1. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

    New England Journal of Medicine 372(25):2409 (2015) PMID 26083206 PMCID PMC4480434

    Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells that are present are quantitatively or functionally deficient. Impaired humoral immunity is also common. Patients have severe infections, autoimmunity, or both. The specific molecular, cell...
  2. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

    JAMA 312(7):729 (2014) PMID 25138334 PMCID PMC4492158

    Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Colu...
  3. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

    JAMA 312(7):729 (2014) PMID 25138334

    Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Colu...
  4. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

    JAMA 312(7):729 (2014) PMID 25138334

    Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Colu...
  5. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

    JAMA 312(7):729 (2014) PMID 25138334

    Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Colu...
  6. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

    Journal of Allergy and Clinical Immunology 132(3):656 (2013) PMID 23830146 PMCID PMC3759618

    Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healt...
  7. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias

    Journal of Allergy and Clinical Immunology 132(3):656 (2013) PMID 23830146 PMCID PMC3759618

    Background Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects.
  8. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias

    Journal of Allergy and Clinical Immunology 132(3):656 (2013)

    Background Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects.
  9. First reported case of Omenn syndrome in a patient with reticular dysgenesis.

    Journal of Allergy and Clinical Immunology 131(4):1227 (2013) PMID 23014587 PMCID PMC3894621

  10. First reported case of Omenn syndrome in a patient with reticular dysgenesis.

    Journal of Allergy and Clinical Immunology 131(4):1227 (2013) PMID 23014587 PMCID PMC3894621

  11. A framework for key considerations regarding point-of-care screening of newborns.

    Genetics in Medicine 14(12):951 (2012) PMID 22899090 PMCID PMC4521507

    Newborn screening is performed under public health authority, with analysis carried out primarily by public health laboratories or other centralized laboratories. Increasingly, opportunities to improve infant health will arise from including screening tests that are completed at the birth center...
  12. A framework for key considerations regarding point-of-care screening of newborns.

    Genetics in Medicine 14(12):951 (2012) PMID 22899090

    Newborn screening is performed under public health authority, with analysis carried out primarily by public health laboratories or other centralized laboratories. Increasingly, opportunities to improve infant health will arise from including screening tests that are completed at the birth center...
  13. Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples

    Molecular Genetics and Metabolism 107(3):586 (2012)

    T‐cell receptor excision circles (TRECs) are circular DNA molecules formed during rearrangement of the T‐cell receptor (TCR) genes during lymphocyte development. Copy number of the junctional portion of the δRec-ψJα TREC, assessed by quantitative PCR (qPCR) using DNA from dried blood s...
  14. Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.

    Molecular Genetics and Metabolism 107(3):586 (2012) PMID 23062576 PMCID PMC3483425

    T-cell receptor excision circles (TRECs) are circular DNA molecules formed during rearrangement of the T-cell receptor (TCR) genes during lymphocyte development. Copy number of the junctional portion of the δRec-ψJα TREC, assessed by quantitative PCR (qPCR) using DNA from dried blood spots (DBS)...
  15. Weighing the evidence for newborn screening for Hemoglobin H disease.

    The Journal of Pediatrics 158(5):780 (2011) PMID 21167500

    To conduct a systematic review to assist the United States Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) to determine whether Hemoglobin H screening should be included among the core recommended conditions for newborn screenin...
  16. Weighing the evidence for newborn screening for Hemoglobin H disease.

    The Journal of Pediatrics 158(5):780 (2011) PMID 21167500

    To conduct a systematic review to assist the United States Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) to determine whether Hemoglobin H screening should be included among the core recommended conditions for newborn screenin...
  17. Weighing the Evidence for Newborn Screening for Hemoglobin H Disease

    The Journal of Pediatrics 158(5):780 (2011) PMID 21167500

    Objective To conduct a systematic review to assist the United States Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) to determine whether Hemoglobin H screening should be included among the core recommended conditions ...
  18. Weighing the Evidence for Newborn Screening for Hemoglobin H Disease

    The Journal of Pediatrics 158(5):780 (2011)

    Objective To conduct a systematic review to assist the United States Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) to determine whether Hemoglobin H screening should be included among the core recommended conditions ...
  19. Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England.

    Genetics in Medicine 12(12 Suppl):S220 (2010) PMID 21150368

    To fulfill the purpose of newborn screening, comprehensive newborn screening programs must ensure that infants and children with newborn screening conditions are not only diagnosed but also they maintain engagement in appropriate lifespan and family-centered care for best outcomes. To ensure suc...
  20. Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England.

    Genetics in Medicine 12(12 Suppl):S220 (2010) PMID 21150368

    To fulfill the purpose of newborn screening, comprehensive newborn screening programs must ensure that infants and children with newborn screening conditions are not only diagnosed but also they maintain engagement in appropriate lifespan and family-centered care for best outcomes. To ensure suc...