Carlos A Bacino

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. ncbi WDR62 missense mutation in a consanguineous family with primary microcephaly
    Carlos A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 158:622-5. 2012
  2. ncbi Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
    Amy Breman
    Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Prenat Diagn 32:351-61. 2012
  3. ncbi Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
    Paweł Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 33:165-79. 2012
  4. ncbi De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome
    Lindsay C Burrage
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 158:2557-63. 2012
  5. ncbi Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia
    Christian P Schaaf
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:152-6. 2011
  6. ncbi Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 146:889-903. 2011
  7. ncbi WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype
    Carlos A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Texas Children s Hospital, Houston, Texas
    Am J Med Genet A 158:2917-24. 2012
  8. ncbi Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
    Przemyslaw Szafranski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:840-50. 2010
  9. ncbi A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH)
    Luis A Umaña
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:3071-4. 2011

Collaborators

Detail Information

Publications9

  1. ncbi WDR62 missense mutation in a consanguineous family with primary microcephaly
    Carlos A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 158:622-5. 2012
    ..Studies of ASPM and WDR62 should perhaps be pursued in all cases of primary microcephaly with or without gross brain malformations...
  2. ncbi Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
    Amy Breman
    Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Prenat Diagn 32:351-61. 2012
    ..To evaluate the results of prenatal chromosomal microarray analysis (CMA) on >1000 fetal samples referred for testing at our institution and to compare these data to published reports...
  3. ncbi Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
    Paweł Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 33:165-79. 2012
    ..21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers...
  4. ncbi De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome
    Lindsay C Burrage
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 158:2557-63. 2012
    ..g., autism and psychiatric phenotypes) characteristic of maternally derived duplications of this region. We suggest that this is a rather unique mechanism leading to Prader-Willi syndrome that has not been previously reported...
  5. ncbi Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia
    Christian P Schaaf
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:152-6. 2011
    ..A more comprehensive and systematic research is warranted to study the frequency and spectrum of malformations in the central nervous system in these patients...
  6. ncbi Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
    Pengfei Liu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 146:889-903. 2011
    ..The resemblance between CGR and chromothripsis suggests similar mechanistic underpinnings. Such chromosome catastrophic events appear to reflect basic DNA metabolism operative throughout an organism's life cycle...
  7. ncbi WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype
    Carlos A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Texas Children s Hospital, Houston, Texas
    Am J Med Genet A 158:2917-24. 2012
    ..Detailed genotype-phenotype information is provided as well as discussion of previously reported cases. © 2012 Wiley Periodicals, Inc...
  8. ncbi Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
    Przemyslaw Szafranski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:840-50. 2010
    ..Nevertheless, if they prove to have a pathological effects, their high frequency could make them a common risk factor for many neurobehavioral disorders...
  9. ncbi A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH)
    Luis A Umaña
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:3071-4. 2011
    ..This is the first report in the literature of Fanconi anemia complementation group B detected by oligonucleotide array testing postnatally...