Richard J Schroer

Summary

Affiliation: Greenwood Genetic Center
Country: USA

Publications

  1. pmc Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
    Patrícia Bs Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Cytogenet 5:17. 2012
  2. pmc Natural history of Christianson syndrome
    Richard J Schroer
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:2775-83. 2010
  3. ncbi request reprint Genetic syndromes among individuals with mental retardation
    Roger E Stevenson
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 123:29-32. 2003
  4. pmc Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
    Luigi Boccuto
    Greenwood Genetic Center, Greenwood, SC, USA
    Eur J Hum Genet 21:310-6. 2013
  5. pmc Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome
    Richard J Schroer
    Greenwood Genetic Center, South Carolina 29646, USA
    Am J Med Genet A 158:2602-5. 2012
  6. ncbi request reprint The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project
    Julianne S Collins
    J C Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    J Autism Dev Disord 33:343-8. 2003
  7. doi request reprint Clinical utility of the X-chromosome array
    Yuri A Zarate
    Greenwood Genetic Center, Greenwood, SC, USA
    Am J Med Genet A 161:120-30. 2013
  8. doi request reprint Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency
    Laura M Pollard
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    J Child Neurol 25:954-60. 2010
  9. pmc Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability
    Kavita Bhalla
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Am J Hum Genet 83:703-13. 2008
  10. ncbi request reprint Absence of MeCP2 mutations in patients from the South Carolina autism project
    Fe Lobo-Menendez
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet B Neuropsychiatr Genet 117:97-101. 2003

Collaborators

Detail Information

Publications11

  1. pmc Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
    Patrícia Bs Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Cytogenet 5:17. 2012
    ..The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay...
  2. pmc Natural history of Christianson syndrome
    Richard J Schroer
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:2775-83. 2010
    ..Here we report on nonsense mutations in two additional families. The natural history is detailed in childhood and adult life, the similarities to Angelman syndrome confirmed, and the MRI/MRS findings documented in three affected boys...
  3. ncbi request reprint Genetic syndromes among individuals with mental retardation
    Roger E Stevenson
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 123:29-32. 2003
    ..The coexistence of structural and mental abnormalities also suggests that both originated in the embryonic period of development...
  4. pmc Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
    Luigi Boccuto
    Greenwood Genetic Center, Greenwood, SC, USA
    Eur J Hum Genet 21:310-6. 2013
    ..This represents the first evidence of a genotype-phenotype correlation in ASDs and highlights the importance of a detailed clinical-neuropsychiatric evaluation for the effective genetic screening of ASD patients...
  5. pmc Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome
    Richard J Schroer
    Greenwood Genetic Center, South Carolina 29646, USA
    Am J Med Genet A 158:2602-5. 2012
    ..Activity of the enzyme gene product in fibroblasts was elevated to over twice the level in control fibroblasts. The boy had no somatic or neurological findings reminiscent of Lowe syndrome...
  6. ncbi request reprint The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project
    Julianne S Collins
    J C Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    J Autism Dev Disord 33:343-8. 2003
    ....
  7. doi request reprint Clinical utility of the X-chromosome array
    Yuri A Zarate
    Greenwood Genetic Center, Greenwood, SC, USA
    Am J Med Genet A 161:120-30. 2013
    ..When the X-chromosome array was used to confirm a suspected X-linked condition, it had a yield of 63% (12/19) and was useful in the evaluation and risk assessment of patients and families...
  8. doi request reprint Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency
    Laura M Pollard
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    J Child Neurol 25:954-60. 2010
    ..However, they emphasize the need for timely diagnosis to urgently implement prophylactic treatment for life-threatening metabolic crises with low protein/fat diets supplemented with riboflavin and carnitine...
  9. pmc Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability
    Kavita Bhalla
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Am J Hum Genet 83:703-13. 2008
    ..Taken together, our data suggest that alterations in CDH15 and KIRREL3, either alone or in combination with other factors, could play a role in phenotypic expression of ID in some patients...
  10. ncbi request reprint Absence of MeCP2 mutations in patients from the South Carolina autism project
    Fe Lobo-Menendez
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet B Neuropsychiatr Genet 117:97-101. 2003
    ..The findings from this and other studies suggest that mutations in the coding sequence of the MeCP2 gene are not a significant etiological factor in autism...
  11. pmc X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
    Kimberly A Hahn
    Greenwood Genetic Center, Greenwood, SC 29646, USA
    Am J Hum Genet 70:1349-56. 2002
    ..The ability to measure elevated creatine in urine makes it possible to diagnose SLC6A8 deficiency in male patients with mental retardation of unknown etiology...