Daniel J Driscoll

Daniel J Driscoll, MD, PhD

The John T. and Winifred M. Hayward Professor of Genetics Research, University of Florida College of Medicine

Department: Pediatric Genetics and Metabolism
Business Phone: (352) 294-5050
Business Email: driscdj@peds.ufl.edu

About Daniel J Driscoll

Dr. Driscoll is a tenured Professor in the Division of Genetics and Metabolism (Department of Pediatrics) and the John T. and Winifred M. Hayward Professor of Genetics Research at the University of Florida College of Medicine. He became faculty at the University of Florida College of Medicine in 1989 after finishing his Medical Genetics fellowship at the Johns Hopkins Hospital in Baltimore, Maryland.

He received his B.A. (with Honors in Biology) from Colgate University; M.S. in Genetic Counseling from Rutgers University; M.D. from Albany Medical College; Ph.D. in Medical Genetics from Indiana University School of Medicine; and did his Pediatric residency and Medical Genetics fellowship at the Johns Hopkins Hospital. He has received board certifications from the American Board of Pediatrics and the American College of Medical Genetics and Genomics (subspecialties in Clinical Genetics, Clinical Cytogenetics, and Clinical Molecular Genetics).

He has been conducting clinical and laboratory research on Prader-Willi syndrome since the late 1980’s. He has been a major contributor to the understanding of the genetics of Prader-Willi syndrome (PWS) and genomic imprinting in the PWS region, as well as to the elucidation of the natural history of PWS. His group developed the technique (DNA methylation analysis) that is now widely used to diagnose PWS and also elucidated the “Nutritional Phases of PWS” that has gained wide acceptance by experts around the world.

Dr. Driscoll has been passionate at improving the lives of those with Prader-Willi syndrome and childhood obesity. He has been a major spokesperson on PWS in the US and internationally. He was the principal investigator for the PWS component of an NIH funded 12 year national Rare Disease Center grant on the “Natural History of PWS”. He is currently Chair of the Clinical and Scientific Advisory Board for the International Prader-Willi Syndrome Organization (IPWSO) which represents over 100 countries around the world. Previously, he was Chair of the Clinical Advisory Board for the national Prader-Willi Syndrome Association (PWSA-USA) for 23 years and was a member of the Board of Directors for 21 years

He has have received multiple awards and honors during his career including a Basil O’Connor Starter Scholar Research Award from the March of Dimes, University of Florida Research Foundation Professorship Award, a Doctoral Dissertation Adviser Mentoring Award at the University of Florida, and he was the first faculty member at the University of Florida to be awarded an NIH K24 Midcareer Patient-Oriented Investigator Award.

He has had continuous extramural research funding for over 30 years from a number of sources including the NIH, Department of Defense, March of Dimes, PWSA-USA, Foundation for Prader-Willi Research, and the Hayward and Schiller Foundations. This has led his lab to make several seminal contributions to the fields of Prader-Willi syndrome, Angelman syndrome, genomic imprinting, and early childhood obesity. Due to these contributions, he was elected into the Society of Scholars at the Johns Hopkins University which “honors individuals who completed training at Hopkins and who have achieved marked professional or scholarly distinction in their fields”.

Additional Positions:
The John T. and Winifred M. Hayward Professor of Genetics Research
2000 – Current · University of Florida College of Medicine

Accomplishments

Chair, Clinical and Scientific Advisory Board
2016-Current · International Prader-Willi Syndrome Organization
Member
2006-Current · American Pediatric Society
Member, Society of Scholars
2006-Current · The Johns Hopkins University
University of Florida Research Foundation Professorship Award
2006-2008 · University of Florida
Doctoral Dissertation Adviser Mentoring Award
2006 · University of Florida
President, Faculty Council
2004-2005 · University of Florida College of Medicine
The John T. and Winifred M. Hayward Professorship in Genetics Research
2000-Current · University of Florida
Top Doctor
2000-Current · Castle Connolly Top Doctors
NIH K24 Midcareer Patient-Oriented Investigator Award
2000-2006 · NIH
Chair, Clinical Advisory Board
1999-2022 · Prader-Willi Syndrome Association | USA
Member Board of Directors
1998-2021 · Prader-Willi Syndrome Association | USA
Basil O'Connor Starter Scholar Research Award
1992-1994 · March of Dimes

Board Certifications

  • Clinical Cytogenetics
    American Board of Medical Genetics & Genomics
  • Clinical Genetics
    American Board of Medical Genetics & Genomics
  • Pediatrics
    American Board of Pediatrics

Clinical Profile

Specialties
  • Pediatrics
Subspecialties
  • Clinical Cytogenetics
  • Clinical Genetics and Genomics
Areas of Interest
  • Angelman syndrome
  • Genetics
  • Obesity
  • Prader-Willi syndrome

Research Profile

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.

