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Catarina M. Seabra
Researcher at University of Porto
Publications - 15
Citations - 912
Catarina M. Seabra is an academic researcher from University of Porto. The author has contributed to research in topics: Structural variation & Male infertility. The author has an hindex of 9, co-authored 13 publications receiving 699 citations. Previous affiliations of Catarina M. Seabra include Broad Institute & Institute of Molecular Pathology and Immunology of the University of Porto.
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Journal ArticleDOI
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Claire Redin,Claire Redin,Harrison Brand,Harrison Brand,Ryan L. Collins,Ryan L. Collins,Tammy Kammin,Elyse Mitchell,Jennelle C. Hodge,Jennelle C. Hodge,Jennelle C. Hodge,Carrie Hanscom,Carrie Hanscom,Vamsee Pillalamarri,Vamsee Pillalamarri,Catarina M. Seabra,Catarina M. Seabra,Catarina M. Seabra,Mary-Alice Abbott,Omar A. Abdul-Rahman,Erika Aberg,Rhett Adley,Sofia L. Alcaraz-Estrada,Fowzan S. Alkuraya,Yu An,Yu An,Mary-Anne Anderson,Caroline Antolik,Caroline Antolik,Kwame Anyane-Yeboa,Joan F. Atkin,Joan F. Atkin,Tina M. Bartell,Jonathan A. Bernstein,Elizabeth Beyer,Elizabeth Beyer,Ian Blumenthal,Ernie M.H.F. Bongers,Eva H. Brilstra,Chester W. Brown,Chester W. Brown,Hennie T. Brüggenwirth,Bert Callewaert,Colby Chiang,Ken Corning,Helen Cox,Edwin Cuppen,Benjamin Currall,Tom Cushing,Dezso David,Matthew A. Deardorff,Annelies Dheedene,Marc D'Hooghe,Bert B.A. de Vries,Dawn L. Earl,Heather L. Ferguson,Heather Fisher,David R. FitzPatrick,Pamela Gerrol,Daniela Giachino,Joseph T. Glessner,Joseph T. Glessner,Troy J. Gliem,Margo Grady,Brett H. Graham,Cristin Griffis,Cristin Griffis,Karen W. Gripp,Andrea L. Gropman,Andrea Hanson-Kahn,David J. Harris,Mark A. Hayden,Rosamund Hill,Ron Hochstenbach,Jodi D. Hoffman,Robert J. Hopkin,Robert J. Hopkin,Monika Weisz Hubshman,Monika Weisz Hubshman,A. Micheil Innes,Mira Irons,Melita Irving,Jessie C. Jacobsen,Sandra Janssens,Tamison Jewett,John P. Johnson,Marjolijn C.J. Jongmans,Stephen G. Kahler,David A. Koolen,Jerome Korzelius,Peter M. Kroisel,Yves Lacassie,William Lawless,Emmanuelle Lemyre,Kathleen A. Leppig,Kathleen A. Leppig,Alex V. Levin,Haibo Li,Hong Li,Eric C. Liao,Cynthia Lim,Edward J. Lose,Diane Lucente,Michael J. Macera,Poornima Manavalan,Giorgia Mandrile,Carlo Marcelis,Lauren Margolin,Tamara Mason,Diane Masser-Frye,Michael W. McClellan,Cinthya J Zepeda Mendoza,Björn Menten,Sjors Middelkamp,Liya R Mikami,Emily Moe,Emily Moe,Shehla Mohammed,Tarja Mononen,Megan Mortenson,Megan Mortenson,Graciela Moya,Aggie W. M. Nieuwint,Zehra Ordulu,Sandhya Parkash,Sandhya Parkash,Susan P. Pauker,Shahrin Pereira,Danielle Perrin,Katy Phelan,Raul Eduardo Pina Aguilar,Pino