Claudia M.B. Carvalho

Overview

Best Publications

• A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

  Jennifer A. Lee;Claudia M.B. Carvalho;James R. Lupski;James R. Lupski

  1046
  Citations

• Mechanisms underlying structural variant formation in genomic disorders

  Claudia M. B. Carvalho;Claudia M. B. Carvalho;James R. Lupski

  671
  Citations

• Implications of Placebo and Nocebo Effects for Clinical Practice: Expert Consensus.

  Andrea W M Evers;Luana Colloca;Charlotte Blease;Marco Annoni

  553
  Citations

• Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

  Lorraine Potocki;Weimin Bi;Diane Treadwell-Deering;Claudia M. B. Carvalho

  449
  Citations

• Open-label placebo treatment in chronic low back pain: a randomized controlled trial

  Cláudia Maria Constante Ferreira de Carvalho;Joaquim António Machado Caetano;Lidia Cunha;Paula Rebouta

  399
  Citations

• Mechanisms for recurrent and complex human genomic rearrangements.

  Pengfei Liu;Claudia M B Carvalho;P J Hastings;James R Lupski;James R Lupski

  384
  Citations

• The complete genome sequence of Chromobacterium violaceum reveals remarkable and exploitable bacterial adaptability

  Ana Tereza Ribeiro de Vasconcelos;Darcy F. De Almeida;Mariangela Hungria;Claudia Teixeira Guimarães

  374
  Citations

• Autism and other Neuropsychiatric Symptoms are Prevalent in Individuals with MECP2 Duplication Syndrome

  Melissa B. Ramocki;Melissa B. Ramocki;Sarika U. Peters;Sarika U. Peters;Y. Jane Tavyev;Feng Zhang

  328
  Citations

• Complex human chromosomal and genomic rearrangements

  Feng Zhang;Claudia M.B. Carvalho;James R. Lupski;James R. Lupski

  294
  Citations

• Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

  Claudia M.B. Carvalho;Feng Zhang;Pengfei Liu;Ankita Patel

  222
  Citations

• Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

  Claudia M B Carvalho;Melissa B Ramocki;Melissa B Ramocki;Davut Pehlivan;Luis M Franco

  222
  Citations

• Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.

  Zeynep Coban-Akdemir;Janson J. White;Xiaofei Song;Shalini N. Jhangiani

  185
  Citations

• ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

  Rim Hjeij;Anna Lindstrand;Richard Francis;Maimoona A. Zariwala

  180
  Citations

• Insights into genetics, human biology and disease gleaned from family based genomic studies.

  Jennifer E. Posey;Anne H. O’Donnell-Luria;Anne H. O’Donnell-Luria;Anne H. O’Donnell-Luria;Jessica X. Chong;Tamar Harel

  177
  Citations

• Replicative mechanisms for CNV formation are error prone.

  Claudia M B Carvalho;Davut Pehlivan;Melissa B Ramocki;Melissa B Ramocki;Ping Fang

  160
  Citations

• Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

  M. Cecilia Poli;M. Cecilia Poli;M. Cecilia Poli;Frédéric Ebstein;Sarah K. Nicholas;Sarah K. Nicholas;Marietta M. de Guzman;Marietta M. de Guzman

  144
  Citations

• DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

  Janson White;Juliana F. Mazzeu;Alexander Hoischen;Shalini N. Jhangiani

  135
  Citations

• From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

  Anna Lindstrand;Anna Lindstrand;Jesper Eisfeldt;Maria Pettersson;Maria Pettersson;Claudia M. B. Carvalho

  128
  Citations

• Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

  Tomasz Gambin;Tomasz Gambin;Zeynep C. Akdemir;Bo Yuan;Shen Gu

  126
  Citations

• Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

  Anna Lindstrand;Stephan Frangakis;Claudia M.B. Carvalho;Claudia M.B. Carvalho;Ellen B. Richardson

  124
  Citations