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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 95
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PublicationGENES TO MENTAL HEALTH NETWORK REPORT: STAKEHOLDERS' PERSPECTIVES ON RESEARCH PARTICIPATION( 2021)
;Crowley, T. B. ;White, L ;Finucane, B. ;Garcia-Minaur, S. ;Fischer, M. ;Jacquemont, S. ;Gur, R. ;Maillard, A. ;Donald, K. ;Bassett, A. ;Swillen, A.McDonald-McGinn, D. M. -
PublicationNistagmo secundario a albinismo con compromiso ocular en paciente femenina( 2020)
;Luisa Schonhaut B. ;Joanna Britzmann L. ;Mario Zanolli S. ;Jovanka Pavlov N. ;Trinidad Hasbun Z. -
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PublicationExpanding the CFTR mutation spectrum in Chilean patients with cystic fi brosis( 2012)
;Vásquez D, Marcos ;Lay-Son R, Guillermo ;Vial U, Felipe ;Boza C, María Lina ;Contreras E, Ilse ;Lozano C, Jaime ;Zenteno A, Daniel -
PublicationReverse phenotyping of whole-genome sequencing data from patients with 22q11.2 deletions identifies an extensive catalog of broader phenotypic variability and benign variation in pathogenic disease genes( 2018)
;Hestand, MS ;Nowakowska, BA ;Vergaelen, E ;Demaerel, W ;Breckpot, J ;Cutler, DJ ;Crowley, TB ;Armando, M ;Philip, N ;Schneider, M ;Eliez, S ;Devriendt, K ;McDonald-McGinn, DM ;Morrow, BE ;Swillen, AVermeesch, JR -
PublicationGenomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis( 2024)
;Florencia Brito ;Catalina Lagos ;Jessica Cubillos ;Joan Orellana ;Mallen Gajardo ;Daniela Böhme ;Gonzalo Encina13 -
PublicationMapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness( 2020)
;Christopher R.K. Ching ;Boris A. Gutman ;Daqiang Sun ;Julio Villalon Reina ;Anjanibhargavi Ragothaman ;Dmitry Isaev ;Artemis Zavaliangos-Petropulu ;Amy Lin ;Rachel K. Jonas ;Leila Kushan ;Laura Pacheco-Hansen ;Ariana Vajdi ;Jennifer K. Forsyth ;Maria Jalbrzikowski ;Geor Bakker ;Therese van Amelsvoort ;Kevin M. Antshel ;Wanda Fremont ;Wendy R. Kates ;Linda E. Campbell ;Kathryn L. McCabe ;Michael C. Craig ;Eileen Daly ;Maria Gudbrandsen ;Clodagh M. Murphy ;Declan G. Murphy ;Kieran C. Murphy ;Ania Fiksinski ;Sanne Koops ;Jacob Vorstman ;T. Blaine Crowley ;Beverly S. Emanuel ;Raquel E. Gur ;Donna M. McDonald-McGinn ;David R. Roalf ;Kosha Ruparel ;J. Eric Schmitt ;Elaine H. Zackai ;Courtney A. Durdle ;Naomi J. Goodrich-Hunsaker ;Tony J. Simon ;Anne S. Bassett ;Nancy J. Butcher ;Eva W.C. Chow ;Fidel Vila-Rodriguez ;Adam Cunningham ;Joanne Doherty ;David E. Linden ;Hayley Moss ;Michael J. Owen ;Marianne van den Bree ;Nicolas A. Crossley ;Paul M. ThompsonCarrie E. BeardenScopus© Citations 44 5 -
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 -