Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

A. Onoufriadis; A. Shoemark; M.M. Munye; C.T. James; M. Schmidts; M. Patel; E.M. Rosser; C. Bacchelli; P.L. Beales; P.J. Scambler; S.L. Hart; J.E. nke-Roelse; J.J. Sloper; S. Hull; C. Hogg; R.D. Emes; G. Pals; A.T. Moore; E.M.K. Chung; H.M. Mitchison

doi:10.1136/jmedgenet-2013-101938

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

A. Onoufriadis
, A. Shoemark
, M.M. Munye
, C.T. James
, M. Schmidts
, M. Patel
, E.M. Rosser
, C. Bacchelli
, P.L. Beales
, P.J. Scambler
, S.L. Hart
, J.E. nke-Roelse
, J.J. Sloper
, S. Hull
, C. Hogg
, R.D. Emes
, G. Pals
, A.T. Moore
, E.M.K. Chung
, H.M. Mitchison

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

Original language	Undefined/Unknown
Pages (from-to)	61-67
Journal	Journal of medical genetics
Volume	51
Issue number	1
DOIs	https://doi.org/10.1136/jmedgenet-2013-101938
Publication status	Published - 2014

UN SDGs

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

SDG 3 Good Health and Well-being

Access to Document

10.1136/jmedgenet-2013-101938

Cite this

Onoufriadis, A., Shoemark, A., Munye, M. M., James, C. T., Schmidts, M., Patel, M., Rosser, E. M., Bacchelli, C., Beales, P. L., Scambler, P. J., Hart, S. L., nke-Roelse, J. E., Sloper, J. J., Hull, S., Hogg, C., Emes, R. D., Pals, G., Moore, A. T., Chung, E. M. K., & Mitchison, H. M. (2014). Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Journal of medical genetics, 51(1), 61-67. https://doi.org/10.1136/jmedgenet-2013-101938

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Onoufriadis, A, Shoemark, A, Munye, MM, James, CT, Schmidts, M, Patel, M, Rosser, EM, Bacchelli, C, Beales, PL, Scambler, PJ, Hart, SL, nke-Roelse, JE, Sloper, JJ, Hull, S, Hogg, C, Emes, RD, Pals, G, Moore, AT, Chung, EMK & Mitchison, HM 2014, 'Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm', Journal of medical genetics, vol. 51, no. 1, pp. 61-67. https://doi.org/10.1136/jmedgenet-2013-101938

TY - JOUR

T1 - Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

AU - Onoufriadis, A.

AU - Shoemark, A.

AU - Munye, M.M.

AU - James, C.T.

AU - Schmidts, M.

AU - Patel, M.

AU - Rosser, E.M.

AU - Bacchelli, C.

AU - Beales, P.L.

AU - Scambler, P.J.

AU - Hart, S.L.

AU - nke-Roelse, J.E.

AU - Sloper, J.J.

AU - Hull, S.

AU - Hogg, C.

AU - Emes, R.D.

AU - Pals, G.

AU - Moore, A.T.

AU - Chung, E.M.K.

AU - Mitchison, H.M.

PY - 2014

Y1 - 2014

U2 - 10.1136/jmedgenet-2013-101938

DO - 10.1136/jmedgenet-2013-101938

M3 - Article

C2 - 24203976

SN - 0022-2593

VL - 51

SP - 61

EP - 67

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 1

ER -