Now showing items 1-5 of 5
Dnmt3a DELETION COOPERATES WITH THE Flt3-ITD MUTATION TO DRIVE LEUKEMOGENESIS IN A MURINE MODEL
(Johns Hopkins University, 2016-03-31)
The advent of next generation sequencing has facilitated the establishment of an exhaustive catalog of recurrent mutations in Acute Myeloid Leukemia (AML). We know that FLT3 is the most commonly mutated gene in the disease, ...
Examining Comorbidity, Prenatal Risk Factors, and the Genetic Determinants of Cognitive Developmental Trajectories for Insights Into Autism Spectrum Disorder
(Johns Hopkins University, 2016-09-07)
Background: Autism spectrum disorder (ASD) is a heritable, heterogeneous neurodevelopmental disorder affecting social communication and motor stereotypies. Comorbid mental and physical conditions, perinatal risk factors, ...
THE MOLECULAR ETIOLOGY OF ATYPICAL CYSTIC FIBROSIS & PHENOTYPIC HETEROGENEITY IN CLASSIC CYSTIC FIBROSIS
(Johns Hopkins University, 2016-05-26)
This thesis highlights two studies which seek to link phenotypic presentations in cystic fibrosis (CF) and CF-like disease with underlying causative variation. Cystic fibrosis is a rare Mendelian disorder with a primary ...
WHAT COUNTS? THE ROLE OF NUMERACY IN INTERPRETATION OF PERSONALIZED GENOMIC RISK INFORMATION IN CORIELL PARTICIPANTS
(Johns Hopkins University, 2016-02-01)
Purpose To investigate how numeracy influences personalized genomic risk interpretation using objective risk estimates, affective risk ratings, and genetic self-efficacy. Methods A one-time, 2x2 between-subjects survey ...
Identification of Non-Traditional Molecular Contributors to Cystic Fibrosis
(Johns Hopkins University, 2016-06-14)
Next generation sequencing has enabled the identification of patients with unambiguous recessive Mendelian phenotypes and incomplete genotypes, meaning zero or only one disease-causing mutation are detected by diagnostic ...