J. Poddighe,Giulia Pregno,Salmo Raskin,Linda M. Reis,Linda M. Reis,William J. Rhead,William J. Rhead,Debra Rita,Ivo Renkens,Filip Roelens,Jayla Ruliera,Patrick Rump,Samantha L.P. Schilit,Ranad Shaheen,Rebecca Sparkes,Erica Spiegel,Blair Stevens,Matthew R. Stone,Matthew R. Stone,Julia Tagoe,Joseph V. Thakuria,Bregje W.M. van Bon,Jiddeke M. van de Kamp,Ineke van der Burgt,Ton van Essen,Conny M. A. van Ravenswaaij-Arts,Markus J. van Roosmalen,Sarah Vergult,Catharina M L Volker-Touw,Dorothy Warburton,Matthew J. Waterman,Matthew J. Waterman,Susan Wiley,Anna Wilson,Maria de la Concepcion A Yerena-de Vega,Roberto T. Zori,Brynn Levy,Han G. Brunner,Han G. Brunner,Nicole de Leeuw,Wigard P. Kloosterman,Erik C. Thorland,Cynthia C. Morton,Cynthia C. Morton,Cynthia C. Morton,James F. Gusella,James F. Gusella,Michael E. Talkowski,Michael E. Talkowski +179 more
TL;DR: It is proposed that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
Journal ArticleDOI
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Ryan L. Collins,Ryan L. Collins,Harrison Brand,Harrison Brand,Claire Redin,Claire Redin,Carrie Hanscom,Carrie Hanscom,Caroline Antolik,Caroline Antolik,Matthew R. Stone,Matthew R. Stone,Joseph T. Glessner,Joseph T. Glessner,Tamara Mason,Giulia Pregno,Naghmeh Dorrani,Giorgia Mandrile,Daniela Giachino,Danielle Perrin,Cole Walsh,Michelle Cipicchio,Maura Costello,Alexei Stortchevoi,Alexei Stortchevoi,Joon Yong An,Benjamin Currall,Benjamin Currall,Catarina M. Seabra,Catarina M. Seabra,Catarina M. Seabra,Ashok Ragavendran,Ashok Ragavendran,Lauren Margolin,Julian A. Martinez-Agosto,Diane Lucente,Brynn Levy,Stephen Sanders,Ronald J. Wapner,Fabiola Quintero-Rivera,Wigard P. Kloosterman,Michael E. Talkowski,Michael E. Talkowski +42 more
TL;DR: A genome-wide map of large SV is constructed and 16 recurrent subclasses of complex SV (cxSV) are characterized, revealing that cxSV are larger and rarer than canonical SV and should be considered in genomic studies of human disease.
Journal ArticleDOI
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Alexandra M. Lopes,Kenneth I. Aston,Emma E. Thompson,Filipa Carvalho,João Gonçalves,Ni Huang,Rune Matthiesen,Michiel J. Noordam,Inés Quintela,Avinash Ramu,Catarina M. Seabra,Amy B. Wilfert,Juncheng Dai,Jonathan M. Downie,Susana Fernandes,Xuejiang Guo,Jiahao Sha,António Amorim,Alberto Barros,Angel Carracedo,Zhibin Hu,Matthew E. Hurles,Sergey I. Moskovtsev,Carole Ober,Darius A. Paduch,Joshua D. Schiffman,Peter N. Schlegel,Mário Sousa,Douglas T. Carrell,Donald F. Conrad +29 more
TL;DR: The combined results indicate that DMRT1 loss-of-function mutations are a risk factor and potential genetic cause of human spermatogenic failure and identifies other recurrent CNVs as potential causes of idiopathic azoospermia.