Areas of Interest
  • Epigenetics
  • Interventions for Childhood Obesity
  • Molecular genetics
Open Researcher and Contributor ID (ORCID)

0000-0002-9612-773X

Publications

2023
Hyperinsulinemia is a probable trigger for weight gain and hyperphagia in individuals with Prader‐Willi syndrome
Obesity Science & Practice. 9(4):383-394 [DOI] 10.1002/osp4.663. [PMID] 37546289.
2023
Prader-Willi Syndrome
GeneReviews.
2022
Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders.
Obesity (Silver Spring, Md.). 30(5):973-981 [DOI] 10.1002/oby.23385. [PMID] 35416416.
2022
Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader–Willi Syndrome
Journal of Clinical Medicine. 11(9) [DOI] 10.3390/jcm11092572. [PMID] 35566699.
2022
The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey.
Orphanet journal of rare diseases. 17(1) [DOI] 10.1186/s13023-022-02228-6. [PMID] 35189933.
2021
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.
Pediatric neurology. 123:30-37 [DOI] 10.1016/j.pediatrneurol.2021.07.009. [PMID] 34388423.
2021
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.
Clinical genetics. 100(1):29-39 [DOI] 10.1111/cge.13947. [PMID] 33615449.
2021
Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome
Orphanet Journal of Rare Diseases. 16(1) [DOI] 10.1186/s13023-020-01651-x. [PMID] 33557878.
2020
Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome
Genes. 11(11) [DOI] 10.3390/genes11111250. [PMID] 33114160.
2019
Birth seasonality studies in a large Prader-Willi syndrome cohort.
American journal of medical genetics. Part A. 179(8):1531-1534 [DOI] 10.1002/ajmg.a.61263. [PMID] 31225937.
2019
Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities.
Genes. 10(11) [DOI] 10.3390/genes10110898. [PMID] 31698873.
2019
Letter regarding “Prevalence of growth hormone deficiency in previously GH-treated young adults with Prader-Willi syndrome” by Donze et al.
Clinical endocrinology. 91(4):578-579 [DOI] 10.1111/cen.14047. [PMID] 31215054.
2019
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.
Journal of medical genetics. 56(3):149-153 [DOI] 10.1136/jmedgenet-2018-105301. [PMID] 29730598.
2018
Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome.
Journal of medical genetics. 55(9):594-598 [DOI] 10.1136/jmedgenet-2017-105118. [PMID] 29776967.
2018
Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.
American journal of medical genetics. Part A. 176(2):368-375 [DOI] 10.1002/ajmg.a.38582. [PMID] 29271568.
2017
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome.
The Journal of clinical investigation. 127(1):293-305 [DOI] 10.1172/JCI88648. [PMID] 27941249.
2017
Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study.
American journal of medical genetics. Part A. 173(5):1243-1250 [DOI] 10.1002/ajmg.a.38160. [PMID] 28371242.
2016
Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings.
American journal of medical genetics. Part A. 170(3):594-601 [DOI] 10.1002/ajmg.a.37488. [PMID] 26615966.
2016
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
American journal of medical genetics. Part A. 170A(4):967-77 [DOI] 10.1002/ajmg.a.37519. [PMID] 26692240.
2016
Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment.
Clinical pediatrics. 55(10):957-74 [DOI] 10.1177/0009922815617973. [PMID] 26842920.
2016
Higher plasma orexin A levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls.
American journal of medical genetics. Part A. 170(8):2097-102 [DOI] 10.1002/ajmg.a.37749. [PMID] 27214028.
2016
Higher plasma orexin a levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls.
American journal of medical genetics. Part A. 170(9):2328-33 [DOI] 10.1002/ajmg.a.37777. [PMID] 27518917.
2016
Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS.
Stem cell research. 17(3):526-530 [DOI] 10.1016/j.scr.2016.08.008. [PMID] 27789403.
2015
Clinical utility gene card for: Angelman Syndrome.
European journal of human genetics : EJHG. 23(2) [DOI] 10.1038/ejhg.2014.93. [PMID] 24896151.
2015
EVALUATION OF PLASMA SUBSTANCE P AND BETA-ENDORPHIN LEVELS IN CHILDREN WITH PRADER-WILLI SYNDROME.
The Journal of rare disorders. 3(2) [PMID] 27570781.
2015
Growth charts for non-growth hormone treated Prader-Willi syndrome.
Pediatrics. 135(1):e126-35 [DOI] 10.1542/peds.2014-1711. [PMID] 25489013.
2015
High plasma neurotensin levels in children with Prader-Willi syndrome.
American journal of medical genetics. Part A. 167A(8):1773-8 [DOI] 10.1002/ajmg.a.37103. [PMID] 25847417.
2015
Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia.
American journal of medical genetics. Part A. 167A(1):69-79 [DOI] 10.1002/ajmg.a.36810. [PMID] 25355237.
2015
Increased plasma chemokine levels in children with Prader-Willi syndrome.
