Claudia M.B. Carvalho

Claudia M.B. Carvalho publication distribution in Biology and Biochemistry in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Biology and Biochemistry in 2026. The highlighted bar marks where Claudia M.B. Carvalho sits on this spectrum.

Claudia M.B. Carvalho D-index placement in Biology and Biochemistry in 2026

The chart shows the D-index (discipline H-index) distribution of Biology and Biochemistry scientists ranked by Research.com in 2026. The highlighted bar marks where Claudia M.B. Carvalho sits on this spectrum.

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