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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 16
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PublicationPEMapper and PECaller provide a simplified approach to whole-genome sequencing( 2017)
;H. Richard Johnston ;Pankaj Chopra ;Thomas S. Wingo ;Viren Patel ;Michael P. Epstein ;Jennifer G. Mulle ;Stephen T. Warren ;Michael E. Zwick ;David J. Cutler ;Bernice Morrow ;Beverly Emanuel ;Donna M. McDonald-McGinn ;Steve Scherer ;Anne Bassett ;Eva Chow ;Joris Vermeesch ;Ann Swillen ;Raquel Gur ;Carrie Bearden ;Wendy Kates ;Vandana Shashi ;Tony Simon ;Pankj Chopra ;Joseph Cubells ;David J. Cutler ;Michael P. Epstein ;H. Richard Johnston ;Jennifer Mulle ;Viren Patel ;Stephen T. Warren ;Thomas S. Wingo ;Michael E. Zwick ;Linda Campbell ;Jacob Vorstman ;Therese Van Amelsvoort ;Stephen Eliez ;Nicole Philip ;Doron Gothelf ;Marianne Van Den Bree ;Michael Owen ;Clodagh Murphy ;Declan Murphy ;Sixto Garcia-Minaur ;Damian Neine-Suner ;Kieran Murphy ;Marco ArmandoStefano Vicari7 -
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 -
PublicationA normative chart for cognitive development in a genetically selected population( 2021)
;Ania M. Fiksinski ;Carrie E. Bearden ;Anne S. Bassett ;René S. Kahn ;Janneke R. Zinkstok ;Stephen R. Hooper ;Wanda Tempelaar ;Donna McDonald-McGinn ;Ann Swillen ;Beverly Emanuel ;Bernice Morrow ;Raquel Gur ;Eva Chow ;Marianne van den Bree ;Joris Vermeesch ;Stephen Warren ;Michael Owen ;Therese van Amelsvoort ;Stephan Eliez ;Doron Gothelf ;Celso Arango ;Wendy Kates ;Tony Simon ;Kieran Murphy ;Damian Heine Suner ;Stefano Vicari ;Joseph Cubells ;Marco Armando ;Nicole Philip ;Linda Campbell ;Sixto Garcia-Minaur ;Maude Schneider ;Vandana Shashi ;Jacob VorstmanElemi J. BreetveltScopus© Citations 11 11 -
PublicationGathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research( 2023)
;Lauren K. White ;T. Blaine Crowley ;Brenda Finucane ;Emily J. McClellan ;Sarah Donoghue ;Sixto Garcia-Minaur ;Matthias Fischer ;Sebastien Jacquemont ;Raquel E. Gur ;Anne M. Maillard ;Kirsten A. Donald ;Anne S. Bassett ;Ann SwillenDonna M. McDonald-McGinnScopus© Citations 1 2 -
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 18 -
PublicationGenome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3( 2017)
;Tingwei Guo ;Donna M. McDonald McGinn ;Jonathan H. Chung ;Hiroko Nomaru ;Christopher L. Campbell ;Anna Blonska ;Anne S. Bassett ;Eva W.C. Chow ;Elisabeth E. Mlynarski ;Ann Swillen ;Joris Vermeesch ;Koen Devriendt ;Doron Gothelf ;Miri Carmel ;Elena Michaelovsky ;Maude Schneider ;Stephan Eliez ;Stylianos E. Antonarakis ;Karlene Coleman ;Aoy Tomita-Mitchell ;Michael E. Mitchell ;M. Cristina Digilio ;Bruno Dallapiccola ;Bruno Marino ;Nicole Philip ;Tiffany Busa ;Leila Kushan-Wells ;Carrie E. Bearden ;Małgorzata Piotrowicz ;Wanda Hawuła ;Amy E. Roberts ;Flora Tassone ;Tony J. Simon ;Esther D.A. van Duin ;Thérèse A. van Amelsvoort ;Wendy R. Kates ;Elaine Zackai ;H. Richard Johnston ;David J. Cutler ;A.J. Agopian ;Elizabeth Goldmuntz ;Laura E. Mitchell ;Tao Wang ;Beverly S. EmanuelBernice E. MorrowScopus© Citations 19 9 -
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 7 -
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 1 -
PublicationDeletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2( 2018)
;Tingwei Guo ;Alexander Diacou ;Hiroko Nomaru ;Donna M McDonald-McGinn ;Matthew Hestand ;Wolfram Demaerel ;Liangtian Zhang ;Yingjie Zhao ;Francisco Ujueta ;Jidong Shan ;Cristina Montagna ;Deyou Zheng ;Terrence B Crowley ;Leila Kushan-Wells ;Carrie E Bearden ;Wendy R Kates ;Doron Gothelf ;Maude Schneider ;Stephan Eliez ;Jeroen Breckpot ;Ann Swillen ;Jacob Vorstman ;Elaine Zackai ;Beverly S Emanuel ;Anne S Bassett ;Joris R Vermeesch ;Christian R MarshallBernice E MorrowScopus© Citations 16 15 -
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