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REPETTO LISBOA, MARIA GABRIELA
Preferred name
REPETTO LISBOA, MARIA GABRIELA
Main Affiliation
Email
grepetto@udd.cl
ORCID
Scopus Author ID
57198456305
Now showing
1 - 10 of 15
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PublicationRare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome( 2017)
;Anne S. Bassett ;Chelsea Lowther ;Daniele Merico ;Gregory Costain ;Eva W. C. Chow ;Therese van Amelsvoort ;Donna McDonald-McGinn ;Raquel E. Gur ;Ann Swillen ;Marianne Van den Bree ;Kieran Murphy ;Doron Gothelf ;Carrie E. Bearden ;Stephan Eliez ;Wendy Kates ;Nicole Philip ;Vandana Sashi ;Linda Campbell ;Jacob Vorstman ;Joseph Cubells ;Tony Simon ;Erik Boot ;Tracy Heung ;Rens Evers ;Claudia Vingerhoets ;Esther van Duin ;Elaine Zackai ;Elfi Vergaelen ;Koen Devriendt ;Joris R. Vermeesch ;Michael Owen ;Clodagh Murphy ;Elena Michaelovosky ;Leila Kushan ;Maude Schneider ;Wanda Fremont ;Tiffany Busa ;Stephen Hooper ;Kathryn McCabe ;Sasja Duijff ;Karin Isaev ;Giovanna Pellecchia ;John Wei ;Matthew J. Gazzellone ;Stephen W. Scherer ;Beverly S. Emanuel ;Tingwei Guo ;Bernice E. MorrowChristian R. MarshallScopus© Citations 71 -
PublicationChromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS( 2023)
;Yingjie Zhao ;Yujue Wang ;Lijie Shi ;Donna M. McDonald-McGinn ;T. Blaine Crowley ;Daniel E. McGinn ;Oanh T. Tran ;Daniella Miller ;Jhih-Rong Lin ;Elaine Zackai ;H. Richard Johnston ;Eva W. C. Chow ;Jacob A. S. Vorstman ;Claudia Vingerhoets ;Therese van Amelsvoort ;Doron Gothelf ;Ann Swillen ;Jeroen Breckpot ;Joris R. Vermeesch ;Stephan Eliez ;Maude Schneider ;Marianne B. M. van den Bree ;Michael J. Owen ;Wendy R. Kates ;Vandana Shashi ;Kelly Schoch ;Carrie E. Bearden ;M. Cristina Digilio ;Marta Unolt ;Carolina Putotto ;Bruno Marino ;Maria Pontillo ;Marco Armando ;Stefano Vicari ;Kathleen Angkustsiri ;Linda Campbell ;Tiffany Busa ;Damian Heine-Suñer ;Kieran C. Murphy ;Declan Murphy ;Sixto García-Miñaúr ;Luis Fernández ;Tiffany Busa ;Zhengdong D. Zhang ;Elizabeth Goldmuntz ;Raquel E. Gur ;Beverly S. Emanuel ;Deyou Zheng ;Christian R. Marshall ;Anne S. Bassett ;Tao WangBernice E. MorrowScopus© Citations 2 4 -
PublicationUsing common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome( 2020)
;Robert W. Davies ;Ania M. Fiksinski ;Elemi J. Breetvelt ;Nigel M. Williams ;Stephen R. Hooper ;Thomas Monfeuga ;Anne S. Bassett ;Michael J. Owen ;Raquel E. Gur ;Bernice E. Morrow ;Donna M. McDonald-McGinn ;Ann Swillen ;Eva W. C. Chow ;Marianne van den Bree ;Beverly S. Emanuel ;Joris R. Vermeesch ;Therese van Amelsvoort ;Celso Arango ;Marco Armando ;Linda E. Campbell ;Joseph F. Cubells ;Stephan Eliez ;Sixto Garcia-Minaur ;Doron Gothelf ;Wendy R. Kates ;Kieran C. Murphy ;Clodagh M. Murphy ;Declan G. Murphy ;Nicole Philip ;Vandana Shashi ;Tony J. Simon ;Damiàn Heine Suñer ;Stefano Vicari ;Stephen W. Scherer ;Carrie E. BeardenJacob A. S. VorstmanScopus© Citations 71 8 -
PublicationRETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements( 2017)