American journal of medical genetics. Part A. 167A(3):563-71 [DOI] 10.1002/ajmg.a.36908. [PMID] 25691409.
2015
Laparoscopic sleeve gastrectomy in 108 obese children and adolescents ages 5 to 21 years by Alqahtani AR, Antonisamy B, Alamri H, Elahmedi M, Zimmerman VA.
Annals of surgery. 261(4) [DOI] 10.1097/SLA.0b013e3182a7187c. [PMID] 24045441.
2014
Clinical utility gene card for: Prader-Willi Syndrome.
European journal of human genetics : EJHG. 22(9) [DOI] 10.1038/ejhg.2014.66. [PMID] 24736734.
2014
Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology.
Genetics in medicine : official journal of the American College of Medical Genetics. 16(2):164-9 [DOI] 10.1038/gim.2013.97. [PMID] 23928912.
2014
Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia.
Obesity (Silver Spring, Md.). 22 Suppl 1(0 1):S1-S17 [DOI] 10.1002/oby.20646. [PMID] 24574081.
2013
A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome.
Journal of human nutrition and dietetics : the official journal of the British Dietetic Association. 26(1):2-9 [DOI] 10.1111/j.1365-277X.2012.01275.x. [PMID] 23078343.
2013
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
The Journal of clinical investigation. 123(7):3037-41 [DOI] 10.1172/JCI68035. [PMID] 23778136.
2013
Molecular characterization of a patient presumed to have prader-willi syndrome.
Clinical medicine insights. Case reports. 6:79-86 [DOI] 10.4137/CCRep.S11510. [PMID] 23700380.
2012
Letter to the editor: Long-term experience with duodenal switch in adolescents.
Obesity surgery. 22(3):517-8 [DOI] 10.1007/s11695-011-0502-2. [PMID] 21874367.
2012
Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.
Genetic testing and molecular biomarkers. 16(3):178-86 [DOI] 10.1089/gtmb.2011.0115. [PMID] 21977908.
2012
Prader-Willi syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics. 14(1):10-26 [DOI] 10.1038/gim.0b013e31822bead0. [PMID] 22237428.
2012
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
European journal of human genetics : EJHG. 20(3):283-90 [DOI] 10.1038/ejhg.2011.187. [PMID] 22045295.
2011
Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome.
American journal of medical genetics. Part A. 155A(3):569-73 [DOI] 10.1002/ajmg.a.33887. [PMID] 21337696.
2011
Growth standards of infants with Prader-Willi syndrome.
Pediatrics. 127(4):687-95 [DOI] 10.1542/peds.2010-2736. [PMID] 21402637.
2011
Nutritional phases in Prader-Willi syndrome.
American journal of medical genetics. Part A. 155A(5):1040-9 [DOI] 10.1002/ajmg.a.33951. [PMID] 21465655.
2011
Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome.
Journal of neurodevelopmental disorders. 3(4):316-24 [DOI] 10.1007/s11689-011-9094-3. [PMID] 21881965.
2010
Clinical and genetic aspects of Angelman syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics. 12(7):385-95 [DOI] 10.1097/GIM.0b013e3181def138. [PMID] 20445456.
2010
Epigenetic regulation of pericentromeric heterochromatin during mammalian meiosis.
Cytogenetic and genome research. 129(4):280-9 [DOI] 10.1159/000315903. [PMID] 20606401.
2010
Prader-Willi and Angelman Syndromes: Genetic Counseling Reply
European Journal of Human Genetics. 18(2):155-156 [DOI] 10.1038/ejhg.2009.153.
2009
A Novel 16Q24 Microdeletion Syndrome Involving the Fox Transcription Factor Gene Cluster.
Chromosome Research. 17
2009
Alu-Mediated Deletions and Point Mutations Within the Fox Transcription Factor Gene Cluster On 16Q24.1 Result in Alveolar Capillary Dysplasia/Misalignment of Pulmonary Veins and Multiple Congenital Ma
Chromosome Research. 17
2009
Early childhood obesity is associated with compromised cerebellar development.
Developmental neuropsychology. 34(3):272-83 [DOI] 10.1080/87565640802530961. [PMID] 19437203.
2009
Genomic and Genic Deletions of the Fox Gene Cluster On 16Q24.1 and Inactivating Mutations of Foxf1 Cause Alveolar Capillary Dysplasia and Other Malformations (Vol 84, Pg 780, 2009)
The American Journal of Human Genetics. 85(4) [DOI] 10.1016/j.ajhg.2009.08.013.
2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
American journal of human genetics. 84(6):780-91 [DOI] 10.1016/j.ajhg.2009.05.005. [PMID] 19500772.
2009
Imprinting and Childhood Obesity: the Prader-Willi Syndrome Paradigm
Hormone Research. 72
2009
Is gestation in Prader-Willi syndrome affected by the genetic subtype?
Journal of assisted reproduction and genetics. 26(8):461-6 [DOI] 10.1007/s10815-009-9341-7. [PMID] 19760168.
2009
Loss-Of-Function Mutations in Sim1 Cause a Specific Form of Prader-Willi-Like Syndrome
. 52
2009
Prader-Willi syndrome.
European journal of human genetics : EJHG. 17(1):3-13 [DOI] 10.1038/ejhg.2008.165. [PMID] 18781185.
2009
Sleep Disordered Breathing in Infants With Prader-Willi Syndrome During the First 6 Weeks of Growth Hormone Therapy: a Pilot Study
