REPETTO LISBOA, MARIA GABRIELA
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REPETTO LISBOA, MARIA GABRIELA
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grepetto@udd.cl
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57198456305

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Gathering 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 , Gabriela M. Repetto , Matthias Fischer , Sebastien Jacquemont , Raquel E. Gur , Anne M. Maillard , Kirsten A. Donald , Anne S. Bassett , Ann Swillen , Donna M. McDonald-McGinn

Background: Research participant feedback is rarely collected; therefore, investigators have limited understanding regarding stakeholders’ (affected individuals/caregivers) motivation to participate. Members of the Genes to Mental Health Network (G2MH) surveyed stakeholders affected by copy number variants (CNVs) regarding perceived incentives for study participation, opinions concerning research priorities, and the necessity for future funding. Respondents were also asked about feelings of preparedness, research burden, and satisfaction with research study participation. Methods: Modified validated surveys were used to assess stakeholders´ views across three domains: (1) Research Study Enrollment, Retainment, Withdrawal, and Future Participation; (2) Overall Research Experience, Burden, and Preparedness; (3) Research Priorities and Obstacles. Top box score analyses were performed. Results: A total of 704 stakeholders´ responded from 29 countries representing 55 CNVs. The top reasons for initial participation in the research included reasons related to education and altruism. The top reasons for leaving a research study included treatment risks and side effects. The importance of sharing research findings and laboratory results with stakeholders was underscored by participants. Most stakeholders reported positive research experiences. Conclusions: This study provides important insight into how individuals and families affected with a rare CNV feel toward research participation and their overall experience in rare disease research. There are clear targets for areas of improvement for study teams, although many stakeholders reported positive research experiences. Key findings from this international survey may help advance collaborative research and improve the experience of participants, investigators, and other stakeholders moving forward.

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Mapping 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 , REPETTO LISBOA, MARIA GABRIELA , Paul M. Thompson , Carrie E. Bearden

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Updated 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 , REPETTO LISBOA, MARIA GABRIELA , Erica Schindewolf , Maude Schneider , Cynthia B. Solot , Kathleen E. Sullivan , Ann Swillen , Marta Unolt , Jason P. Van Batavia , Claudia Vingerhoets , Jacob Vorstman , Anne S. Bassett , Donna M. McDonald-McGinn

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Updated 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 , REPETTO LISBOA, MARIA GABRIELA , 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-McGinn , Anne S. Bassett

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Chromatin 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 , REPETTO LISBOA, MARIA GABRIELA , 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 Wang , Bernice E. Morrow

AbstractCongenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification of genetic modifiers. Haploinsufficiency of TBX1, encoding a T-box transcription factor, is one of the main genes responsible for the etiology of the syndrome. We suggest that genetic modifiers of conotruncal defects in patients with 22q11.2DS may be in the TBX1 gene network. To identify genetic modifiers, we analyzed rare, predicted damaging variants in whole genome sequence of 456 cases with conotruncal defects and 537 controls, with 22q11.2DS. We then performed gene set approaches and identified chromatin regulatory genes as modifiers. Chromatin genes with recurrent damaging variants include EP400, KAT6A, KMT2C, KMT2D, NSD1, CHD7 and PHF21A. In total, we identified 37 chromatin regulatory genes, that may increase risk for conotruncal heart defects in 8.5% of 22q11.2DS cases. Many of these genes were identified as risk factors for sporadic CHD in the general population. These genes are co-expressed in cardiac progenitor cells with TBX1, suggesting that they may be in the same genetic network. The genes KAT6A, KMT2C, CHD7 and EZH2, have been previously shown to genetically interact with TBX1 in mouse models. Our findings indicate that disturbance of chromatin regulatory genes impact the TBX1 gene network serving as genetic modifiers of 22q11.2DS and sporadic CHD, suggesting that there are some shared mechanisms involving the TBX1 gene network in the etiology of CHD.

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RETRACTED: 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 , Gabriela Repetto , 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 Zhang , Michael Zwick

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Variance 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. Morrow , REPETTO LISBOA, MARIA GABRIELA

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PEMapper 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 , REPETTO LISBOA, MARIA GABRIELA , 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 Armando , Stefano Vicari

Significance PEMapper and PECaller are paired software programs that simplify mapping and variant calling for whole-genome datasets. Whole-genome sequencing data are fast becoming the most natural dataset for all genetic studies. Analysis tools for data at this scale are essential. This manuscript describes tools, which solve the challenges of data analysis at whole-genome scale, using an approach involving 16-mer mapping and SNP calling based on a Pólya–Eggenberger distribution for SNP genotypes. We show that our software package is faster (cheaper to run), uses much less disk space (cheaper to store results), requires no previous knowledge of existing genetic variation (easier to deploy to nonhuman species), and achieves calling results that are as good as Genome Analysis Toolkit best practices.

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Prenatal 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 , REPETTO LISBOA, MARIA GABRIELA , 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 Wapner , Donna M. McDonald-McGinn

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Complete 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 , REPETTO LISBOA, MARIA GABRIELA , 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 Zhang , Michael Zwick

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