M
Mafalda Barbosa
Researcher at Icahn School of Medicine at Mount Sinai
Publications - 30
Citations - 3915
Mafalda Barbosa is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Autism & Copy-number variation. The author has an hindex of 15, co-authored 28 publications receiving 2550 citations. Previous affiliations of Mafalda Barbosa include Instituto Gulbenkian de Ciência & Instituto Nacional de Saúde Dr. Ricardo Jorge.
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Journal ArticleDOI
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom,F. Kyle Satterstrom,Jack A. Kosmicki,Jiebiao Wang,Michael S. Breen,Silvia De Rubeis,Joon Yong An,Joon Yong An,Minshi Peng,Ryan Collins,Jakob Grove,Jakob Grove,Lambertus Klei,Christine Stevens,Jennifer Reichert,Maureen Mulhern,Mykyta Artomov,Sherif Gerges,Brooke Sheppard,Xinyi Xu,Aparna Bhaduri,Utku Norman,Harrison Brand,Grace Schwartz,Rachel Nguyen,Elizabeth E. Guerrero,Caroline Dias,Branko Aleksic,Richard Anney,Mafalda Barbosa,Somer L. Bishop,Alfredo Brusco,Jonas Bybjerg-Grauholm,Angel Carracedo,Marcus C.Y. Chan,Andreas G. Chiocchetti,Brian H.Y. Chung,Hilary Coon,Michael L. Cuccaro,Aurora Currò,Bernardo Dalla Bernardina,Ryan N. Doan,Enrico Domenici,Shan Dong,Chiara Fallerini,Montserrat Fernández-Prieto,Giovanni Battista Ferrero,Christine M. Freitag,Menachem Fromer,J. Jay Gargus,Daniel H. Geschwind,Elisa Giorgio,Javier González-Peñas,Stephen J. Guter,Danielle Halpern,Emily Hansen-Kiss,Xin He,Gail E. Herman,Irva Hertz-Picciotto,David M. Hougaard,Christina M. Hultman,Iuliana Ionita-Laza,Suma Jacob,Jesslyn Jamison,Astanand Jugessur,Miia Kaartinen,Gun Peggy Knudsen,Alexander Kolevzon,Itaru Kushima,So Lun Lee,Terho Lehtimäki,Elaine T. Lim,Carla Lintas,W. Ian Lipkin,Diego Lopergolo,Fátima Lopes,Yunin Ludena,Patrícia Maciel,Per Magnus,Behrang Mahjani,Nell Maltman,Dara S. Manoach,Gal Meiri,Idan Menashe,Judith Miller,Nancy J. Minshew,Eduarda Montenegro M. de Souza,Danielle de Paula Moreira,Eric M. Morrow,Ole Mors,Preben Bo Mortensen,Matthew W. Mosconi,Pierandrea Muglia,Benjamin M. Neale,Merete Nordentoft,Norio Ozaki,Aarno Palotie,Mara Parellada,Maria Rita Passos-Bueno,Margaret A. Pericak-Vance,Antonio M. Persico,Isaac N. Pessah,Kaija Puura,Abraham Reichenberg,Alessandra Renieri,Evelise Riberi,Elise B. Robinson,Elise B. Robinson,Kaitlin E. Samocha,Sven Sandin,Sven Sandin,Susan L. Santangelo,Susan L. Santangelo,Gerry Schellenberg,Stephen W. Scherer,Sabine Schlitt,Rebecca J. Schmidt,Lauren M. Schmitt,Isabela Maya Wahys Silva,Tarjinder Singh,Tarjinder Singh,Paige M. Siper,Moyra Smith,Gabriela Soares,Camilla Stoltenberg,Pål Surén,Ezra Susser,John A. Sweeney,Peter Szatmari,Lara Tang,Flora Tassone,Karoline Teufel,Elisabetta Trabetti,Maria del Pilar Trelles,Christopher A. Walsh,Lauren A. Weiss,Thomas Werge,Donna M. Werling,Emilie M. Wigdor,Emilie M. Wigdor,Emma Wilkinson,A. Jeremy Willsey,Timothy W. Yu,Mullin H.C. Yu,Ryan Yuen,Elaine Cristina Zachi,Esben Agerbo,Thomas Damm Als,Vivek Appadurai,Marie Bækvad-Hansen,Rich Belliveau,Alfonso Buil,Caitlin E. Carey,Felecia Cerrato,Kimberly Chambert,Claire Churchhouse,Claire Churchhouse,Søren Dalsgaard,Ditte Demontis,Ashley Dumont,Jacqueline I. Goldstein,Christine Søholm Hansen,Mads E. Hauberg,Mads E. Hauberg,Mads E. Hauberg,Mads V. Hollegaard,Daniel