Daniel J Driscoll

Daniel J Driscoll, MD, PhD

Professor

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

Board Certifications

  • Medical Genetics
    American Board of Medical Genetics
  • Pediatrics
    American Board of Pediatrics

Clinical Profile

Specialties
  • Pediatric Genetics and Metabolism
  • Pediatrics
Subspecialties
  • Clinical Molecular Genetics
Areas of Interest
  • Angelman syndrome
  • Genetics
  • Obesity
  • Prader-Willi syndrome

Publications

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(9):2328-33 [DOI] 10.1002/ajmg.a.37777. [PMID] 27518917.
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
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.
View on: PubMed
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: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.
View on: PubMed
2008
Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program.
Annals of human genetics. 72(Pt 5):636-43 [DOI] 10.1111/j.1469-1809.2008.00458.x. [PMID] 18564129.
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.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
2007
Klippel-Trenaunay syndrome: incidence and treatment of genitourinary sequelae.
The Journal of urology. 177(4):1244-9 [PMID] 17382698.
View on: PubMed
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.
View on: PubMed
2007
Trimethylation of histone H3 lysine 4 is an epigenetic mark at regions escaping mammalian X inactivation.
Epigenetics. 2(2):114-8 [PMID] 17965609.
View on: PubMed
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.
View on: PubMed
2007
X-chromosome inactivation patterns in females with Prader-Willi syndrome.
American journal of medical genetics. Part A. 143A(5):469-75 [PMID] 17036338.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
2006
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.
The Journal of pediatrics. 149(2):192-8 [PMID] 16887432.
View on: PubMed
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.
View on: PubMed
2005
Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.
Nucleic acids research. 33(15):4740-53 [PMID] 16116039.
View on: PubMed
2005
Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.
Genomics. 85(1):85-91 [PMID] 15607424.
View on: PubMed
2005
Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI.
Journal of neurology, neurosurgery, and psychiatry. 76(2):260-2 [PMID] 15654046.
View on: PubMed
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.
View on: PubMed
2004
Effects of topiramate in adults with Prader-Willi syndrome.
American journal of mental retardation : AJMR. 109(4):301-9 [PMID] 15176917.
View on: PubMed
2003
Progression of familial and non-familial dilated cardiomyopathy: long term follow up.
Heart (British Cardiac Society). 89(7):757-61 [PMID] 12807850.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
2001
Angelman syndrome: mimicking conditions and phenotypes.
American journal of medical genetics. 101(1):59-64 [PMID] 11343340.
View on: PubMed
2001
Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
Journal of medical genetics. 38(12):834-45 [PMID] 11748306.
View on: PubMed
2001
Pulmonary atresia with ventricular septal defect and persistent airway hyperresponsiveness.
The Journal of thoracic and cardiovascular surgery. 122(1):169-77 [PMID] 11436051.
View on: PubMed
2001
Task force 2: special health care needs of adults with congenital heart disease.
Journal of the American College of Cardiology. 37(5):1176-83 [PMID] 11300419.
View on: PubMed
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.
View on: PubMed
2000
Influence of ventricular morphology on outcome after the Fontan procedure.
The American journal of cardiology. 86(3):319-23 [PMID] 10922441.
View on: PubMed
2000
Surgical treatment of venous malformations in Klippel-Trénaunay syndrome.
Journal of vascular surgery. 32(5):840-7 [PMID] 11054214.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
1999
Imprinting-mutation mechanisms in Prader-Willi syndrome.
American journal of human genetics. 64(2):397-413 [PMID] 9973278.
View on: PubMed
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.
View on: PubMed
1999
Report of the fourth international workshop on human chromosome 15 mapping 1997.
Cytogenetics and cell genetics. 84(1-2):12-21 [PMID] 10343092.
View on: PubMed
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.
View on: PubMed
1998
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
Human mutation. 11(5) [PMID] 10336779.
View on: PubMed
1998
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
American journal of medical genetics. 77(3):198-200 [PMID] 9605586.
View on: PubMed
1998
Predictors of early- and late-onset supraventricular tachyarrhythmias after Fontan operation.
Circulation. 98(11):1099-107 [PMID] 9736597.
View on: PubMed
1998
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
American journal of medical genetics. 77(1):8-11 [PMID] 9557885.
View on: PubMed
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.
View on: PubMed
1997
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
Molecular human reproduction. 3(4):321-32 [PMID] 9237260.
View on: PubMed
1997
Health supervision for children with Turner syndrome.
Pediatrics. 99(1) [PMID] 8989360.
View on: PubMed
1997
NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Human mutation. 9(6):548-54 [PMID] 9195229.
View on: PubMed
1997
Unexpected familial recurrence in Angelman syndrome.
American journal of medical genetics. 70(3):253-60 [PMID] 9188662.
View on: PubMed
1996
Cardiorespiratory function before and after corrective surgery in pectus excavatum.
The Journal of pediatrics. 129(6):943-4 [PMID] 8969745.
View on: PubMed
1996
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.
American journal of medical genetics. 62(1):10-5 [PMID] 8779316.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
1996
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
American journal of human genetics. 58(2):335-46 [PMID] 8571960.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
1995
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.