Journal of Clinical Sleep Medicine. 5:448-453
2009
Sleep disordered breathing in infants with Prader-Willi syndrome during the first 6 weeks of growth hormone therapy: a pilot study.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. 5(5):448-53 [PMID] 19961030.
2008
Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity.
American journal of medical genetics. Part A. 146A(5):570-7 [PMID] 17431897.
2007
Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome.
Journal of neurology, neurosurgery, and psychiatry. 78(6):615-9 [PMID] 17158560.
2007
Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome.
American journal of medical genetics. Part A. 143A(5):476-83 [PMID] 17103438.
2007
Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity.
Genetics in medicine : official journal of the American College of Medical Genetics. 9(8):536-43 [PMID] 17700392.
2007
Trimethylation of histone H3 lysine 4 is an epigenetic mark at regions escaping mammalian X inactivation.
Epigenetics. 2(2):114-8 [PMID] 17965609.
2007
Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome.
American journal of medical genetics. Part A. 143A(5):422-9 [PMID] 17036336.
2007
X-chromosome inactivation patterns in females with Prader-Willi syndrome.
American journal of medical genetics. Part A. 143A(5):469-75 [PMID] 17036338.
2006
Histone H3 lysine 4 dimethylation is enriched on the inactive sex chromosomes in male meiosis but absent on the inactive X in female somatic cells.
Cytogenetic and genome research. 112(1-2):11-5 [PMID] 16276085.
2006
Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p.
Arthritis and rheumatism. 54(5):1573-9 [PMID] 16645992.
2006
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.
The Journal of pediatrics. 149(2):192-8 [PMID] 16887432.
2006
Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome.
The Journal of clinical endocrinology and metabolism. 91(2):413-7 [PMID] 16317059.
2005
Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.
Nucleic acids research. 33(15):4740-53 [PMID] 16116039.
2005
Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.
Genomics. 85(1):85-91 [PMID] 15607424.
2005
Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI.
Journal of neurology, neurosurgery, and psychiatry. 76(2):260-2 [PMID] 15654046.
2004
Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis.
Proceedings of the National Academy of Sciences of the United States of America. 101(47):16583-7 [PMID] 15536132.
2004
Effects of topiramate in adults with Prader-Willi syndrome.
American journal of mental retardation : AJMR. 109(4):301-9 [PMID] 15176917.
2002
Anorexigenic melanocortin signaling in the hypothalamus is augmented in association with failure-to-thrive in a transgenic mouse model for Prader-Willi syndrome.
Brain research. 957(1):42-5 [PMID] 12443978.
2002
Secondary organic aerosol formation from the irradiation of simulated automobile exhaust.
Journal of the Air & Waste Management Association (1995). 52(3):259-72 [PMID] 11924857.
2002
Topiramate attenuates self-injurious behaviour in Prader-Willi Syndrome.
The international journal of neuropsychopharmacology. 5(2):141-5 [DOI] 10.1017/S1461145702002833. [PMID] 12135538.
2001
A family with a grand-maternally derived interstitial duplication of proximal 15q.
Clinical genetics. 60(6):421-30 [PMID] 11846734.
2001
Angelman syndrome: mimicking conditions and phenotypes.
American journal of medical genetics. 101(1):59-64 [PMID] 11343340.
2001
Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
Journal of medical genetics. 38(12):834-45 [PMID] 11748306.
2000
DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting.
Prenatal diagnosis. 20(4):300-6 [PMID] 10740202.
1999
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.
Proceedings of the National Academy of Sciences of the United States of America. 96(14):8064-9 [PMID] 10393948.
1999
A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region.
Human molecular genetics. 8(5):783-93 [PMID] 10196367.
1999
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
American journal of human genetics. 65(2):370-86 [PMID] 10417280.
1999
Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region.
Human molecular genetics. 8(5):795-803 [PMID] 10196368.
1999
Imprinting-mutation mechanisms in Prader-Willi syndrome.
American journal of human genetics. 64(2):397-413 [PMID] 9973278.
1999
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.
American journal of human genetics. 64(2):385-96 [PMID] 9973277.
1999
Report of the fourth international workshop on human chromosome 15 mapping 1997.
Cytogenetics and cell genetics. 84(1-2):12-21 [PMID] 10343092.
1999
