Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Roberta De Mori; Marta Romani; Stefano D'Arrigo; Maha S. Zaki; Elisa Lorefice; Silvia Tardivo; Tommaso Biagini; Valentina Stanley; Damir Musaev; Joel Fluss; Alessia Micalizzi; Sara Nuovo; Barbara Illi; Luisa Chiapparini; Lucia Di Marcotullio; Mahmoud Y. Issa; Danila Anello; Antonella Casella; Monia Ginevrino; Autumn Sa'na Leggins; Susanne Roosing; Romina Alfonsi; Jessica Rosati; Rachel Schot; Grazia Maria Simonetta Mancini; Enrico Bertini; William B. Dobyns; Tommaso Mazza; Joseph G. Gleeson; Enza Maria Valente

doi:10.1016/j.ajhg.2017.08.017

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S. Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y. Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na LegginsSusanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B. Dobyns, Tommaso Mazza, Joseph G. Gleeson, Enza Maria Valente

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

Original language	Undefined/Unknown
Pages (from-to)	552-563
Number of pages	12
Journal	American Journal of Human Genetics
Volume	101
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2017.08.017
Publication status	Published - Oct 5 2017

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10.1016/j.ajhg.2017.08.017

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De Mori, R., Romani, M., D'Arrigo, S., Zaki, M. S., Lorefice, E., Tardivo, S., Biagini, T., Stanley, V., Musaev, D., Fluss, J., Micalizzi, A., Nuovo, S., Illi, B., Chiapparini, L., Di Marcotullio, L., Issa, M. Y., Anello, D., Casella, A., Ginevrino, M., ... Valente, E. M. (2017). Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. American Journal of Human Genetics, 101(4), 552-563. https://doi.org/10.1016/j.ajhg.2017.08.017

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. / De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S.; Lorefice, Elisa; Tardivo, Silvia; Biagini, Tommaso; Stanley, Valentina; Musaev, Damir; Fluss, Joel; Micalizzi, Alessia; Nuovo, Sara; Illi, Barbara; Chiapparini, Luisa; Di Marcotullio, Lucia; Issa, Mahmoud Y.; Anello, Danila; Casella, Antonella; Ginevrino, Monia; Leggins, Autumn Sa'na; Roosing, Susanne; Alfonsi, Romina; Rosati, Jessica; Schot, Rachel; Mancini, Grazia Maria Simonetta; Bertini, Enrico; Dobyns, William B.; Mazza, Tommaso; Gleeson, Joseph G.; Valente, Enza Maria.

In: American Journal of Human Genetics, Vol. 101, No. 4, 05.10.2017, p. 552-563.

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

De Mori, R, Romani, M, D'Arrigo, S, Zaki, MS, Lorefice, E, Tardivo, S, Biagini, T, Stanley, V, Musaev, D, Fluss, J, Micalizzi, A, Nuovo, S, Illi, B, Chiapparini, L, Di Marcotullio, L, Issa, MY, Anello, D, Casella, A, Ginevrino, M, Leggins, AS, Roosing, S, Alfonsi, R, Rosati, J, Schot, R, Mancini, GMS, Bertini, E, Dobyns, WB, Mazza, T, Gleeson, JG & Valente, EM 2017, 'Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects', American Journal of Human Genetics, vol. 101, no. 4, pp. 552-563. https://doi.org/10.1016/j.ajhg.2017.08.017

De Mori, Roberta ; Romani, Marta ; D'Arrigo, Stefano ; Zaki, Maha S. ; Lorefice, Elisa ; Tardivo, Silvia ; Biagini, Tommaso ; Stanley, Valentina ; Musaev, Damir ; Fluss, Joel ; Micalizzi, Alessia ; Nuovo, Sara ; Illi, Barbara ; Chiapparini, Luisa ; Di Marcotullio, Lucia ; Issa, Mahmoud Y. ; Anello, Danila ; Casella, Antonella ; Ginevrino, Monia ; Leggins, Autumn Sa'na ; Roosing, Susanne ; Alfonsi, Romina ; Rosati, Jessica ; Schot, Rachel ; Mancini, Grazia Maria Simonetta ; Bertini, Enrico ; Dobyns, William B. ; Mazza, Tommaso ; Gleeson, Joseph G. ; Valente, Enza Maria. / Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. In: American Journal of Human Genetics. 2017 ; Vol. 101, No. 4. pp. 552-563.

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AU - Romani, Marta

AU - D'Arrigo, Stefano

AU - Zaki, Maha S.

AU - Lorefice, Elisa

AU - Tardivo, Silvia

AU - Biagini, Tommaso

AU - Stanley, Valentina

AU - Musaev, Damir

AU - Fluss, Joel

AU - Micalizzi, Alessia

AU - Nuovo, Sara

AU - Illi, Barbara

AU - Chiapparini, Luisa

AU - Di Marcotullio, Lucia

AU - Issa, Mahmoud Y.

AU - Anello, Danila

AU - Casella, Antonella

AU - Ginevrino, Monia

AU - Leggins, Autumn Sa'na

AU - Roosing, Susanne

AU - Alfonsi, Romina

AU - Rosati, Jessica

AU - Schot, Rachel

AU - Mancini, Grazia Maria Simonetta

AU - Bertini, Enrico

AU - Dobyns, William B.

AU - Mazza, Tommaso

AU - Gleeson, Joseph G.

AU - Valente, Enza Maria

PY - 2017/10/5

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U2 - 10.1016/j.ajhg.2017.08.017

DO - 10.1016/j.ajhg.2017.08.017

M3 - Articolo

VL - 101

SP - 552

EP - 563

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

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