P. Howrigan,Hailiang Huang,Julian Maller,Alicia R. Martin,Joanna Martin,Manuel Mattheisen,Jennifer L. Moran,Jonatan Pallesen,Duncan S. Palmer,Carsten Bøcker Pedersen,Marianne Giørtz Pedersen,Timothy Poterba,Jesper Buchhave Poulsen,Stephan Ripke,Andrew J. Schork,Wesley K. Thompson,Patrick Turley,Raymond K. Walters,Catalina Betancur,Edwin H. Cook,Louise Gallagher,Michael Gill,James S. Sutcliffe,Audrey Thurm,Michael E. Zwick,Anders D. Børglum,Matthew W. State,A. Ercument Cicek,A. Ercument Cicek,Michael E. Talkowski,David J. Cutler,Bernie Devlin,Stephen Sanders,Kathryn Roeder,Mark J. Daly,Joseph D. Buxbaum +201 more
TL;DR: The largest exome sequencing study of autism spectrum disorder (ASD) to date, using an enhanced analytical framework to integrate de novo and case-control rare variation, identifies 102 risk genes at a false discovery rate of 0.1 or less, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.
Journal ArticleDOI
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto,Elsa Delaby,Elsa Delaby,Elsa Delaby,Daniele Merico,Mafalda Barbosa,Alison K. Merikangas,Lambertus Klei,Bhooma Thiruvahindrapuram,Xiao Xu,Robert Ziman,Zhuozhi Wang,Jacob A. S. Vorstman,Ann P. Thompson,Regina Regan,Regina Regan,Marion Pilorge,Marion Pilorge,Marion Pilorge,Giovanna Pellecchia,Alistair T. Pagnamenta,Bárbara Oliveira,Bárbara Oliveira,Christian R. Marshall,Tiago R. Magalhaes,Tiago R. Magalhaes,Jennifer K. Lowe,Jennifer L. Howe,Anthony J. Griswold,John R. Gilbert,Eftichia Duketis,Beth A. Dombroski,Maretha de Jonge,Michael L. Cuccaro,Emily L. Crawford,Catarina Correia,Catarina Correia,Judith Conroy,Inȇs C. Conceição,Inȇs C. Conceição,Andreas G. Chiocchetti,Jillian P. Casey,Jillian P. Casey,Guiqing Cai,Christelle Cabrol,Christelle Cabrol,Christelle Cabrol,Nadia Bolshakova,Elena Bacchelli,Richard Anney,Steven Gallinger,Michelle Cotterchio,Graham Casey,Lonnie Zwaigenbaum,Kerstin Wittemeyer,Kirsty Wing,Simon Wallace,Herman van Engeland,Ana Tryfon,Susanne Thomson,Latha Soorya,Bernadette Rogé,Wendy Roberts,Fritz Poustka,Susana Mouga,Nancy J. Minshew,L. Alison McInnes,Susan G. McGrew,Catherine Lord,Marion Leboyer,Ann Le Couteur,Alexander Kolevzon,Patricia Jiménez González,Suma Jacob,Suma Jacob,Richard Holt,Stephen J. Guter,Jonathan Green,Andrew Green,Andrew Green,Christopher Gillberg,Bridget A. Fernandez,Frederico Duque,Richard Delorme,Geraldine Dawson,Pauline Chaste,Cátia Café,Sean Brennan,Thomas Bourgeron,Patrick Bolton,Patrick Bolton,Sven Bölte,Raphael Bernier,Gillian Baird,Anthony J. Bailey,Evdokia Anagnostou,Joana Almeida,Ellen M. Wijsman,Veronica J. Vieland,Astrid M. Vicente,Astrid M. Vicente,Gerard D. Schellenberg,Margaret A. Pericak-Vance,Andrew D. Paterson,Jeremy R. Parr,Guiomar Oliveira,John I. Nurnberger,Anthony P. Monaco,Anthony P. Monaco,Elena Maestrini,Sabine M. Klauck,Hakon Hakonarson,Jonathan L. Haines,Daniel H. Geschwind,Christine M. Freitag,Susan E. Folstein,Sean Ennis,Sean Ennis,Hilary Coon,Agatino Battaglia,Peter Szatmari,James S. Sutcliffe,Joachim Hallmayer,Michael Gill,Edwin H. Cook,Joseph D. Buxbaum,Bernie Devlin,Louise Gallagher,Catalina Betancur,Catalina Betancur,Catalina Betancur,Stephen W. Scherer +131 more
TL;DR: For example, the authors analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability.
