2021
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.
Pediatric neurology
PubMed • Publisher's siteResearch at a glance
Top areas of exploration
- Prader-Willi Syndrome , 65 publications
- Chromosomes, Human, Pair 15 , 31 publications
- Angelman Syndrome , 27 publications
- Chromosome Deletion , 22 publications
Research activity
Focus
The overarching goal of Dr. Driscoll’s research is to blend meaningful discoveries at the laboratory bench and the patient’s bedside which ultimately will result in significant beneficial treatments for both children and adults. His research interests are focused in three interrelated areas that combine his clinical and basic science expertise; Genomic imprinting/Epigenetics; Prader-Willi syndrome; and early-onset major obesity (EMO).
Prader-Willi syndrome (PWS) is the most frequently diagnosed genetic cause of obesity and it is the result of a derangement in genomic imprinting. Our lab is using PWS as a model system to better understand both childhood obesity and the phenomenon of genomic imprinting.
My publications
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122 publications
2021
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.
Clinical genetics
PubMed • Publisher's site2021
Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome
Orphanet Journal of Rare Diseases
PubMed • Publisher's site2020
Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome
Genes
PubMed • Publisher's site2019
Birth seasonality studies in a large Prader-Willi syndrome cohort.
American journal of medical genetics. Part A
PubMed • Publisher's site