Journal article

Familial STAG2 germline mutation defines a new human cohesinopathy

Fernanda C Soardi, Alice Machado-Silva, Natalia D Linhares, Ge Zheng, Qianhui Qu, Heloisa B Pena, Thaia MM Martins, Helaine GS Vieira, Nubia B Pereira, Raquel C Melo-Minardi, Carolina C Gomes, Ricardo S Gomez, Dawidson A Gomes, Douglas EV Pires, David B Ascher, Hongtao Yu, Sergio DJ Pena

NPJ GENOMIC MEDICINE | NATURE PUBLISHING GROUP | Published : 2017

Grants

Awarded by Fundacao de Amparo a Pesquisa do Estado de Minas Gerais (FAPEMIG)


Awarded by Programa de Formacao de Recursos Humanos em Areas Estrategicas (RHAE) of the Conselho Nacional de Pesquisa (CNPq)


Awarded by Programa Nacional de Pos-doutorado (PNPD) Institucional of Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)


Awarded by NHMRC CJ Martin Fellowship


Awarded by Jack Brockhoff Foundation


Awarded by Cancer Prevention Research Institute of Texas


Awarded by Welch Foundation


Funding Acknowledgements

We are grateful to the patients and their family. Their cooperation made this work possible. F.C.S. was initially supported by a visiting researcher program fellowship from Fundacao de Amparo a Pesquisa do Estado de Minas Gerais (FAPEMIG) (BPV-00059-14) and by a fellowship from the Programa de Formacao de Recursos Humanos em Areas Estrategicas (RHAE) of the Conselho Nacional de Pesquisa (CNPq) (351030/2015-8). A.M.-S. was also supported by a fellowship from the Programa de Formacao de Recursos Humanos em Areas Estrategicas (RHAE) of the Conselho Nacional de Pesquisa (CNPq). N.D.L. was supported by a fellowship from Programa Nacional de Pos-doutorado (PNPD) Institucional of Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES) (2792/2011). D.B.A. and D.E.V.P. received funding from a Newton Fund RCUK-CONFAP Grant awarded by The Medical Research Council (MRC) and Fundacao de Amparo a Pesquisa do Estado de Minas Gerais (FAPEMIG) (MR/M026302/1). D.E.V.P. received support from the Rene Rachou Research Center (CPqRR/FIOCRUZ Minas), Brazil. D.B.A. was supported by an NHMRC CJ Martin Fellowship (APP1072476) and the Jack Brockhoff Foundation (JBF 4186, 2016). H.Y. is an Investigator with the Howard Hughes Medical Institute, and is supported by grants from the Cancer Prevention Research Institute of Texas (RP110465-P3 and RP120717-P2) and the Welch Foundation (I-1441). S.D.J.P. receives support as a Scientist 1A of the Conselho Nacional de Pesquisa (CNPq). The work done in Brazil was funded by the Conselho Nacional de Pesquisa (CNPq) and the Fundacao de Pesquisa do Estado de Minas Gerais (FAPEMIG).