Journal ArticleDOI
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom,Jack A. Kosmicki,Jiebiao Wang,Michael S. Breen,Michael S. Breen,Silvia De Rubeis,Joon Yong An,Minshi Peng,Ryan L. Collins,Jakob Grove,Lambertus Klei,Christine Stevens,Jennifer Reichert,Maureen Mulhern,Mykyta Artomov,Sherif Gerges,Brooke Sheppard,Xinyi Xu,Aparna Bhaduri,Utku Norman,Harrison Brand,Grace Schwartz,Rachel Nguyen,Elizabeth E. Guerrero,Caroline Dias,Branko Aleksic,Mafalda Barbosa,Somer L. Bishop,Alfredo Brusco,Jonas Bybjerg-Grauholm,Angel Carracedo,Marcus C.Y. Chan,Andreas G. Chiocchetti,Brian H.Y. Chung,Hilary Coon,Michael L. Cuccaro,Aurora Currò,Bernardo Dalla Bernardina,Ryan N. Doan,Enrico Domenici,Shan Dong,Chiara Fallerini,Montserrat Fernández-Prieto,Giovanni Battista Ferrero,Christine M. Freitag,Menachem Fromer,J. Jay Gargus,Elisa Giorgio,Javier González-Peñas,Stephen J. Guter,Danielle Halpern,Emily Hansen-Kiss,Xin He,Gail E. Herman,Irva Hertz-Picciotto,David M. Hougaard,Christina M. Hultman,Iuliana Ionita-Laza,Suma Jacob,Jesslyn Jamison,Astanand Jugessur,Miia Kaartinen,Gun Peggy Knudsen,Alexander Kolevzon,Itaru Kushima,So Lun Lee,Terho Lehtimäki,Elaine T. Lim,Carla Lintas,W. Ian Lipkin,Diego Lopergolo,Fátima Lopes,Yunin Ludena,Patrícia Maciel,Per Magnus,Behrang Mahjani,Nell Maltman,Dara S. Manoach,Gal Meiri,Idan Menashe,Judith Miller,Nancy J. Minshew,Eduarda Montenegro M. de Souza,Danielle de Paula Moreira,Eric M. Morrow,Ole Mors,Preben Bo Mortensen,Matthew W. Mosconi,Pierandrea Muglia,Benjamin M. Neale,Merete Nordentoft,Norio Ozaki,Aarno Palotie,Mara Parellada,Maria Rita Passos-Bueno,Margaret A. Pericak-Vance,Antonio M. Persico,Isaac N. Pessah,Kaija Puura,Abraham Reichenberg,Alessandra Renieri,Evelise Riber,Elise B. Robinson,Kaitlin E. Samocha,Sven Sandin,Susan L. Santangelo,Gerry Schellenberg,Stephen W. Scherer,Sabine Schlitt,Rebecca J. Schmidt,Lauren M. Schmitt,Isabela Maya Wahys Silva,Tarjinder Singh,Paige M. Siper,Moyra Smith,Gabriela Soares,Camilla Stoltenberg,Pål Surén,Ezra Susser,John A. Sweeney,Peter Szatmari,Flora Tassone,Karoline Teufel,Elisabetta Trabetti,Maria del Pilar Trelles,Christopher T. Walsh,Lara Tang,Lauren A. Weiss,Thomas Werge,Donna M. Werling,Emilie M. Wigdor,Emma Wilkinson,A. Jeremy Willsey,Timothy W. Yu,Mullin H.C. Yu,Ryan Yuen,Elaine Cristina Zachi,Catalina Betancur,Edwin H. Cook,Louise Gallagher,Michael Gill,James S. Sutcliffe,Audrey Thurm,Michael E. Zwick,Anders D. Børglum,Matthew W. State,A. Ercument Cicek,Michael E. Talkowski,David J. Cutler,Bernie Devlin,Stephen Sanders,Kathryn Roeder,Mark J. Daly,Joseph D. Buxbaum +153 more
TL;DR: Using an enhanced Bayesian framework to integrate de novo and case-control rare variation, 102 risk genes are identified at a false discovery rate of ≤ 0.1, consistent with multiple paths to an excitatory/inhibitory imbalance underlying ASD.
