Carla Rosenberg

Carla Rosenberg

She obtained her master degree in Biology (1984) and PhD in Genetics (1989) by University of São Paulo. She was a post-doctoral fellow and later Assistant Professor at Johns Hopkins University (USA). For 9 years (1996-2004) was Associate Professor at Leiden University Medical Center and, upon her return to Brazil, became Senior Researcher of the AC Camargo Cancer Center. Since 2009 she is a faculty member of the Department of Genetics and Evolutionary Biology of the Bioscience Institute of University of São Paulo. She is part of international consortia aiming to investigate the impact of genomic unbalances in diseases (Database of Chromosomal Imbalances and Phenotype in humans using Ensemble Resources – DECIPHER) and standards for clinical use of arrays (International Standards for Cytogenomic Arrays – ISCA).


Research Profile
Her research focus on the investigation of human genomic unbalances (copy number variations) and their impact in genetic disorders, including common diseases such as cancer and Alzheimer. She has experience and published over 110 papers (H=37) in human genetics and cytogenetics, with emphasis on FISH and Genomic Arrays, in particular on the diagnosis of intellectual disability and congenital malformations.


Diagnostic Activities
Diagnosis of microdeletion and microduplication syndromes by array-CGH


Total: 92

10 favourite publications

  1. Krepischi AC, Pearson PL, Rosenberg C. Germline copy number variations and cancer predisposition. Future.Oncol. 2012; 8:441-450.
  2. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am.J Hum.Genet. 2010; 86:749-764.
  3. Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C. Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenet.Genome Res. 2006; 115:254-261.


  4. Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van Haeringen A, Szuhai K, Tanke HJ. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J.Med.Genet. 2006; 43:180-186.


  5. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de SR, Carter NP. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat.Genet. 2006; 38:1032-1037.


  6. Fodde R, Kuipers J, Rosenberg C, Smits R, Kielman M, Gaspar C, van Es JH, Breukel C, Wiegant J, Giles RH, Clevers H. Mutations in the APC tumour suppressor gene cause chromosomal instability. Nat.Cell Biol. 2001; 3:433-438.


  7. Rosenberg C, Van Gurp RJ, Geelen E, Oosterhuis JW, Looijenga LH. Overrepresentation of the short arm of chromosome 12 is related to invasive growth of human testicular seminomas and nonseminomas. Oncogene 2000; 19:5858-5862.


  8. van Dekken H, Geelen E, Dinjens WN, Wijnhoven BP, Tilanus HW, Tanke HJ, Rosenberg C. Comparative genomic hybridization of cancer of the gastroesophageal junction: deletion of 14Q31-32.1 discriminates between esophageal (Barrett’s) and gastric cardia adenocarcinomas. Cancer Res. 1999; 59:748-752.


  9. Rosenberg C, Florijn RJ, Van de Rijke FM, Blonden LA, Raap TK, van Ommen GJ, den Dunnen JT. High resolution DNA fiber-fish on yeast artificial chromosomes: direct visualization of DNA replication. Nat.Genet. 1995; 10:477-479.


  10. Rosenberg C, Blakemore KJ, Kearns WG, Giraldez RA, Escallon CS, Pearson PL, Stetten G. Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique. Am.J.Hum.Genet. 1992; 50:700-705.