Matthew A Deardorff

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. pmc RAD21 mutations cause a human cohesinopathy
    Matthew A Deardorff
    Division of Genetics, The Children s Hospital of Philadelphia, PA 19104, USA
    Am J Hum Genet 90:1014-27. 2012
  2. pmc HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
    Matthew A Deardorff
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Nature 489:313-7. 2012
  3. pmc Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion
    Matthew A Deardorff
    Division of Human Genetics, The Children s Hospital of Philadelphia Research Institute, Philadelphia, PA, USA
    BMC Med 9:13. 2011
  4. pmc Transcriptional dysregulation in NIPBL and cohesin mutant human cells
    Jinglan Liu
    Division of Human Genetics, Abramson Research Institute, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
    PLoS Biol 7:e1000119. 2009
  5. pmc Genome-wide DNA methylation analysis in cohesin mutant human cell lines
    Jinglan Liu
    Division of Human Genetics, Abramson Research Institute, Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Nucleic Acids Res 38:5657-71. 2010
  6. ncbi Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
    Jennifer M Kalish
    the Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Am J Med Genet A 161:1929-39. 2013
  7. pmc SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome
    Jinglan Liu
    Division of Human and Molecular Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    Hum Mutat 30:1535-42. 2009
  8. pmc PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders
    Ellen A Tsai
    Genomics and Computational Biology Graduate Group, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 161:2134-47. 2013
  9. doi Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome
    Laura K Conlin
    Department of Pathology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19146, USA
    Am J Med Genet A 158:3046-53. 2012
  10. pmc The incidence of thrombocytopenia in children with Cornelia de Lange syndrome
    Michele P Lambert
    Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA
    Am J Med Genet A 155:33-7. 2011

Research Grants

  1. The Cohesin Complex and Cornelia de Lange Syndrome
    MATTHEW DEARDORFF; Fiscal Year: 2007

Collaborators

Detail Information

Publications23

  1. pmc RAD21 mutations cause a human cohesinopathy
    Matthew A Deardorff
    Division of Genetics, The Children s Hospital of Philadelphia, PA 19104, USA
    Am J Hum Genet 90:1014-27. 2012
    ..These results underscore the essential role of RAD21 in eukaryotes and emphasize the need for further understanding of the role of cohesin in human development...
  2. pmc HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
    Matthew A Deardorff
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Nature 489:313-7. 2012
    ....
  3. pmc Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion
    Matthew A Deardorff
    Division of Human Genetics, The Children s Hospital of Philadelphia Research Institute, Philadelphia, PA, USA
    BMC Med 9:13. 2011
    ..Here, we describe how Ross's recent efforts to detect such occurrences could impact the field going forward...
  4. pmc Transcriptional dysregulation in NIPBL and cohesin mutant human cells
    Jinglan Liu
    Division of Human Genetics, Abramson Research Institute, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
    PLoS Biol 7:e1000119. 2009
    ..However, the binding sites are enriched within the promoter regions of the dysregulated genes and are significantly decreased in CdLS proband, indicating an alternative role of cohesin as a transcription factor...
  5. pmc Genome-wide DNA methylation analysis in cohesin mutant human cell lines
    Jinglan Liu
    Division of Human Genetics, Abramson Research Institute, Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Nucleic Acids Res 38:5657-71. 2010
    ..Our results suggest that in addition to DNA methylation multiple mechanisms may be involved in transcriptional regulation in human cells and in the resultant gene misexpression in CdLS...
  6. ncbi Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
    Jennifer M Kalish
    the Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Am J Med Genet A 161:1929-39. 2013
    ..Because of a later age of onset of additional tumors, continued tumor surveillance into adolescence may need to be considered in these rare patients...
  7. pmc SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome
    Jinglan Liu
    Division of Human and Molecular Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    Hum Mutat 30:1535-42. 2009
    ....
  8. pmc PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders
    Ellen A Tsai
    Genomics and Computational Biology Graduate Group, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 161:2134-47. 2013
    ..It successfully identified a likely etiology in 6 of 355 individuals (2%). We believe this tool is useful for researchers with large genetically heterogeneous cohorts to help identify known pathogenic causes and novel disease genes...
  9. doi Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome
    Laura K Conlin
    Department of Pathology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19146, USA
    Am J Med Genet A 158:3046-53. 2012
    ..These highlight the power of SNP arrays in detecting and characterizing the isochromosome 12p in Pallister-Killian syndrome as well as underscoring the important utility of traditional cytogenetic techniques...
  10. pmc The incidence of thrombocytopenia in children with Cornelia de Lange syndrome
    Michele P Lambert
    Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA
    Am J Med Genet A 155:33-7. 2011
    ..Although further studies are needed to better define the scope of the problem and to define the mechanisms of thrombocytopenia in CdLS, we would recommend screening for thrombocytopenia upon diagnosis and at 5-year intervals thereafter...
  11. pmc Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis
    Kathryn C Chatfield
    Department of Pediatrics, Section of Pediatric Cardiology, The Children s Hospital of Colorado, Denver, USA
    Am J Med Genet A 158:2499-505. 2012
    ..Structural CHDs were more likely to be present in individuals with moderate and severe CdLS than in the mild phenotype. This study evaluates the trends of CHD seen in the CdLS population and correlates these findings with genotype...
  12. pmc Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations
    Emily Gallant
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 161:2148-57. 2013
    ..We report a presumed haplotype block specific to East Asian individuals with the V37I mutation encompassing the GJB2 gene that may account for the high prevalence in East Asian populations...
  13. doi Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array
    Kosuke Izumi
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Am J Med Genet A 161:166-71. 2013
    ....
  14. pmc Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies
    Dinah M Clark
    Division of Genetics, The Children s Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104 4318, USA
    Am J Med Genet A 158:1848-56. 2012
    ....
  15. doi Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey
    Sarika Rohatgi
    Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 152:1641-53. 2010
    ..This work underscores the difficulty in diagnosing patients with mild and variant CdLS and serves to objectively classify both useful and misleading features in the diagnosis of CdLS...
  16. pmc Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature
    Samantha A Schrier
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    Am J Med Genet A 155:3007-24. 2011
    ....
  17. ncbi The value of the metabolic autopsy in the pediatric hospital setting
    Linda M Ernst
    Department of Pathology, Metabolic Disease Laboratory, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    J Pediatr 148:779-83. 2006
    ..To determine the utility of the metabolic autopsy in the hospitalized pediatric patient...
  18. doi Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum
    Qiaoli Li
    Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 134:658-65. 2014
    ..In addition, our study emphasizes the potential utility of shared homozygosity mapping to identify genetic causes of inherited disorders. ..
  19. ncbi Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy
    Jennifer M Kalish
    Division of Genetics, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Am J Med Genet A 161:993-1001. 2013
    ....
  20. pmc Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
    Matthew A Deardorff
    Division of Human and Molecular Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    Am J Hum Genet 80:485-94. 2007
    ....
  21. pmc Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome
    Mariko Nakanishi
    Division of Child Development, Rehabilitation, and Metabolic Disease, The Children s Hospital of Philadelphia, and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 158:1841-7. 2012
    ..Clinicians who take care of individuals with CdLS should have a high index of suspicion for autistic features, and refer for further evaluation when these features are present in order to expedite appropriate intervention...
  22. pmc Improving surveillance for hyperammonemia in the newborn
    Samantha A Vergano
    Section of Biochemical Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Mol Genet Metab 110:102-5. 2013
    ..Because these patients are rare and recognition of hyperammonemia is often delayed, we designed and implemented an electronic medical record (EMR)-based tool to assist physicians in the detection of hyperammonemia...
  23. pmc Neutral mitochondrial heteroplasmy and the influence of aging
    Neal Sondheimer
    Department of Pediatrics, The University of Pennsylvania, Philadelphia, PA, USA
    Hum Mol Genet 20:1653-9. 2011
    ..These data suggest that both mutation and selective pressure affect blood mitochondrial DNA sequence over the course of the human lifespan and reveal the unexpectedly dynamic nature of human heteroplasmy...

Research Grants2

  1. The Cohesin Complex and Cornelia de Lange Syndrome
    MATTHEW DEARDORFF; Fiscal Year: 2007
    ..He will take advantage of the ample resources of his environment, both at The Children's Hospital of Philadelphia and at the University of Pennsylvania. ..