Andrew Dauber

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder
    Andrew Dauber
    Division of Endocrinology, Children s Hospital Boston, Boston, MA, 02115, USA
    J Pediatr 162:202-4.e1. 2013
  2. ncbi Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein
    Andrew Dauber
    Children s Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 97:E2140-51. 2012
  3. ncbi Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia
    Andrew Dauber
    Division of Endocrinology, Children s Hospital Boston, Clinical Investigator Training Program, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 97:E268-74. 2012
  4. ncbi Procalcitonin levels in febrile infants after recent immunization
    Andrew Dauber
    Divisions of Endocrinology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatrics 122:e1119-22. 2008
  5. ncbi Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome
    Andrew Dauber
    Division of Endocrinology, CLS 16, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
    Pediatrics 126:e1594-8. 2010
  6. ncbi Procalcitonin in young febrile infants for the detection of serious bacterial infections
    Vincenzo Maniaci
    Division of Emergency Medicine, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Pediatrics 122:701-10. 2008
  7. ncbi Closed-loop insulin therapy improves glycemic control in children aged <7 years: a randomized controlled trial
    Andrew Dauber
    Division of Endocrinology, Boston Children s Hospital, Boston, MA, USA
    Diabetes Care 36:222-7. 2013
  8. ncbi Monitoring of therapy in congenital adrenal hyperplasia
    Andrew Dauber
    Division of Endocrinology, Children s Hospital Boston, Boston, MA, USA
    Clin Chem 56:1245-51. 2010
  9. ncbi Genome-wide association studies in pediatric endocrinology
    Andrew Dauber
    Division of Endocrinology, Children s Hospital Boston, Boston, MA 02115, USA
    Horm Res Paediatr 75:322-8. 2011

Detail Information

Publications9

  1. ncbi Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder
    Andrew Dauber
    Division of Endocrinology, Children s Hospital Boston, Boston, MA, 02115, USA
    J Pediatr 162:202-4.e1. 2013
    ..Whole exome sequencing demonstrated a novel homozygous frameshift mutation in CUL7, one of the causative genes of 3-M syndrome. We discuss the utility of exome sequencing in diagnosing rare disorders...
  2. ncbi Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein
    Andrew Dauber
    Children s Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 97:E2140-51. 2012
    ..Single causative gene defects have been identified in a number of patients with MPD, and all involve genes fundamental to cellular processes including centrosome functions...
  3. ncbi Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia
    Andrew Dauber
    Division of Endocrinology, Children s Hospital Boston, Clinical Investigator Training Program, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 97:E268-74. 2012
    ..Idiopathic infantile hypercalcemia (IIH) is a disorder the genetic etiology and physiological basis of which are not well understood...
  4. ncbi Procalcitonin levels in febrile infants after recent immunization
    Andrew Dauber
    Divisions of Endocrinology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatrics 122:e1119-22. 2008
    ..Many infants present with a febrile reaction after receiving immunizations. The effects of immunization on procalcitonin have not been investigated...
  5. ncbi Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome
    Andrew Dauber
    Division of Endocrinology, CLS 16, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
    Pediatrics 126:e1594-8. 2010
    ..Finally, we illustrate that Bayes' theorem is a useful statistical tool for interpreting novel missense mutations of unknown significance...
  6. ncbi Procalcitonin in young febrile infants for the detection of serious bacterial infections
    Vincenzo Maniaci
    Division of Emergency Medicine, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Pediatrics 122:701-10. 2008
    ....
  7. ncbi Closed-loop insulin therapy improves glycemic control in children aged <7 years: a randomized controlled trial
    Andrew Dauber
    Division of Endocrinology, Boston Children s Hospital, Boston, MA, USA
    Diabetes Care 36:222-7. 2013
    ..To assess the possibility of improving nocturnal glycemic control as well as meal glycemic response using closed-loop therapy in children aged <7 years...
  8. ncbi Monitoring of therapy in congenital adrenal hyperplasia
    Andrew Dauber
    Division of Endocrinology, Children s Hospital Boston, Boston, MA, USA
    Clin Chem 56:1245-51. 2010
    ..Therapy is guided by monitoring clinical parameters as well as adrenal hormone and metabolite concentrations...
  9. ncbi Genome-wide association studies in pediatric endocrinology
    Andrew Dauber
    Division of Endocrinology, Children s Hospital Boston, Boston, MA 02115, USA
    Horm Res Paediatr 75:322-8. 2011
    ..We then discuss the present and future implications of these findings with regards to disease prediction, uncovering basic biology, and the development of novel therapeutic agents...