Scopus)

Original language	English
Pages (from-to)	738-748
Number of pages	11
Journal	Journal of Medical Genetics
Volume	52
Issue number	11
DOIs	https://doi.org/10.1136/jmedgenet-2015-103292
Publication status	Published - Sept 4 2015
Externally published	Yes

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

UN SDGs

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

Access to Document

10.1136/jmedgenet-2015-103292

Cite this

Dhanraj, S., Gunja, S. M. R., Deveau, A. P., Nissbeck, M., Boonyawat, B., Coombs, A. J., Renieri, A., Mucciolo, M., Marozza, A., Buoni, S., Turner, L., Li, H., Jarrar, A., Sabanayagam, M., Kirby, M., Shago, M., Pinto, D., Berman, J. N., Scherer, S. W., ... Dror, Y. (2015). Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). Journal of Medical Genetics, 52(11), 738-748. https://doi.org/10.1136/jmedgenet-2015-103292

Dhanraj, S, Gunja, SMR, Deveau, AP, Nissbeck, M, Boonyawat, B, Coombs, AJ, Renieri, A, Mucciolo, M, Marozza, A, Buoni, S, Turner, L, Li, H, Jarrar, A, Sabanayagam, M, Kirby, M, Shago, M, Pinto, D, Berman, JN, Scherer, SW, Virtanen, A & Dror, Y 2015, 'Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)', Journal of Medical Genetics, vol. 52, no. 11, pp. 738-748. https://doi.org/10.1136/jmedgenet-2015-103292

@article{7a392edfc9d242519092abc168e12461,

title = "Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)",

author = "Santhosh Dhanraj and Gunja, {Sethu Madhava Rao} and Deveau, {Adam P.} and Mikael Nissbeck and Boonchai Boonyawat and Coombs, {Andrew J.} and Alessandra Renieri and Mafalda Mucciolo and Annabella Marozza and Sabrina Buoni and Lesley Turner and Hongbing Li and Ameer Jarrar and Mathura Sabanayagam and Melanie Kirby and Mary Shago and Dalila Pinto and Berman, {Jason N.} and Scherer, {Stephen W.} and Anders Virtanen and Yigal Dror",

year = "2015",

month = sep,

day = "4",

doi = "10.1136/jmedgenet-2015-103292",

language = "English",

volume = "52",

pages = "738--748",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "11",

}

TY - JOUR

T1 - Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

AU - Dhanraj, Santhosh

AU - Gunja, Sethu Madhava Rao

AU - Deveau, Adam P.

AU - Nissbeck, Mikael

AU - Boonyawat, Boonchai

AU - Coombs, Andrew J.

AU - Renieri, Alessandra

AU - Mucciolo, Mafalda

AU - Marozza, Annabella

AU - Buoni, Sabrina

AU - Turner, Lesley

AU - Li, Hongbing

AU - Jarrar, Ameer

AU - Sabanayagam, Mathura

AU - Kirby, Melanie

AU - Shago, Mary

AU - Pinto, Dalila

AU - Berman, Jason N.

AU - Scherer, Stephen W.

AU - Virtanen, Anders

AU - Dror, Yigal

PY - 2015/9/4

Y1 - 2015/9/4

UR - http://www.scopus.com/inward/record.url?scp=84954387397&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84954387397&partnerID=8YFLogxK

U2 - 10.1136/jmedgenet-2015-103292

DO - 10.1136/jmedgenet-2015-103292

M3 - Article

C2 - 26342108

AN - SCOPUS:84954387397

SN - 0022-2593

VL - 52

SP - 738

EP - 748

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 11

ER -

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

ASJC Scopus Subject Areas

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this