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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2024 2024 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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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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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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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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Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome

2024 , Ruiyang Ge , Christopher R. K. Ching , Anne S. Bassett , Leila Kushan , Kevin M. Antshel , Therese van Amelsvoort , Geor Bakker , Nancy J. Butcher , Linda E. Campbell , Eva W. C. Chow , Michael Craig , Nicolas A. Crossley , Adam Cunningham , Eileen Daly , Joanne L. Doherty , Courtney A. Durdle , Beverly S. Emanuel , Ania Fiksinski , Jennifer K. Forsyth , Wanda Fremont , Naomi J. Goodrich‐Hunsaker , Maria Gudbrandsen , Raquel E. Gur , Maria Jalbrzikowski , Wendy R. Kates , Amy Lin , David E. J. Linden , Kathryn L. McCabe , Donna McDonald‐McGinn , Hayley Moss , Declan G. Murphy , Kieran C. Murphy , Michael J. Owen , Julio E. Villalon‐Reina , REPETTO LISBOA, MARIA GABRIELA , David R. Roalf , Kosha Ruparel , J. Eric Schmitt , Sanne Schuite‐Koops , Kathleen Angkustsiri , Daqiang Sun , Ariana Vajdi , Marianne van den Bree , Jacob Vorstman , Paul M. Thompson , Fidel Vila‐Rodriguez , Carrie E. Bearden

Abstract22q11.2 deletion syndrome (22q11DS) is the most frequently occurring microdeletion in humans. It is associated with a significant impact on brain structure, including prominent reductions in gray matter volume (GMV), and neuropsychiatric manifestations, including cognitive impairment and psychosis. It is unclear whether GMV alterations in 22q11DS occur according to distinct structural patterns. Then, 783 participants (470 with 22q11DS: 51% females, mean age [SD] 18.2 [9.2]; and 313 typically developing [TD] controls: 46% females, mean age 18.0 [8.6]) from 13 datasets were included in the present study. We segmented structural T1‐weighted brain MRI scans and extracted GMV images, which were then utilized in a novel source‐based morphometry (SBM) pipeline (SS‐Detect) to generate structural brain patterns (SBPs) that capture co‐varying GMV. We investigated the impact of the 22q11.2 deletion, deletion size, intelligence quotient, and psychosis on the SBPs. Seventeen GMV‐SBPs were derived, which provided spatial patterns of GMV covariance associated with a quantitative metric (i.e., loading score) for analysis. Patterns of topographically widespread differences in GMV covariance, including the cerebellum, discriminated individuals with 22q11DS from healthy controls. The spatial extents of the SBPs that revealed disparities between individuals with 22q11DS and controls were consistent with the findings of the univariate voxel‐based morphometry analysis. Larger deletion size was associated with significantly lower GMV in frontal and occipital SBPs; however, history of psychosis did not show a strong relationship with these covariance patterns. 22q11DS is associated with distinct structural abnormalities captured by topographical GMV covariance patterns that include the cerebellum. Findings indicate that structural anomalies in 22q11DS manifest in a nonrandom manner and in distinct covarying anatomical patterns, rather than a diffuse global process. These SBP abnormalities converge with previously reported cortical surface area abnormalities, suggesting disturbances of early neurodevelopment as the most likely underlying mechanism.

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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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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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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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