Journal ArticleDOI
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D. Shaw,Natalie D. Shaw,Harrison Brand,Harrison Brand,Zachary A. Kupchinsky,Hemant Bengani,Lacey Plummer,Takako I. Jones,Serkan Erdin,Serkan Erdin,Kathleen A. Williamson,Joe Rainger,Alexei Stortchevoi,Kaitlin E. Samocha,Kaitlin E. Samocha,Benjamin Currall,Donncha S. Dunican,Ryan L. Collins,Jason R. Willer,Angela Lek,Monkol Lek,Monkol Lek,Malik Nassan,Shahrin Pereira,Tammy Kammin,Diane Lucente,Alexandra Silva,Catarina M. Seabra,Catarina M. Seabra,Colby Chiang,Yu An,Morad Ansari,Jacqueline K. Rainger,Shelagh Joss,Jill Clayton Smith,Margaret F. Lippincott,Sylvia S. Singh,Nirav J. Patel,Jenny Jing,Jennifer R. Law,Nalton F. Ferraro,Alain Verloes,Anita Rauch,Katharina Steindl,Markus Zweier,Ianina Scheer,Daisuke Sato,Nobuhiko Okamoto,Christina Jacobsen,Jeanie B. Tryggestad,Steven D. Chernausek,Lisa A. Schimmenti,Benjamin Brasseur,Claudia Cesaretti,José Elías García-Ortiz,Tatiana Pineda Buitrago,Orlando Perez Silva,Jodi D. Hoffman,Wolfgang Mühlbauer,Klaus W. Ruprecht,Bart Loeys,Masato Shino,Angela M. Kaindl,Chie Hee Cho,Cynthia C. Morton,Cynthia C. Morton,Richard R. Meehan,Veronica van Heyningen,Eric C. Liao,Ravikumar Balasubramanian,Janet E. Hall,Stephanie B. Seminara,Stephanie B. Seminara,Daniel G. MacArthur,Steven A. Moore,Steven A. Moore,Koh-ichiro Yoshiura,James F. Gusella,Joseph A. Marsh,John Graham,Angela E. Lin,Nicholas Katsanis,Peter L. Jones,William F. Crowley,Erica E. Davis,David R. FitzPatrick,Michael E. Talkowski,Michael E. Talkowski,Michael E. Talkowski +88 more
TL;DR: In this article, the authors found that SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (vol 49, pg 238, 2017)
Natalie D. Shaw,Harrison Brand,Zachary A. Kupchinsky,Hemant Bengani,Lacey Plummer,Takako I. Jones,Serkan Erdin,Kathleen A. Williamson,Joe Rainger,Alexei Stortchevoi,Kaitlin E. Samocha,Benjamin Currall,Donncha S. Dunican,Ryan L. Collins,Willer,Angela Lek,Monkol Lek,Malik Nassan,Shahrin Pereira,Tammy Kammin,Diane Lucente,A Silva,Catarina M. Seabra,Colby Chiang,Yu An,Morad Ansari,Jacqueline K. Rainger,Shelagh Joss,JC Smith,Margaret F. Lippincott,Shilpi Singh,Nirav J. Patel,Jenny Jing,Law,Nalton F. Ferraro,Alain Verloes,Anita Rauch,Katharina Steindl,Markus Zweier,Ianina Scheer,Daisuke Sato,Nobuhiko Okamoto,Christina Jacobsen,Jeanie B. Tryggestad,Steven D. Chernausek,Lisa A. Schimmenti,Benjamin Brasseur,Claudia Cesaretti,José Elías García-Ortiz,Tatiana Pineda Buitrago,Orlando Perez Silva,Jodi D. Hoffman,Wolfgang Mühlbauer,KW Ruprecht,Bart Loeys,Masato Shino,Angela M. Kaindl,C-H Cho,Cynthia C. Morton,Richard R. Meehan,van Heyningen,Eric C. Liao,Ravikumar Balasubramanian,Janet E. Hall,Stephanie B. Seminara,Daniel G. MacArthur,Steven A. Moore,K-I Yoshiura,James F. Gusella,Joseph A. Marsh,John M. Graham,Ae Lin,Nicholas Katsanis,Peter L. Jones,William F. Crowley,Erica E. Davis,FitzPatrick,Michael E. Talkowski +77 more
TL;DR: Mutations in SMCHD1 contribute to distinct phenotypic spectra, from craniofacial malformation and reproductive disorders to muscular dystrophy, which are speculated to be consistent with oligogenic mechanisms resulting in pleiotropic outcomes.