Andrew Dauber

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc 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. pmc 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. pmc 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. doi 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. doi 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. doi 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. pmc A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency
    Lara Batey
    Division of Endocrinology L B, J E M, J N H, A D, Boston Children s Hospital, Boston, Massachusetts 02115 Shanghai Children s Medical Center Y Y, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China Pediatrics Institute B W, Key Laboratory of Neonatal Diseases, Ministry of Health, Children s Hospital of Fudan University, Shanghai 201102, PR China Program in Medical and Population Genetics J N H, Broad Institute, Cambridge, Massachusetts 02142 Department of Genetics J N H, Harvard Medical School, Boston, Massachusetts 02115 Department of Pathology Y S, Harvard Medical School, and Department of Laboratory Medicine, Boston Children s Hospital, Boston, Massachusetts 02115 and Shanghai Children s Medical Center Y S, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
    J Clin Endocrinol Metab 99:E153-9. 2014
  8. pmc Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature
    Sophie R Wang
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 98:E1428-37. 2013
  9. pmc Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencing
    Ari J Wassner
    Division of Endocrinology, Boston Children s Hospital, Boston, MA 02115, USA
    Horm Res Paediatr 79:379-86. 2013
  10. pmc SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant
    Andrew Dauber
    Division of Endocrinology, Boston Children s Hospital, Boston, MA 02115, USA Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02115, USA
    Am J Hum Genet 93:798-811. 2013

Collaborators

Detail Information

Publications14

  1. pmc 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. pmc 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. pmc 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. doi 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. doi 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. doi 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. pmc A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency
    Lara Batey
    Division of Endocrinology L B, J E M, J N H, A D, Boston Children s Hospital, Boston, Massachusetts 02115 Shanghai Children s Medical Center Y Y, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China Pediatrics Institute B W, Key Laboratory of Neonatal Diseases, Ministry of Health, Children s Hospital of Fudan University, Shanghai 201102, PR China Program in Medical and Population Genetics J N H, Broad Institute, Cambridge, Massachusetts 02142 Department of Genetics J N H, Harvard Medical School, Boston, Massachusetts 02115 Department of Pathology Y S, Harvard Medical School, and Department of Laboratory Medicine, Boston Children s Hospital, Boston, Massachusetts 02115 and Shanghai Children s Medical Center Y S, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
    J Clin Endocrinol Metab 99:E153-9. 2014
    ..Frequently, the underlying etiology of short stature is unknown, resulting in a diagnosis of idiopathic short stature. Rare genetic defects in the GH/IGF-1 axis have been found to cause short stature...
  8. pmc Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature
    Sophie R Wang
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 98:E1428-37. 2013
    ..The majority of patients presenting with short stature do not receive a definitive diagnosis. Advances in genetic sequencing allow for large-scale screening of candidate genes, potentially leading to genetic diagnoses...
  9. pmc Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencing
    Ari J Wassner
    Division of Endocrinology, Boston Children s Hospital, Boston, MA 02115, USA
    Horm Res Paediatr 79:379-86. 2013
    ..In a young child presenting with CH, it is important to determine whether additional pituitary hormone deficiencies are present, but this may be difficult to establish clinically...
  10. pmc SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant
    Andrew Dauber
    Division of Endocrinology, Boston Children s Hospital, Boston, MA 02115, USA Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02115, USA
    Am J Hum Genet 93:798-811. 2013
    ....
  11. pmc Central precocious puberty caused by mutations in the imprinted gene MKRN3
    Ana Paula Abreu
    Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women s Hospital and Harvard Medical School, Boston, USA
    N Engl J Med 368:2467-75. 2013
    ..The timing of pubertal development is driven in part by genetic factors, but only a few, rare molecular defects associated with central precocious puberty have been identified...
  12. pmc 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...
  13. doi 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...
  14. 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...