Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

TL Le; Yunia Sribudiani; XM Dong; C Huber; C Kois; G Baujat; C T Gordon; V Mayne; L Galmiche; V Serre; N Goudin; M Zarhrate; C Bole-Feysot; C Masson; P Nitschke; Frans Verheijen; L Pais; A Pelet; S Sadedin; JA Pugh; N Shur; SM White; S El Chehadeh; J Christodoulou; V Cormier-Daire; Robert Hofstra; S Lyonnet; TY Tan; T Attie-Bitach; WS Kerstjens-Frederikse; J Amiel; S Thomas

doi:10.1016/j.ajhg.2020.04.010

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

TL Le, Yunia Sribudiani, XM Dong, C Huber, C Kois, G Baujat, C T Gordon, V Mayne, L Galmiche, V Serre, N Goudin, M Zarhrate, C Bole-Feysot, C Masson, P Nitschke, Frans Verheijen, L Pais, A Pelet, S Sadedin, JA PughN Shur, SM White, S El Chehadeh, J Christodoulou, V Cormier-Daire, Robert Hofstra, S Lyonnet, TY Tan, T Attie-Bitach, WS Kerstjens-Frederikse, J Amiel, S Thomas

Clinical Genetics

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

30 Citations (Scopus)

Original language	English
Pages (from-to)	779-792
Number of pages	14
Journal	American Journal of Human Genetics
Volume	106
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2020.04.010
Publication status	Published - 2020

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10.1016/j.ajhg.2020.04.010

Cite this

Le, TL., Sribudiani, Y., Dong, XM., Huber, C., Kois, C., Baujat, G., Gordon, C. T., Mayne, V., Galmiche, L., Serre, V., Goudin, N., Zarhrate, M., Bole-Feysot, C., Masson, C., Nitschke, P., Verheijen, F., Pais, L., Pelet, A., Sadedin, S., ... Thomas, S. (2020). Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. American Journal of Human Genetics, 106(6), 779-792. https://doi.org/10.1016/j.ajhg.2020.04.010

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title = "Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling",

author = "TL Le and Yunia Sribudiani and XM Dong and C Huber and C Kois and G Baujat and Gordon, \{C T\} and V Mayne and L Galmiche and V Serre and N Goudin and M Zarhrate and C Bole-Feysot and C Masson and P Nitschke and Frans Verheijen and L Pais and A Pelet and S Sadedin and JA Pugh and N Shur and SM White and \{El Chehadeh\}, S and J Christodoulou and V Cormier-Daire and Robert Hofstra and S Lyonnet and TY Tan and T Attie-Bitach and WS Kerstjens-Frederikse and J Amiel and S Thomas",

year = "2020",

doi = "10.1016/j.ajhg.2020.04.010",

language = "English",

volume = "106",

pages = "779--792",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

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Le, TL, Sribudiani, Y, Dong, XM, Huber, C, Kois, C, Baujat, G, Gordon, CT, Mayne, V, Galmiche, L, Serre, V, Goudin, N, Zarhrate, M, Bole-Feysot, C, Masson, C, Nitschke, P, Verheijen, F, Pais, L, Pelet, A, Sadedin, S, Pugh, JA, Shur, N, White, SM, El Chehadeh, S, Christodoulou, J, Cormier-Daire, V, Hofstra, R, Lyonnet, S, Tan, TY, Attie-Bitach, T, Kerstjens-Frederikse, WS, Amiel, J & Thomas, S 2020, 'Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling', American Journal of Human Genetics, vol. 106, no. 6, pp. 779-792. https://doi.org/10.1016/j.ajhg.2020.04.010

TY - JOUR

T1 - Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

AU - Le, TL

AU - Sribudiani, Yunia

AU - Dong, XM

AU - Huber, C

AU - Kois, C

AU - Baujat, G

AU - Gordon, C T

AU - Mayne, V

AU - Galmiche, L

AU - Serre, V

AU - Goudin, N

AU - Zarhrate, M

AU - Bole-Feysot, C

AU - Masson, C

AU - Nitschke, P

AU - Verheijen, Frans

AU - Pais, L

AU - Pelet, A

AU - Sadedin, S

AU - Pugh, JA

AU - Shur, N

AU - White, SM

AU - El Chehadeh, S

AU - Christodoulou, J

AU - Cormier-Daire, V

AU - Hofstra, Robert

AU - Lyonnet, S

AU - Tan, TY

AU - Attie-Bitach, T

AU - Kerstjens-Frederikse, WS

AU - Amiel, J

AU - Thomas, S

PY - 2020

Y1 - 2020

U2 - 10.1016/j.ajhg.2020.04.010

DO - 10.1016/j.ajhg.2020.04.010

M3 - Article

C2 - 32413283

SN - 0002-9297

VL - 106

SP - 779

EP - 792

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -