Matthew A Deardorff

Summary

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

Publications

  1. pmc Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders
    Matthew A Deardorff
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Pennsylvania, 19104
    Protein Sci 25:1965-1976. 2016
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. pmc 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
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications33

  1. pmc Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders
    Matthew A Deardorff
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Pennsylvania, 19104
    Protein Sci 25:1965-1976. 2016
    ..Intriguingly, catalytic activity in many HDAC8 mutants can be partially or fully restored by an N-acylthiourea activator, suggesting a plausible strategy for the chemical rescue of compromised HDAC8 catalysis in vivo...
  2. 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...
  3. 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
    ....
  4. 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...
  5. 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...
  6. 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...
  7. pmc 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...
  8. 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
    ....
  9. 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...
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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
    ....
  15. 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
    ....
  16. pmc 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...
  17. 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
    ....
  18. 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...
  19. pmc 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. ..
  20. pmc 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
    ....
  21. pmc Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
    Kosuke Izumi
    1 Division of Human Genetics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA 2 Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan
    Nat Genet 47:338-44. 2015
    ..These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin. ..
  22. doi Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing
    Elizabeth J Bhoj
    Division of Genomic Diagnostics and Department of Pathology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Genet Med . 2016
    ..Next-generation sequencing (NGS)-based panels have widespread acceptance as a diagnostic tool for RASopathies...
  23. pmc Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome
    Jennifer M Kalish
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
    J Med Genet 53:53-61. 2016
    ..Congenital hyperinsulinism (HI) can have monogenic or syndromic causes. Although HI has long been recognised to be common in children with Beckwith-Wiedemann syndrome (BWS), the underlying mechanism is not known...
  24. 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
    ....
  25. 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...
  26. pmc ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis
    Rebecca D Ganetzky
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA
    JIMD Rep 30:33-37. 2016
    ....
  27. doi Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit
    Rebecca C Ahrens-Nicklas
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Am J Med Genet A 170:3090-3097. 2016
    ..Careful consideration of lesion subtype and physical exam findings clarify populations of infants with CHD that benefit from a genetics evaluation and inform an efficient testing paradigm. © 2016 Wiley Periodicals, Inc...
  28. pmc Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death
    Mindy H Li
    Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
    Hum Genomics 9:15. 2015
    ..This study investigated the diagnostic utility of exome sequencing (ES) by evaluating the capture and coverage of genes related to SCA/D...
  29. doi Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?
    Jennifer M Kalish
    The Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Am J Med Genet A 170:2261-4. 2016
    ..2016 Wiley Periodicals, Inc. ..
  30. pmc Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia
    Dong Li
    1 Center for Applied Genomics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA 2 Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
    Eur J Hum Genet 23:264-6. 2015
    ..R109*) that is predicted to abolish MMP13 activity. This report extends the MANDP phenotype by illustrating that AR nonsense mutations in MMP13 can lead to short stature that persists beyond childhood. ..
  31. doi Melorheostosis: segmental osteopoikilosis or a separate entity?
    Muayad Kadhim
    Division of Orthopaedic Surgery Department of Genetics, The Children s Hospital of Philadelphia Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA
    J Pediatr Orthop 35:e13-7. 2015
    ..Melorheostosis has a significant degree of overlap with other hyperostosis conditions including osteopoikilosis and likely represent varying degrees of a clinical spectrum...
  32. 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...
  33. 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...