De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

M R F Reijnders; V Zachariadis; B Latour; L Jolly; Grazia Verheijen - Mancini; R Pfundt; K M Wu; CMA van Ravenswaaij-Arts; HE Veenstra-Knol; B M M Anderlid; S A Wood; SW Cheung; A Barnicoat; F Probst; P Magoulas; Alice Brooks; H Malmgren; A Harila-Saari; C M Marcelis; M Vreeburg; E Hobson; V R Sutton; Z Stark; J Vogt; N Cooper; J Y Lim; S Price; A H M Lai; D Domingo; B Reversade; J Gecz; C Gilissen; HG Brunner; U Kini; R Roepman; A Nordgren; T Kleefstra

doi:10.1016/j.ajhg.2015.12.015

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

M R F Reijnders, V Zachariadis, B Latour, L Jolly, Grazia Verheijen - Mancini, R Pfundt, K M Wu, CMA van Ravenswaaij-Arts, HE Veenstra-Knol, B M M Anderlid, S A Wood, SW Cheung, A Barnicoat, F Probst, P Magoulas, Alice Brooks, H Malmgren, A Harila-Saari, C M Marcelis, M VreeburgE Hobson, V R Sutton, Z Stark, J Vogt, N Cooper, J Y Lim, S Price, A H M Lai, D Domingo, B Reversade, J Gecz, C Gilissen, HG Brunner, U Kini, R Roepman, A Nordgren, T Kleefstra

Clinical Genetics

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

89 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	373-381
Number of pages	9
Journal	American Journal of Human Genetics
Volume	98
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2015.12.015
Publication status	Published - 2016

Research programs

EMC MGC-02-96-01

Access to Document

10.1016/j.ajhg.2015.12.015

http://hdl.handle.net/1765/82308

Cite this

Reijnders, M. R. F., Zachariadis, V., Latour, B., Jolly, L., Verheijen - Mancini, G., Pfundt, R., Wu, K. M., van Ravenswaaij-Arts, CMA., Veenstra-Knol, HE., Anderlid, B. M. M., Wood, S. A., Cheung, SW., Barnicoat, A., Probst, F., Magoulas, P., Brooks, A., Malmgren, H., Harila-Saari, A., Marcelis, C. M., ... Kleefstra, T. (2016). De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. American Journal of Human Genetics, 98(2), 373-381. https://doi.org/10.1016/j.ajhg.2015.12.015

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title = "De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations",

author = "Reijnders, {M R F} and V Zachariadis and B Latour and L Jolly and {Verheijen - Mancini}, Grazia and R Pfundt and Wu, {K M} and {van Ravenswaaij-Arts}, CMA and HE Veenstra-Knol and Anderlid, {B M M} and Wood, {S A} and SW Cheung and A Barnicoat and F Probst and P Magoulas and Alice Brooks and H Malmgren and A Harila-Saari and Marcelis, {C M} and M Vreeburg and E Hobson and Sutton, {V R} and Z Stark and J Vogt and N Cooper and Lim, {J Y} and S Price and Lai, {A H M} and D Domingo and B Reversade and J Gecz and C Gilissen and HG Brunner and U Kini and R Roepman and A Nordgren and T Kleefstra",

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volume = "98",

pages = "373--381",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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Reijnders, MRF, Zachariadis, V, Latour, B, Jolly, L, Verheijen - Mancini, G, Pfundt, R, Wu, KM, van Ravenswaaij-Arts, CMA, Veenstra-Knol, HE, Anderlid, BMM, Wood, SA, Cheung, SW, Barnicoat, A, Probst, F, Magoulas, P, Brooks, A, Malmgren, H, Harila-Saari, A, Marcelis, CM, Vreeburg, M, Hobson, E, Sutton, VR, Stark, Z, Vogt, J, Cooper, N, Lim, JY, Price, S, Lai, AHM, Domingo, D, Reversade, B, Gecz, J, Gilissen, C, Brunner, HG, Kini, U, Roepman, R, Nordgren, A & Kleefstra, T 2016, 'De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations', American Journal of Human Genetics, vol. 98, no. 2, pp. 373-381. https://doi.org/10.1016/j.ajhg.2015.12.015

TY - JOUR

T1 - De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

AU - Reijnders, M R F

AU - Zachariadis, V

AU - Latour, B

AU - Jolly, L

AU - Verheijen - Mancini, Grazia

AU - Pfundt, R

AU - Wu, K M

AU - van Ravenswaaij-Arts, CMA

AU - Veenstra-Knol, HE

AU - Anderlid, B M M

AU - Wood, S A

AU - Cheung, SW

AU - Barnicoat, A

AU - Probst, F

AU - Magoulas, P

AU - Brooks, Alice

AU - Malmgren, H

AU - Harila-Saari, A

AU - Marcelis, C M

AU - Vreeburg, M

AU - Hobson, E

AU - Sutton, V R

AU - Stark, Z

AU - Vogt, J

AU - Cooper, N

AU - Lim, J Y

AU - Price, S

AU - Lai, A H M

AU - Domingo, D

AU - Reversade, B

AU - Gecz, J

AU - Gilissen, C

AU - Brunner, HG

AU - Kini, U

AU - Roepman, R

AU - Nordgren, A

AU - Kleefstra, T

PY - 2016

Y1 - 2016

U2 - 10.1016/j.ajhg.2015.12.015

DO - 10.1016/j.ajhg.2015.12.015

M3 - Article

C2 - 26833328

SN - 0002-9297

VL - 98

SP - 373

EP - 381

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -