Melissa B Ramocki

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. pmc The MECP2 duplication syndrome
    Melissa B Ramocki
    Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
    Am J Med Genet A 152:1079-88. 2010
  2. pmc Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2
    Melissa B Ramocki
    Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:1574-80. 2011
  3. pmc Replicative mechanisms for CNV formation are error prone
    Claudia M B Carvalho
    1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA 2 Centro de Pesquisas René Rachou FIOCRUZ, Belo Horizonte, Brazil
    Nat Genet 45:1319-26. 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. pmc A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
    Neil A Hanchard
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    BMC Med Genet 13:71. 2012
  6. 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
  7. pmc Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
    Melissa B Ramocki
    Section of Child Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    Ann Neurol 66:771-82. 2009
  8. pmc Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 43:1074-81. 2011
  9. pmc Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria
    David R Murdock
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:2071-7. 2011
  10. pmc MECP2 duplications in six patients with complex sex chromosome rearrangements
    Amy M Breman
    Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:409-15. 2011

Collaborators

Detail Information

Publications14

  1. pmc The MECP2 duplication syndrome
    Melissa B Ramocki
    Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
    Am J Med Genet A 152:1079-88. 2010
    ..We discuss recommendations for clinical management and surveillance as well as the need for further clinical, genotype-phenotype, and molecular studies to assist the patients and their families who are affected by this syndrome...
  2. pmc Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2
    Melissa B Ramocki
    Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:1574-80. 2011
    ..In addition, an individual with a complex rearrangement of chromosome 22q13.3 and RES was identified, suggesting the presence of a dosage-sensitive gene that may contribute to RES in this region...
  3. pmc Replicative mechanisms for CNV formation are error prone
    Claudia M B Carvalho
    1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA 2 Centro de Pesquisas René Rachou FIOCRUZ, Belo Horizonte, Brazil
    Nat Genet 45:1319-26. 2013
    ..Our findings implicate low-fidelity, error-prone DNA polymerase activity in synthesis associated with DNA repair mechanisms as the cause of local increase in point mutation burden associated with human CGR...
  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. pmc A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
    Neil A Hanchard
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    BMC Med Genet 13:71. 2012
    ..Most carrier females show complete skewing of X-inactivation in peripheral blood and an apparent susceptibility to specific personality traits or neuropsychiatric symptoms...
  6. 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
    ....
  7. pmc Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
    Melissa B Ramocki
    Section of Child Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    Ann Neurol 66:771-82. 2009
    ..This study characterizes the clinical and neuropsychiatric phenotypes of affected boys and carrier females...
  8. pmc Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 43:1074-81. 2011
    ..We propose a mechanism that involves both homology-driven events, via inverted repeats, and microhomologous or nonhomologous events...
  9. pmc Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria
    David R Murdock
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:2071-7. 2011
    ..Further studies to identify mutation frequency in the population are needed...
  10. pmc MECP2 duplications in six patients with complex sex chromosome rearrangements
    Amy M Breman
    Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:409-15. 2011
    ....
  11. pmc TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly
    Ian M Campbell
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 155:1442-7. 2011
    ..Moreover, we propose that somatic mosaicism below the detection threshold of FISH analysis in asymptomatic parents of children with genomic disorders may be more common than previously recognized...
  12. pmc Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 18:2188-203. 2009
    ....
  13. pmc Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses
    Tianshu Yang
    Translational Biology and Molecular Medicine Program, Baylor College of Medicine, Houston, TX 77030, USA
    Sci Transl Med 4:163ra158. 2012
    ..Our findings establish a rational basis for identifying, treating, and preventing infectious complications potentially affecting children with MECP2 duplication...
  14. pmc Bilateral in utero cerebellar infarction
    Safdar A Ansari
    Department of Neurology, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas, USA
    J Child Neurol 26:895-9. 2011
    ..Such posterior fossa ischemic insults diagnosed in utero are rare with scarce clinical reports. The serial imaging characteristics, clinical, and developmental implications of this case are reviewed...