Affiliation: Harvard University
- Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short statureSophie R Wang
Division of Endocrinology, Boston Children s Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115 E mail
J Clin Endocrinol Metab 98:E1428-37. 2013..Conclusions: Large-scale sequencing efforts have the potential to rapidly identify genetic etiologies of short stature, but data interpretation is complex. Noonan syndrome may be an underdiagnosed cause of short stature. ..
- Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorderAndrew 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...
- Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein nineinAndrew 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...
- Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemiaAndrew 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...
- Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndromeAndrew 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...
- Procalcitonin levels in febrile infants after recent immunizationAndrew 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...
- Procalcitonin in young febrile infants for the detection of serious bacterial infectionsVincenzo Maniaci
Division of Emergency Medicine, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
Pediatrics 122:701-10. 2008....
- Central precocious puberty caused by mutations in the imprinted gene MKRN3Ana 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...
- Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencingAri 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...
- Closed-loop insulin therapy improves glycemic control in children aged <7 years: a randomized controlled trialAndrew 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...
- Genome-wide association studies in pediatric endocrinologyAndrew 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...
- Monitoring of therapy in congenital adrenal hyperplasiaAndrew 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...