Transmission of Angelman syndrome by an affected mother.
Genetics in medicine : official journal of the American College of Medical Genetics. 1(6):262-6 [PMID] 11258627.
1998
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
Human mutation. 11(5) [PMID] 10336779.
1998
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
American journal of medical genetics. 77(3):198-200 [PMID] 9605586.
1998
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
American journal of medical genetics. 77(1):8-11 [PMID] 9557885.
1997
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
American journal of medical genetics. 68(2):195-206 [PMID] 9028458.
1997
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
Molecular human reproduction. 3(4):321-32 [PMID] 9237260.
1997
NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Human mutation. 9(6):548-54 [PMID] 9195229.
1997
Unexpected familial recurrence in Angelman syndrome.
American journal of medical genetics. 70(3):253-60 [PMID] 9188662.
1996
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.
American journal of medical genetics. 62(1):10-5 [PMID] 8779316.
1996
DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region.
American journal of medical genetics. 61(2):140-6 [PMID] 8669440.
1996
Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?
American journal of human genetics. 58(4):777-84 [PMID] 8644742.
1996
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
American journal of human genetics. 58(2):335-46 [PMID] 8571960.
1996
Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.
American journal of human genetics. 58(1):161-70 [PMID] 8554052.
1996
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
Proceedings of the National Academy of Sciences of the United States of America. 93(15):7811-5 [PMID] 8755558.
1996
Multiple imprinted genes associated with Prader-Willi syndrome and location of an imprinting control element.
Acta geneticae medicae et gemellologiae. 45(1-2):87-9 [PMID] 8872016.
1995
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.
Human molecular genetics. 4(9):1677-9 [PMID] 8541862.
1995
Angelman syndrome.
Current problems in pediatrics. 25(7):216-31 [PMID] 8521718.
1995
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.
American journal of medical genetics. 56(2):237-8 [PMID] 7625452.
1994
Genomic imprinting in humans.
Molecular genetic medicine. 4:37-77 [PMID] 7981630.
1993
Allele-specific replication timing of imprinted gene regions.
Nature. 364(6436):459-63 [PMID] 8332218.
1993
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.
Human molecular genetics. 2(7):869-73 [PMID] 8364568.
1993
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
American journal of medical genetics. 47(4):504-11 [PMID] 8256814.
1993
Cytogenetic and molecular analysis in Angelman syndrome.
American journal of medical genetics. 46(1):7-11 [PMID] 8098583.
1993
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.
American journal of medical genetics. 47(5):683-6 [PMID] 8266996.
1993
Functional imprinting and epigenetic modification of the human SNRPN gene.
Human molecular genetics. 2(12):2001-5 [PMID] 8111367.
1993
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
Human molecular genetics. 2(9):1377-82 [PMID] 8242060.
1993
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies.
American journal of medical genetics. 46(4):379-83 [PMID] 8357008.
1992
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
Genomics. 13(4):917-24 [PMID] 1505981.
1992
Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.
American journal of medical genetics. 44(1):61-5 [PMID] 1519653.
1991
Programmed demethylation in CpG islands during human fetal development.
Somatic cell and molecular genetics. 17(2):159-68 [PMID] 2011794.
1990
Sex difference in methylation of single-copy genes in human meiotic germ cells: implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations.
Somatic cell and molecular genetics. 16(3):267-82 [PMID] 1694309.
1989
A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome.
Genomics. 5(4):880-93 [PMID] 2574149.
1989
Molecular genetic approach to the characterization of the “Down syndrome region” of chromosome 21.
Genomics. 5(2):325-31 [PMID] 2529205.
1988
Corneal tyrosine crystals in transient neonatal tyrosinemia.
The Journal of pediatrics. 113(1 Pt 1):91-3 [PMID] 3385538.
1988
Localization of G6PD and HPRT to different arms of the X chromosome of the North American marsupial (Didelphis virginiana) by in situ hybridization and deletion mapping: evolutionary significance.
Genomics. 3(4):308-14 [PMID] 3243545.
1979
Nonhomologous associations of C-heterochromatin at human male meitoic prophase.
Cytogenetics and cell genetics. 23(1-2):23-32 [PMID] 761482.

