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Translational Biology & Molecular Medicine

Houston, Texas

Benchtop, Research, Bedside and Application
Translational Biology & Molecular Medicine Graduate Program
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Carlos A. Bacino, M.D.

Carlos A. Bacino, M.D.Professor
Department of Molecular and Human Genetics

Phone: 832-822-4291
Fax: 832-825-4294


  • M.D., University of Buenos Aires
  • Residency, Pediatrics, Beth Israel Medical Center
  • Fellowship, Clinical Genetics and Cytogenetics, Cedars-Sinai Medical Center

Research Interests

  • Epigenetics and disorders of imprinting
  • Structural chromosomes abnormalities and genomic disorders

Clinical Focus

  • Management and diagnosis of patients with birth defects
  • Genomic disorders
  • Skeletal dysplasias
  • Angelman/Prader Willi Syndrome

Selected Publications

  • Berg JS, Potocki L, Bacino CA (2010). Common recurrent microduplication syndromes: diagnosis and management in clinical practice. Am. J. Med. Genet. A. 152A(5): 1066-78.
  • Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH (2010). Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am. J. Hum. Genet. 87(5): 708-12.
  • Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA (2010). Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am. J. Med. Genet. A. 152A(7): 1825-31.
  • Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA (2009). Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am. J. Med. Genet. A. 149A(9): 1916-21.
  • Yatsenko SA, del Valle Torrado M, Fernandes PH, Wiszniewska J, Gallego M, Herrera J, Bacino CA (2009). Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome. Am. J. Med. Genet. A. 149A(12): 2723-30.
  • Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA (2008). Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am. J. Med. Genet. A. 146A(21): 2804-9.
  • Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA (2007). Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin. Genet. 72(4): 329-38.
  • Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU (2007). Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur. J. Hum. Genet. 15(9): 943-9.
  • Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA (2007). Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am. J. Med. Genet. A. 143A(8): 791-8.
  • Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA (2006). Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. J. Med. Genet. 43(6): 512-6.

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