Carlos A Bacino

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. doi request reprint 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. pmc TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities
    Wojciech Wiszniewski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 93:197-210. 2013
  3. doi request reprint Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 15:450-7. 2013
  4. pmc Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy
    Ian M Campbell
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 9:e1003797. 2013
  5. doi request reprint 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
  6. pmc 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 77030, USA
    Am J Med Genet A 158:2917-24. 2012
  7. pmc 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
  8. doi request reprint 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
  9. pmc Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 21:173-81. 2013
  10. pmc NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
    Piotr Dittwald
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 23:1395-409. 2013

Collaborators

Detail Information

Publications16

  1. doi request reprint 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. pmc TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities
    Wojciech Wiszniewski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 93:197-210. 2013
    ....
  3. doi request reprint Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 15:450-7. 2013
    ..In the era of genomic arrays, the value of traditional chromosome analysis needs to be reassessed...
  4. pmc Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy
    Ian M Campbell
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 9:e1003797. 2013
    ..We propose a potential use in clinical decision support for our results in the context of genome-wide screening. Our approach demonstrates the utility of integrative data in medical genomics. ..
  5. doi request reprint 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...
  6. pmc 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 77030, USA
    Am J Med Genet A 158:2917-24. 2012
    ..Detailed genotype-phenotype information is provided as well as discussion of previously reported cases...
  7. pmc 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...
  8. doi request reprint 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...
  9. pmc Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 21:173-81. 2013
    ..Our findings implicate rare variants such as 16q24.3 loss and 2q31.3-q32.1 loss, and delineate regions within previously reported structural variants known to cause CVMs...
  10. pmc NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
    Piotr Dittwald
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 23:1395-409. 2013
    ..2q13, were elucidated in association with novel genomic disorders. Our study quantitates genome architectural features responsible for NAHR-mediated genomic instability and further elucidates the role of NAHR in human disease. ..
  11. pmc 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...
  12. pmc 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...
  13. ncbi request reprint Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis
    Sirisha Peddibhotla
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Department of Pediatrics Hematology Oncology, Baylor College of Medicine and Texas Children s Cancer Center, Houston, Texas
    Am J Med Genet A 161:2953-63. 2013
    ..3 appears important for normal embryonic and childhood development. The clinical description of patients with deletions in this genomic interval will assist clinicians to identify and treat individuals with similar deletions...
  14. pmc Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
    Michael F Wangler
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America Texas Children s Hospital, Houston, Texas, United States of America
    PLoS Genet 10:e1004258. 2014
    ..ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease. ..
  15. doi request reprint 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...
  16. pmc 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...