;Wolfram Demaerel ;Matthew S. Hestand ;Elfi Vergaelen ;Ann Swillen ;Marcos López-Sánchez ;Luis A. Pérez-Jurado ;Donna M. McDonald-McGinn ;Elaine Zackai ;Beverly S. Emanuel ;Bernice E. Morrow ;Jeroen Breckpot ;Koenraad Devriendt ;Joris R. Vermeesch ;Kevin Antshel ;Celso Arango ;Marco Armando ;Anne Bassett ;Carrie Bearden ;Erik Boot ;Marta Bravo-Sanchez ;Elemi Breetvelt ;Tiffany Busa ;Nancy Butcher ;Linda Campbell ;Miri Carmel ;Eva Chow ;T. Blaine Crowley ;Joseph Cubells ;David Cutler ;Wolfram Demaerel ;Maria Cristina Digilio ;Sasja Duijff ;Stephan Eliez ;Beverly Emanuel ;Michael Epstein ;Rens Evers ;Luis Fernandez Garcia-Moya ;Ania Fiksinski ;David Fraguas ;Wanda Fremont ;Rosemarie Fritsch ;Sixto Garcia-Minaur ;Aaron Golden ;Doron Gothelf ;Tingwei Guo ;Ruben Gur ;Raquel Gur ;Damian Heine-Suner ;Matthew Hestand ;Stephen Hooper ;Wendy Kates ;Leila Kushan ;Alejandra Laorden-Nieto ;Johanna Maeder ;Bruno Marino ;Christian Marshall ;Kathryn McCabe ;Donna McDonald-McGinn ;Elena Michaelovosky ;Bernice Morrow ;Edward Moss ;Jennifer Mulle ;Declan Murphy ;Kieran Murphy ;Clodagh Murphy ;Maria Niarchou ;Claudia Ornstein ;Michael Owen ;Nicole Philip ;Maude Schneider ;Vandana Shashi ;Tony Simon ;Ann Swillen ;Flora Tassone ;Marta Unolt ;Therese van Amelsvoort ;Marianne van den Bree ;Esther Van Duin ;Elfi Vergaelen ;Joris Vermeesch ;Stefano Vicari ;Claudia Vingerhoets ;Jacob Vorstman ;Steve Warren ;Ronnie Weinberger ;Omri Weisman ;Abraham Weizman ;Elaine Zackai ;Zhengdong ZhangMichael Zwick8 -
PublicationUpdated clinical practice recommendations for managing children with 22q11.2 deletion syndrome( 2023)
;Sólveig Óskarsdóttir ;Erik Boot ;Terrence Blaine Crowley ;Joanne C.Y. Loo ;Jill M. Arganbright ;Marco Armando ;Adriane L. Baylis ;Elemi J. Breetvelt ;René M. Castelein ;Madeline Chadehumbe ;Christopher M. Cielo ;Steven de Reuver ;Stephan Eliez ;Ania M. Fiksinski ;Brian J. Forbes ;Emily Gallagher ;Sarah E. Hopkins ;Oksana A. Jackson ;Lorraine Levitz-Katz ;Gunilla Klingberg ;Michele P. Lambert ;Bruno Marino ;Maria R. Mascarenhas ;Julie Moldenhauer ;Edward M. Moss ;Beata Anna Nowakowska ;Ani Orchanian-Cheff ;Carolina Putotto ;Erica Schindewolf ;Maude Schneider ;Cynthia B. Solot ;Kathleen E. Sullivan ;Ann Swillen ;Marta Unolt ;Jason P. Van Batavia ;Claudia Vingerhoets ;Jacob Vorstman ;Anne S. BassettDonna M. McDonald-McGinnScopus© Citations 5 6 -
PublicationPractical guidelines for managing adults with 22q11.2 deletion syndrome( 2015)
;Wai Lun Alan Fung ;Nancy J. Butcher ;Gregory Costain ;Danielle M. Andrade ;Erik Boot ;Eva W.C. Chow ;Brian Chung ;Cheryl Cytrynbaum ;Hanna Faghfoury ;Leona Fishman ;Sixto García-Miñaúr ;Susan George ;Anthony E. Lang ;Andrea Shugar ;Candice Silversides ;Ann Swillen ;Therese van Amelsvoort ;Donna M. McDonald-McGinnAnne S. BassettScopus© Citations 207 6 -
PublicationPrenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age( 2023)
;Lindsay R. Freud ;Stephanie Galloway ;T. Blaine Crowley ;Julie Moldenhauer ;Ann Swillen ;Jeroen Breckpot ;Antoni Borrell ;Neeta L. Vora ;Bettina Cuneo ;Hilary Hoffman ;Lisa Gilbert ;Beata Nowakowska ;Maciej Geremek ;Anna Kutkowska-Kaźmierczak ;Joris R. Vermeesch ;Koen Devriendt ;Tiffany Busa ;Sabine Sigaudy ;Trisha Vigneswaran ;John M. Simpson ;Jeffrey Dungan ;Nina Gotteiner ;Karl-Philipp Gloning ;Maria Cristina Digilio ;Marta Unolt ;Carolina Putotto ;Bruno Marino ;Magdalena Fadic ;Sixto Garcia-Minaur ;Ana Achón Buil ;Mary Ann Thomas ;Deborah Fruitman ;Taylor Beecroft ;Pui Wah Hui ;Solveig Oskarsdottir ;Rachael Bradshaw ;Amanda Criebaum ;Mary E. Norton ;Tiffany Lee ;Miwa Geiger ;Leslie Dunnington ;Jacqueline Isaac ;Louise Wilkins-Haug ;Lindsey Hunter ;Claudia Izzi ;Marika Toscano ;Tullio Ghi ;Julie McGlynn ;Francesca Romana Grati ;Beverly S. Emanuel ;Kimberly Gaiser ;J. William Gaynor ;Elizabeth Goldmuntz ;Daniel E. McGinn ;Erica Schindewolf ;Oanh Tran ;Elaine H. Zackai ;Qi Yan ;Anne S. Bassett ;Ronald WapnerDonna M. McDonald-McGinnScopus© Citations 2 23 -
