O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Clara Velmans; Anne H. O'Donnell-Luria; Emanuela Argilli; Frederic Tran Mau-Them; Antonio Vitobello; Marcus C.Y. Chan; Jasmine Lee Fong Fung; Megan Rech; Angela Abicht; Marion Aubert Mucca; Jason Carmichael; Nicolas Chassaing; Robin Clark; Christine Coubes; Anne Sophie Denommé-Pichon; John Karl De Dios; Eleina England; Benoit Funalot; Marion Gerard; Maries Joseph; Colleen Kennedy; Camille Kumps; Marjolaine Willems; Ingrid M.B.H. Van De Laar; Coranne Aarts-Tesselaar; Marjon Van Slegtenhorst; Daphné Lehalle; Kathleen Leppig; Lennart Lessmeier; Lynn S. Pais; Heather Paterson; Subhadra Ramanathan; Lance H. Rodan; Andrea Superti-Furga; Brian H.Y. Chung; Elliott Sherr; Christian Netzer; Christian P. Schaaf; Florian Erger

doi:10.1136/jmedgenet-2020-107470

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Clara Velmans, Anne H. O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-Them, Antonio Vitobello, Marcus C.Y. Chan, Jasmine Lee Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne Sophie Denommé-Pichon, John Karl De Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries JosephColleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M.B.H. Van De Laar, Coranne Aarts-Tesselaar, Marjon Van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S. Pais, Heather Paterson, Subhadra Ramanathan, Lance H. Rodan, Andrea Superti-Furga, Brian H.Y. Chung, Elliott Sherr, Christian Netzer, Christian P. Schaaf, Florian Erger

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

Original language	English
Pages (from-to)	697-705
Number of pages	9
Journal	Journal of Medical Genetics
Volume	59
Issue number	7
DOIs	https://doi.org/10.1136/jmedgenet-2020-107470
State	Published - Jul 1 2022

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

behavioural
genetic counselling
genetics
human genetics
mutation

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10.1136/jmedgenet-2020-107470

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Velmans, C., O'Donnell-Luria, A. H., Argilli, E., Tran Mau-Them, F., Vitobello, A., Chan, M. C. Y., Fung, J. L. F., Rech, M., Abicht, A., Aubert Mucca, M., Carmichael, J., Chassaing, N., Clark, R., Coubes, C., Denommé-Pichon, A. S., De Dios, J. K., England, E., Funalot, B., Gerard, M., ... Erger, F. (2022). O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Journal of Medical Genetics, 59(7), 697-705. https://doi.org/10.1136/jmedgenet-2020-107470

Velmans, C, O'Donnell-Luria, AH, Argilli, E, Tran Mau-Them, F, Vitobello, A, Chan, MCY, Fung, JLF, Rech, M, Abicht, A, Aubert Mucca, M, Carmichael, J, Chassaing, N, Clark, R, Coubes, C, Denommé-Pichon, AS, De Dios, JK, England, E, Funalot, B, Gerard, M, Joseph, M, Kennedy, C, Kumps, C, Willems, M, Van De Laar, IMBH, Aarts-Tesselaar, C, Van Slegtenhorst, M, Lehalle, D, Leppig, K, Lessmeier, L, Pais, LS, Paterson, H, Ramanathan, S, Rodan, LH, Superti-Furga, A, Chung, BHY, Sherr, E, Netzer, C, Schaaf, CP & Erger, F 2022, 'O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum', Journal of Medical Genetics, vol. 59, no. 7, pp. 697-705. https://doi.org/10.1136/jmedgenet-2020-107470

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author = "Clara Velmans and O'Donnell-Luria, {Anne H.} and Emanuela Argilli and {Tran Mau-Them}, Frederic and Antonio Vitobello and Chan, {Marcus C.Y.} and Fung, {Jasmine Lee Fong} and Megan Rech and Angela Abicht and {Aubert Mucca}, Marion and Jason Carmichael and Nicolas Chassaing and Robin Clark and Christine Coubes and Denomm{\'e}-Pichon, {Anne Sophie} and {De Dios}, {John Karl} and Eleina England and Benoit Funalot and Marion Gerard and Maries Joseph and Colleen Kennedy and Camille Kumps and Marjolaine Willems and {Van De Laar}, {Ingrid M.B.H.} and Coranne Aarts-Tesselaar and {Van Slegtenhorst}, Marjon and Daphn{\'e} Lehalle and Kathleen Leppig and Lennart Lessmeier and Pais, {Lynn S.} and Heather Paterson and Subhadra Ramanathan and Rodan, {Lance H.} and Andrea Superti-Furga and Chung, {Brian H.Y.} and Elliott Sherr and Christian Netzer and Schaaf, {Christian P.} and Florian Erger",

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AU - Velmans, Clara

AU - O'Donnell-Luria, Anne H.

AU - Argilli, Emanuela

AU - Tran Mau-Them, Frederic

AU - Vitobello, Antonio

AU - Chan, Marcus C.Y.

AU - Fung, Jasmine Lee Fong

AU - Rech, Megan

AU - Abicht, Angela

AU - Aubert Mucca, Marion

AU - Carmichael, Jason

AU - Chassaing, Nicolas

AU - Clark, Robin

AU - Coubes, Christine

AU - Denommé-Pichon, Anne Sophie

AU - De Dios, John Karl

AU - England, Eleina

AU - Funalot, Benoit

AU - Gerard, Marion

AU - Joseph, Maries

AU - Kennedy, Colleen

AU - Kumps, Camille

AU - Willems, Marjolaine

AU - Van De Laar, Ingrid M.B.H.

AU - Aarts-Tesselaar, Coranne

AU - Van Slegtenhorst, Marjon

AU - Lehalle, Daphné

AU - Leppig, Kathleen

AU - Lessmeier, Lennart

AU - Pais, Lynn S.

AU - Paterson, Heather

AU - Ramanathan, Subhadra

AU - Rodan, Lance H.

AU - Superti-Furga, Andrea

AU - Chung, Brian H.Y.

AU - Sherr, Elliott

AU - Netzer, Christian

AU - Schaaf, Christian P.

AU - Erger, Florian

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KW - genetic counselling

KW - genetics

KW - human genetics

KW - mutation

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ER -

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

ASJC Scopus Subject Areas

Keywords

Access to Document

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