Journal ArticleDOI
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Alexander Hoischen,Bregje W.M. van Bon,Christian Gilissen,Peer Arts,Bart van Lier,Marloes Steehouwer,Petra de Vries,Rick de Reuver,Nienke Wieskamp,Geert Mortier,Koenraad Devriendt,Marta Z Amorim,Nicole Revencu,Alexa Kidd,Mafalda Barbosa,Anne M. Turner,Janine Smith,Christina Oley,Alex Henderson,Ian Hayes,Elizabeth Thompson,Han G. Brunner,Bert B.A. de Vries,Joris A. Veltman +23 more
TL;DR: The exomes of four affected individuals (cases) were sequenced and heterozygous de novo variants in SETBP1 in all four and mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.
Journal ArticleDOI
Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
Gijs W. E. Santen,Emmelien Aten,Anneke T. Vulto-van Silfhout,Caroline Pottinger,Bregje W.M. van Bon,Ivonne J H M van Minderhout,Ronelle Snowdowne,Christian A.C. Van der Lans,Merel W. Boogaard,Margot M L Linssen,Linda Vijfhuizen,Michiel J R van der Wielen,M. J Ellen Vollebregt,Martijn H. Breuning,Marjolein Kriek,Arie van Haeringen,Johan T. den Dunnen,Alexander Hoischen,Jill Clayton-Smith,Bert B.A. de Vries,Raoul C.M. Hennekam,Martine J. van Belzen,Mariam Almureikhi,Anwar Baban,Mafalda Barbosa,Tawfeg Ben-Omran,Katherine Berry,Stefania Bigoni,Odile Boute,Louise Brueton,Ineke van der Burgt,Natalie Canham,Kate Chandler,Krystyna H. Chrzanowska,Amanda L. Collins,Teresa De Toni,John Dean,Nicolette S. den Hollander,Leigh Anne Flore,Alan Fryer,Alice Gardham,John M. Graham,Victoria Harrison,Denise Horn,Marjolijn C.J. Jongmans,Dragana Josifova,Sarina G. Kant,Seema Kapoor,Helen Kingston,Usha Kini,Tjitske Kleefstra,Krajewska-Walasek Malgorzata Krajewska-Walasek,Nancy Kramer,Saskia M. Maas,Patrícia Maciel,M. S Mancini Grazia,Isabelle Maystadt,Shane McKee,Jeff M. Milunsky,Sheela Nampoothiri,Ruth Newbury-Ecob,Sarah M. Nikkel,Michael J. Parker,Luis A. Pérez-Jurado,Stephen P. Robertson,Caroline Rooryck,Debbie Shears,Margherita Silengo,Ankur Singh,Robert Smigiel,Gabriela Soares,Miranda Splitt,Helen Stewart,Elizabeth Sweeney,May Tassabehji,I. Karen Temple,Beyhan Tüysüz,Albertien M. van Eerde,Catherine Vincent-Delorme,Louise C. Wilson,Gozde Yesil +80 more
TL;DR: The emerging phenotype–genotype correlation is that SMARCB1 patients have the most marked physical phenotype and severe cognitive and growth delay, and the variability in phenotype seems most marked in ARIDs1A and ARID1B patients.