Claudia M B Carvalho

Claudia M B Carvalho

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Claudia M B Carvalho

Claudia M B Carvalho

Publications by authors named "Claudia M B Carvalho"

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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

Cell 2019 Mar 28;176(6):1310-1324.e10. Epub 2019 Feb 28.

Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA; Department of Pediatrics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Dan L. Duncan Comprehensive Cancer Center, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2019.01.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438178PMC
March 2019

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Hum Mutat 2018 10 22;39(10):1456-1467. Epub 2018 Aug 22.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.23605DOI Listing
October 2018

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.

J Endocr Soc 2018 Oct 3;2(10):1100-1108. Epub 2018 Aug 3.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.

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http://dx.doi.org/10.1210/js.2018-00156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137279PMC
October 2018

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Am J Hum Genet 2017 Jul;101(1):149-156

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501868PMC
July 2017

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis.

Stem Cell Reports 2017 03 16;8(3):519-528. Epub 2017 Feb 16.

Departments of Neuroscience, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2017.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355568PMC
March 2017

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

Cell 2017 02;168(5):830-842.e7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407901PMC
February 2017

Mechanisms underlying structural variant formation in genomic disorders.

Nat Rev Genet 2016 Apr 29;17(4):224-38. Epub 2016 Feb 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/nrg.2015.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4827625PMC
April 2016

Chimeric transcripts resulting from complex duplications in chromosome Xq28.

Hum Genet 2016 Feb 14;135(2):253-6. Epub 2015 Dec 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604 BG, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-015-1614-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485664PMC
February 2016

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

Am J Hum Genet 2015 Nov;97(5):691-707

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297150040
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http://dx.doi.org/10.1016/j.ajhg.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667131PMC
November 2015

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Hum Mol Genet 2015 Jul 23;24(14):4061-77. Epub 2015 Apr 23.

Department of Molecular & Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA and

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http://dx.doi.org/10.1093/hmg/ddv146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476451PMC
July 2015

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

PLoS One 2014 9;9(9):e107028. Epub 2014 Sep 9.

Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, United States of America; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of America; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0107028PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159299PMC
May 2015

Absence of heterozygosity due to template switching during replicative rearrangements.

Am J Hum Genet 2015 Apr 19;96(4):555-64. Epub 2015 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385179PMC
April 2015

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

PLoS Genet 2015 Mar 6;11(3):e1005050. Epub 2015 Mar 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America; Texas Children's Hospital, Houston, Texas, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352052PMC
March 2015

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

Am J Hum Genet 2014 Nov 6;95(5):565-78. Epub 2014 Nov 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225592PMC
November 2014

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Eur J Hum Genet 2014 Sep 15;22(9):1071-6. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135413PMC
September 2014

Replicative mechanisms for CNV formation are error prone.

Nat Genet 2013 Nov 22;45(11):1319-26. Epub 2013 Sep 22.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Centro de Pesquisas René Rachou-FIOCRUZ, Belo Horizonte, Brazil.

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http://dx.doi.org/10.1038/ng.2768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3821386PMC
November 2013

The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.

Autism Res 2013 Feb 20;6(1):42-50. Epub 2012 Nov 20.

Departments of Pediatrics and Psychiatry, Vanderbilt University, Nashville, TN, USA.

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http://dx.doi.org/10.1002/aur.1262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578988PMC
February 2013

Inverted low-copy repeats and genome instability--a genome-wide analysis.

Hum Mutat 2013 Jan 11;34(1):210-20. Epub 2012 Oct 11.

Institute of Informatics, University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1002/humu.22217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738003PMC
January 2013

Mechanisms for recurrent and complex human genomic rearrangements.

Curr Opin Genet Dev 2012 Jun 20;22(3):211-20. Epub 2012 Mar 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.gde.2012.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378805PMC
June 2012

What have studies of genomic disorders taught us about our genome?

Methods Mol Biol 2012 ;838:1-27

Biology Department, University of St Thomas, Houston, TX, USA.

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http://dx.doi.org/10.1007/978-1-61779-507-7_1DOI Listing
April 2012

Structural variation of the human genome: mechanisms, assays, and role in male infertility.

Syst Biol Reprod Med 2011 Feb 6;57(1-2):3-16. Epub 2011 Jan 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030-3498, USA.

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http://dx.doi.org/10.3109/19396368.2010.527427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179416PMC
February 2011

Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.

Proc Natl Acad Sci U S A 2010 Jan 13;107 Suppl 1:1765-71. Epub 2010 Jan 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1073/pnas.0906222107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2868291PMC
January 2010

Complex human chromosomal and genomic rearrangements.

Trends Genet 2009 Jul 25;25(7):298-307. Epub 2009 Jun 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.tig.2009.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464790PMC
July 2009

Copy number variation at the breakpoint region of isochromosome 17q.

Genome Res 2008 Nov 19;18(11):1724-32. Epub 2008 Aug 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://genome.cshlp.org/cgi/doi/10.1101/gr.080697.108
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http://dx.doi.org/10.1101/gr.080697.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577857PMC
November 2008

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.

Cell 2007 Dec;131(7):1235-47

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, 77030, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009286740701541
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http://dx.doi.org/10.1016/j.cell.2007.11.037DOI Listing
December 2007

The phylogeography of African Brazilians.

Hum Hered 2008 25;65(1):23-32. Epub 2007 Jul 25.

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

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https://www.karger.com/Article/FullText/106059
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http://dx.doi.org/10.1159/000106059DOI Listing
November 2007

Pre- and post-Columbian gene and cultural continuity: the case of the Gaucho from southern Brazil.

Hum Hered 2007 25;64(3):160-71. Epub 2007 May 25.

Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1159/000102989DOI Listing
August 2007

Optimization of a multiplex minisequencing protocol for population studies and medical genetics.

Genet Mol Res 2005 Jun 30;4(2):115-25. Epub 2005 Jun 30.

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.

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June 2005

Lack of association between Y chromosome haplogroups and male infertility in Japanese men.

Am J Med Genet A 2003 Jan;116A(2):152-8

Departamento de Biologia Geral, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

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http://doi.wiley.com/10.1002/ajmg.a.10827
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.10827DOI Listing
January 2003