Publications by authors named "Catarina M Seabra"

11Publications

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.

Authors:

Catarina M Seabra Tatsiana Aneichyk Serkan Erdin Derek J C Tai Celine E F De Esch Parisa Razaz Yu An Poornima Manavalan Ashok Ragavendran Alexei Stortchevoi Clemer Abad Juan I Young Patricia Maciel Michael E Talkowski James F Gusella

Mol Autism 2020 06 5;11(1):45. Epub 2020 Jun 5.

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

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June 2020

Social subordination induced by early life adversity rewires inhibitory control of the prefrontal cortex via enhanced Npy1r signaling.

Authors:

Lara O Franco Mário J Carvalho Jéssica Costa Pedro A Ferreira Joana R Guedes Renato Sousa Mohamed Edfawy Catarina M Seabra Ana L Cardoso João Peça

Neuropsychopharmacology 2020 08 3;45(9):1438-1447. Epub 2020 Jun 3.

CNC-Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.

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August 2020

Effects of a New Bioceramic Material on Human Apical Papilla Cells.

Authors:

Diana B Sequeira Catarina M Seabra Paulo J Palma Ana Luísa Cardoso João Peça João Miguel Santos

J Funct Biomater 2018 Dec 16;9(4). Epub 2018 Dec 16.

Institute of Endodontics, Faculty of Medicine, University of Coimbra, Coimbra 3000-075 Portugal.

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December 2018

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.

Authors:

Catarina M Seabra Nicholas Szoko Serkan Erdin Ashok Ragavendran Alexei Stortchevoi Patrícia Maciel Kathleen Lundberg Daniela Schlatzer Janice Smith Michael E Talkowski James F Gusella Marvin R Natowicz

Am J Med Genet A 2017 Sep 10;173(9):2478-2484. Epub 2017 Jul 10.

Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio.

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September 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Authors:

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 Samocha Benjamin B Currall Donncha S Dunican Ryan L Collins Jason R Willer Angela Lek Monkol Lek Malik Nassan Shahrin Pereira Tammy Kammin Diane Lucente Alexandra Silva Catarina M Seabra Colby Chiang Yu An Morad Ansari Jacqueline K Rainger Shelagh Joss Jill Clayton Smith Margaret F Lippincott Sylvia S Singh Nirav Patel Jenny W Jing Jennifer R Law Nalton Ferraro Alain Verloes Anita Rauch Katharina Steindl Markus Zweier Ianina Scheer Daisuke Sato Nobuhiko Okamoto Christina Jacobsen Jeanie Tryggestad Steven Chernausek Lisa A Schimmenti Benjamin Brasseur Claudia Cesaretti Jose E García-Ortiz Tatiana Pineda Buitrago Orlando Perez Silva Jodi D Hoffman Wolfgang Mühlbauer Klaus W Ruprecht Bart L Loeys Masato Shino Angela M Kaindl Chie-Hee Cho Cynthia C Morton Richard R Meehan Veronica van Heyningen Eric C Liao Ravikumar Balasubramanian Janet E Hall Stephanie B Seminara Daniel Macarthur Steven A Moore Koh-Ichiro Yoshiura James F Gusella Joseph A Marsh John M Graham Angela E Lin Nicholas Katsanis Peter L Jones William F Crowley Erica E Davis David R FitzPatrick Michael E Talkowski

Nat Genet 2017 05;49(6):969

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May 2017

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Genome Biol 2017 03 6;18(1):36. Epub 2017 Mar 6.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.

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March 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Authors:

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 Samocha Benjamin B Currall Donncha S Dunican Ryan L Collins Jason R Willer Angela Lek Monkol Lek Malik Nassan Shahrin Pereira Tammy Kammin Diane Lucente Alexandra Silva Catarina M Seabra Colby Chiang Yu An Morad Ansari Jacqueline K Rainger Shelagh Joss Jill Clayton Smith Margaret F Lippincott Sylvia S Singh Nirav Patel Jenny W Jing Jennifer R Law Nalton Ferraro Alain Verloes Anita Rauch Katharina Steindl Markus Zweier Ianina Scheer Daisuke Sato Nobuhiko Okamoto Christina Jacobsen Jeanie Tryggestad Steven Chernausek Lisa A Schimmenti Benjamin Brasseur Claudia Cesaretti Jose E García-Ortiz Tatiana Pineda Buitrago Orlando Perez Silva Jodi D Hoffman Wolfgang Mühlbauer Klaus W Ruprecht Bart L Loeys Masato Shino Angela M Kaindl Chie-Hee Cho Cynthia C Morton Richard R Meehan Veronica van Heyningen Eric C Liao Ravikumar Balasubramanian Janet E Hall Stephanie B Seminara Daniel Macarthur Steven A Moore Koh-Ichiro Yoshiura James F Gusella Joseph A Marsh John M Graham Angela E Lin Nicholas Katsanis Peter L Jones William F Crowley Erica E Davis David R FitzPatrick Michael E Talkowski

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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February 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:

Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B 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 Troy Gliem Margo Grady Brett H Graham 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 Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen 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 L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William 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 Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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January 2017

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

Authors:

Derek J C Tai Ashok Ragavendran Poornima Manavalan Alexei Stortchevoi Catarina M Seabra Serkan Erdin Ryan L Collins Ian Blumenthal Xiaoli Chen Yiping Shen Mustafa Sahin Chengsheng Zhang Charles Lee James F Gusella Michael E Talkowski

Nat Neurosci 2016 Mar 1;19(3):517-22. Epub 2016 Feb 1.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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March 2016

The mutational spectrum of WT1 in male infertility.

Authors:

Catarina M Seabra Sofia Quental Ana C Lima Filipa Carvalho João Gonçalves Susana Fernandes Iris Pereira Júlia Silva Patrícia I Marques Mário Sousa Alberto Barros Susana Seixas António Amorim Alexandra M Lopes

J Urol 2015 May 11;193(5):1709-15. Epub 2014 Nov 11.

Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal. Electronic address:

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May 2015

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia.

Authors:

Catarina M Seabra Sofia Quental Ana Paula Neto Filipa Carvalho João Gonçalves João Paulo Oliveira Susana Fernandes Mário Sousa Alberto Barros António Amorim Alexandra M Lopes

Reprod Biomed Online 2014 Sep 16;29(3):388-91. Epub 2014 May 16.

Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal. Electronic address:

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September 2014