Journal article

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Laura Castilla-Vallmanya, Kaja K Selmer, Clemantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sanchez, Sandra Yang, Margot RF Reijnders, Antonie J van Essen, Myriam Oufadem, Magnus D Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton-Smith, Jeffrey W Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K Chung Show all

Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2020


Awarded by Agence Nationale de la Recherche

Awarded by Spanish Ministerio de Ciencia e Innovacion

Awarded by CIBERER

Awarded by German Research Foundation (DFG)

Awarded by Genome BC (CAUSES Study)

Awarded by National Human Genome Research Institute (NHGRI)

Awarded by National Institutes of Health (NIH)

Awarded by Health Innovation Challenge Fund (DDD study)

Funding Acknowledgements

We thank the families for their participation. This work was supported by the Agence Nationale de la Recherche (CranioRespiro and ANR-10-IAHU-01), MSD Avenir (Devo-Decode), Spanish Ministerio de Ciencia e Innovacion (SAF2016-75946R), CIBERER (ACCI2018-15), Associacio Sindrome Opitz C, the Morton S. and Henrietta K. Sellner Professorship in Human Genetics (J.W.I.), JPB Foundation and the Simons Foundation SFARI program (W.K.C.), German Research Foundation (DFG; LE 4223/1; to D.L.), BC Children's Hospital Foundation and Genome BC (CAUSES Study), PG23/FROM 2017 Call for Independent Research as part of the Rapid Analysis for Rapid carE project (M.I., A.C.), the Victorian Government's Operational Infrastructure Support Program, the National Human Genome Research Institute (NHGRI) (UM1 HG008900, U01HG009599, UM1 HG006542), a National Institutes of Health (NIH) Common Fund grant (U01HG00769) and the Health Innovation Challenge Fund (DDD study; grant number HICF-1009-003). See Table for supplementary acknowledgements.