Grants

Oct 2020 – Apr 2023
Dissecting the Various Nutritional Phases of the Prader-Willi Syndrome by Metabolomics: Implications for Therapeutics and Drug Trial Efficacy
Role: Principal Investigator
Funding: PRADER-WILLI SYNDROME ASSO
Jun 2017 – May 2019
Evaluating Factors that may affect the Efficacy of Intranasal Oxytocin Treatment in PWS
Role: Principal Investigator
Funding: FOU FOR PRADER-WILLI RESEARCH
Jun 2017 – May 2019
Phase 2 Study: Intranasal Oxytocin for Treatment of Infants and Children with Prader-Willi Syndrome in Nutritional Phase 1a
Role: Co-Investigator
Funding: PRADER-WILLI SYNDROME ASSO
Apr 2015 – Mar 2016
Plasma PYY, PP, GLP-1 and GLP-2 in Prader-Willi Syndrome
Role: Principal Investigator
Funding: MEDGENICS INC
Jul 2014 – Jun 2019
CLINICAL TRIAL OPERATION ACCOUNT
Role: Principal Investigator
Funding: 214 OPERATING ACCOUNT
Jul 2014 – Jun 2016
Nutritional Aspects of Prader-Willi Syndrome and Childhood Obesity: A Metabolomics Approach
Role: Principal Investigator
Funding: FOU FOR PRADER-WILLI RESEARCH
Feb 2009 – Jun 2023
Translational Research in Prader-Willi Syndrome and Obesity
Role: Principal Investigator
Funding: UF FOUNDATION
Sep 2002 ACTIVE
92050504
Role: Principal Investigator
Funding: HAYWARD FOU, JOHN & WINIFRED
Jul 2001 – Jul 2022
J. T. & W.M. Hayward Professorship in Genetics Research
Role: Principal Investigator
Funding: UF FOUNDATION

Education

Fellowship – Medical Genetics
1989 · Johns Hopkins University
Residency – Pediatrics
1986 · Johns Hopkins University
Internship – Pediatrics
1984 · Johns Hopkins University
Medical Degree
1983 · Albany Medical College
PhD (Medical Genetics)
1983 · Indiana University School of Medicine
MS (Genetic Counseling)
1974 · Rutgers University
BA (Honors in Biology)
1973 · Colgate University

Contact Details

Phones:
Business:
(352) 294-5050
Emails:
Addresses:
Business Mailing:
DEPARTMENT OF PEDIATRICS
PO BOX 100296
DIVISION OF GENETICS AND METABOLISM
GAINESVILLE FL 326100296
Business Street:
1600 SW ARCHER RD
GAINESVILLE FL 32610