PublicationUpdated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome( 2023)
;Erik Boot ;Sólveig Óskarsdóttir ;Joanne C.Y. Loo ;Terrence Blaine Crowley ;Ani Orchanian-Cheff ;Danielle M. Andrade ;Jill M. Arganbright ;René M. Castelein ;Christine Cserti-Gazdewich ;Steven de Reuver ;Ania M. Fiksinski ;Gunilla Klingberg ;Anthony E. Lang ;Maria R. Mascarenhas ;Edward M. Moss ;Beata Anna Nowakowska ;Erwin Oechslin ;Lisa Palmer ;Nikolai Gil D. Reyes ;Maude Schneider ;Candice Silversides ;Kathleen E. Sullivan ;Ann Swillen ;Therese A.M.J. van Amelsvoort ;Jason P. Van Batavia ;Claudia Vingerhoets ;Donna M. McDonald-McGinnAnne S. BassettScopus© Citations 22 3 -
PublicationVariance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects( 2018)
;Yingjie Zhao ;Tingwei Guo ;Ania Fiksinski ;Elemi Breetvelt ;Donna M. McDonald-McGinn ;Terrence B. Crowley ;Alexander Diacou ;Maude Schneider ;Stephan Eliez ;Ann Swillen ;Jeroen Breckpot ;Joris Vermeesch ;Eva W. C. Chow ;Doron Gothelf ;Sasja Duijff ;Rens Evers ;Thérèse A. van Amelsvoort ;Marianne van den Bree ;Michael Owen ;Maria Niarchou ;Carrie E. Bearden ;Claudia Ornstein ;Maria Pontillo ;Antonino Buzzanca ;Stefano Vicari ;Marco Armando ;Kieran C. Murphy ;Clodagh Murphy ;Sixto Garcia-Minaur ;Nicole Philip ;Linda Campbell ;Jaume Morey-Cañellas ;Jasna Raventos ;Jordi Rosell ;Damian Heine-Suner ;Robert J. Shprintzen ;Raquel E. Gur ;Elaine Zackai ;Beverly S. Emanuel ;Tao Wang ;Wendy R. Kates ;Anne S. Bassett ;Jacob A. S. Vorstman ;Bernice E. MorrowScopus© Citations 30 12 -
PublicationComplete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects( 2020)
;Yingjie Zhao ;Alexander Diacou ;H. Richard Johnston ;Fadi I. Musfee ;Donna M. McDonald-McGinn ;Daniel McGinn ;T. Blaine Crowley ;Ann Swillen ;Jeroen Breckpot ;Joris R. Vermeesch ;Wendy R. Kates ;M. Cristina Digilio ;Marta Unolt ;Bruno Marino ;Maria Pontillo ;Marco Armando ;Fabio Di Fabio ;Stefano Vicari ;Marianne van den Bree ;Hayley Moss ;Michael J. Owen ;Kieran C. Murphy ;Clodagh M. Murphy ;Declan Murphy ;Kelly Schoch ;Vandana Shashi ;Flora Tassone ;Tony J. Simon ;Robert J. Shprintzen ;Linda Campbell ;Nicole Philip ;Damian Heine-Suñer ;Sixto García-Miñaúr ;Luis Fernández ;Carrie E. Bearden ;Claudia Vingerhoets ;Therese van Amelsvoort ;Stephan Eliez ;Maude Schneider ;Jacob A.S. Vorstman ;Doron Gothelf ;Elaine Zackai ;A.J. Agopian ;Raquel E. Gur ;Anne S. Bassett ;Beverly S. Emanuel ;Elizabeth Goldmuntz ;Laura E. Mitchell ;Tao Wang ;Bernice E. Morrow ;Stylianos E. Antonarakis ;Massimo Biondi ;Erik Boot ;Elemi Breetvelt ;Tiffany Busa ;Nancy Butcher ;Antonino Buzzanca ;Miri Carmel ;Isabelle Cleynen ;David Cutler ;Bruno Dallapiccola ;María Angeles de la Fuente Sanches ;Michael P. Epstein ;Rens Evers ;Luis Fernandez ;Rosemarie Fritsch ;Fernando García Algas ;Tingwei Guo ;Raquel Gur ;Matthew S. Hestand ;Tracy Heung ;Stephen Hooper ;Andrea Jin ;Leila Kushan-Wells ;Alejandra Teresa Laorden-Nieto ;Guido Lattanzi ;Christian Marshall ;Kathryn McCabe ;Elena Michaelovsky ;Claudia Ornstein ;Candice Silversides ;Oanh Tran ;Esther D.A. van Duin ;Elfi Vergaelen ;Steve T. Warren ;Ronnie Weinberger ;Abraham Weizman ;Zhengdong ZhangMichael ZwickScopus© Citations 36 5