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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2023 2023 2022 2022 2021 2021 2020 2020 2019 2019 2018 2018 2017 2017 2016 2016 2015 2015 0.0 0.0 1.0 1.0 2.0 2.0 3.0 3.0 4.0 4.0 5.0 5.0

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Rare 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 , Gabriela M. Repetto , 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. Morrow , Christian R. Marshall

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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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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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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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Genome-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 , REPETTO LISBOA, MARIA GABRIELA , 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. Emanuel , Bernice E. Morrow

Background— The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. In our cohort of 1472 subjects with 22q11.2DS, a total of 62% (n=906) have congenital heart disease and 36% (n=326) of these have tetralogy of Fallot (TOF), comprising the largest subset of severe congenital heart disease in the cohort. Methods and Results— To identify common genetic variants associated with TOF in individuals with 22q11.2DS, we performed a genome-wide association study using Affymetrix 6.0 array and imputed genotype data. In our cohort, TOF was significantly associated with a genotyped single-nucleotide polymorphism (rs12519770, P =2.98×10 − 8 ) in an intron of the adhesion GPR98 (G-protein–coupled receptor V1) gene on chromosome 5q14.3. There was also suggestive evidence of association between TOF and several additional single-nucleotide polymorphisms in this region. Some genome-wide significant loci in introns or noncoding regions could affect regulation of genes nearby or at a distance. On the basis of this possibility, we examined existing Hi-C chromatin conformation data to identify genes that might be under shared transcriptional regulation within the region on 5q14.3. There are 6 genes in a topologically associated domain of chromatin with GPR98 , including MEF2C (Myocyte-specific enhancer factor 2C). MEF2C is the only gene that is known to affect heart development in mammals and might be of interest with respect to 22q11.2DS. Conclusions— In conclusion, common variants may contribute to TOF in 22q11.2DS and may function in cardiac outflow tract development.

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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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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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Deletion 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 , BENAVIDES GONZALEZ, FELIPE ORLANDO , Beverly S Emanuel , REPETTO LISBOA, MARIA GABRIELA , Anne S Bassett , Joris R Vermeesch , Christian R Marshall , Bernice E Morrow

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