Functional characterization of novelNR5A1variants reveals multiple complex roles in disorders of sex development

G Robevska; JA van den Bergen; T Ohnesorg; S Eggers; C Hanna; Remko Hersmus; EM Thompson; A Baxendale; CF Verge; AR Lafferty; NS Marzuki; A Santosa; NA Listyasari; S Riedl; G Warne; LHJ (Leendert) Looijenga; S Faradz; KL Ayers; AH Sinclair

doi:10.1002/humu.23354

Functional characterization of novelNR5A1variants reveals multiple complex roles in disorders of sex development

G Robevska, JA van den Bergen, T Ohnesorg, S Eggers, C Hanna, Remko Hersmus, EM Thompson, A Baxendale, CF Verge, AR Lafferty, NS Marzuki, A Santosa, NA Listyasari, S Riedl, G Warne, LHJ (Leendert) Looijenga, S Faradz, KL Ayers, AH Sinclair

Pathology

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

26 Citations (Scopus)

2 Downloads (Pure)

Original language	Undefined/Unknown
Pages (from-to)	124-139
Number of pages	16
Journal	Human Mutation
Volume	39
Issue number	1
DOIs	https://doi.org/10.1002/humu.23354
Publication status	Published - 2018

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Cite this

Robevska, G., van den Bergen, JA., Ohnesorg, T., Eggers, S., Hanna, C., Hersmus, R., Thompson, EM., Baxendale, A., Verge, CF., Lafferty, AR., Marzuki, NS., Santosa, A., Listyasari, NA., Riedl, S., Warne, G., Looijenga, LHJ., Faradz, S., Ayers, KL., & Sinclair, AH. (2018). Functional characterization of novelNR5A1variants reveals multiple complex roles in disorders of sex development. Human Mutation, 39(1), 124-139. https://doi.org/10.1002/humu.23354

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author = "G Robevska and {van den Bergen}, JA and T Ohnesorg and S Eggers and C Hanna and Remko Hersmus and EM Thompson and A Baxendale and CF Verge and AR Lafferty and NS Marzuki and A Santosa and NA Listyasari and S Riedl and G Warne and Looijenga, {LHJ (Leendert)} and S Faradz and KL Ayers and AH Sinclair",

year = "2018",

doi = "10.1002/humu.23354",

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Robevska, G, van den Bergen, JA, Ohnesorg, T, Eggers, S, Hanna, C, Hersmus, R, Thompson, EM, Baxendale, A, Verge, CF, Lafferty, AR, Marzuki, NS, Santosa, A, Listyasari, NA, Riedl, S, Warne, G, Looijenga, LHJ, Faradz, S, Ayers, KL & Sinclair, AH 2018, 'Functional characterization of novelNR5A1variants reveals multiple complex roles in disorders of sex development', Human Mutation, vol. 39, no. 1, pp. 124-139. https://doi.org/10.1002/humu.23354

TY - JOUR

T1 - Functional characterization of novelNR5A1variants reveals multiple complex roles in disorders of sex development

AU - Robevska, G

AU - van den Bergen, JA

AU - Ohnesorg, T

AU - Eggers, S

AU - Hanna, C

AU - Hersmus, Remko

AU - Thompson, EM

AU - Baxendale, A

AU - Verge, CF

AU - Lafferty, AR

AU - Marzuki, NS

AU - Santosa, A

AU - Listyasari, NA

AU - Riedl, S

AU - Warne, G

AU - Looijenga, LHJ (Leendert)

AU - Faradz, S

AU - Ayers, KL

AU - Sinclair, AH

PY - 2018

Y1 - 2018

U2 - 10.1002/humu.23354

DO - 10.1002/humu.23354

M3 - Article

VL - 39

SP - 124

EP - 139

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 1

ER -