Human molecular genetics. 4(9):1677-9 [PMID] 8541862.
View on: PubMed
1995
Angelman syndrome.
Current problems in pediatrics. 25(7):216-31 [PMID] 8521718.
View on: PubMed
1995
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.
American journal of medical genetics. 56(2):237-8 [PMID] 7625452.
View on: PubMed
1995
DNA fluorescent probes for diagnosis of velocardiofacial and related syndromes.
Mayo Clinic proceedings. 70(12):1148-53 [PMID] 7490915.
View on: PubMed
1995
Frequency of familial dilated cardiomyopathy.
European heart journal. 16 Suppl O:2-4 [PMID] 8682093.
View on: PubMed
1995
Repair of congenital and acquired pulmonary vein stenosis.
The Annals of thoracic surgery. 60(1):144-50 [PMID] 7598577.
View on: PubMed
1994
Enteric protein loss after the Fontan operation.
Mayo Clinic proceedings. 69(2):112-4 [PMID] 8309260.
View on: PubMed
1994
Genomic imprinting in humans.
Molecular genetic medicine. 4:37-77 [PMID] 7981630.
View on: PubMed
1994
Growth patterns of hyperlipidemic children enrolled in a preventive cardiovascular health clinic.
Clinical pediatrics. 33(10):588-92 [PMID] 7813137.
View on: PubMed
1993
Allele-specific replication timing of imprinted gene regions.
Nature. 364(6436):459-63 [PMID] 8332218.
View on: PubMed
1993
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.
Human molecular genetics. 2(7):869-73 [PMID] 8364568.
View on: PubMed
1993
Cardiorespiratory response to exercise after the Fontan operation: a serial study.
Journal of the American College of Cardiology. 22(1):216-20 [PMID] 8251012.
View on: PubMed
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.
View on: PubMed
1993
Cytogenetic and molecular analysis in Angelman syndrome.
American journal of medical genetics. 46(1):7-11 [PMID] 8098583.
View on: PubMed
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.
View on: PubMed
1993
Dystrophin analysis in idiopathic dilated cardiomyopathy.
Journal of medical genetics. 30(11):955-7 [PMID] 8301653.
View on: PubMed
1993
Functional imprinting and epigenetic modification of the human SNRPN gene.
Human molecular genetics. 2(12):2001-5 [PMID] 8111367.
View on: PubMed
1993
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
Human molecular genetics. 2(9):1377-82 [PMID] 8242060.
View on: PubMed
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.
View on: PubMed
1993
Second natural history study of congenital heart defects. Results of treatment of patients with ventricular septal defects.
Circulation. 87(2 Suppl):I38-51 [PMID] 8425321.
View on: PubMed
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.
View on: PubMed
1992
Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis.
Journal of medical genetics. 29(1):56-7 [PMID] 1552547.
View on: PubMed
1992
Five- to fifteen-year follow-up after Fontan operation.
Circulation. 85(2):469-96 [PMID] 1735145.
View on: PubMed
1992
Operative treatment of Ebstein’s anomaly.
The Journal of thoracic and cardiovascular surgery. 104(5):1195-202 [PMID] 1434695.
View on: PubMed
1992
Subaortic obstruction in hearts with a univentricular connection to a dominant left ventricle and an anterior subaortic outlet chamber. Results of a staged approach.
The Journal of thoracic and cardiovascular surgery. 104(5):1231-7 [PMID] 1308112.
View on: PubMed
1992
Variability in response to a low-fat, low-cholesterol diet in children with elevated low-density lipoprotein cholesterol levels.
Pediatrics. 89(5 Pt 1):925-9 [PMID] 1579405.
View on: PubMed
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.
View on: PubMed
1991
Programmed demethylation in CpG islands during human fetal development.
Somatic cell and molecular genetics. 17(2):159-68 [PMID] 2011794.
View on: PubMed
1990
Safety and utility of endomyocardial biopsy in infants, children and adolescents: a review of 66 procedures in 53 patients.
Journal of the American College of Cardiology. 15(2):436-42 [PMID] 2405039.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
1989
Molecular genetic approach to the characterization of the “Down syndrome region” of chromosome 21.
Genomics. 5(2):325-31 [PMID] 2529205.
View on: PubMed
1988
Corneal tyrosine crystals in transient neonatal tyrosinemia.
The Journal of pediatrics. 113(1 Pt 1):91-3 [PMID] 3385538.
View on: PubMed
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.
View on: PubMed
1988
Palliative transposition of venous return. Long-term follow-up.
The Journal of thoracic and cardiovascular surgery. 96(3):364-7 [PMID] 2457773.
View on: PubMed
1986
Comparison of atriopulmonary versus atrioventricular connections for modified Fontan/Kreutzer repair of tricuspid valve atresia.
The Journal of thoracic and cardiovascular surgery. 92(6):1038-43 [PMID] 2431229.
View on: PubMed
1985
Familial aggregation of idiopathic dilated cardiomyopathy.
The American journal of cardiology. 55(9):1232-3 [PMID] 3984909.
View on: PubMed
1985
High-altitude pulmonary edema with absent right pulmonary artery.
Pediatrics. 75(2):314-7 [PMID] 3969332.
View on: PubMed
1985
Idiopathic dilated cardiomyopathy in the young: clinical profile and natural history.
Journal of the American College of Cardiology. 6(5):1126-31 [PMID] 4045036.
View on: PubMed
1985
Results of the modified Fontan operation for congenital heart lesions in patients without preoperative sinus rhythm.
Journal of the American College of Cardiology. 6(1):228-33 [PMID] 4008777.
View on: PubMed
1985
Surgical repair of Ebstein’s anomaly: selection of patients and early and late operative results.
Circulation. 72(3 Pt 2):II70-6 [PMID] 4028368.
View on: PubMed
1985
Tetralogy of Fallot with absent pulmonary valve. Early and late results of surgical treatment.
The Journal of thoracic and cardiovascular surgery. 89(2):280-7 [PMID] 3968911.
View on: PubMed
1983
Developmental changes in response of dog isolated ventricular myocardium to norepinephrine.
Texas Heart Institute journal. 10(4):397-403 [PMID] 15226974.
View on: PubMed
1981
Phenotype associated with ring 10 chromosome: report of patient and review of literature.
American journal of medical genetics. 9(3):231-7 [PMID] 7025632.
View on: PubMed
1979
Nonhomologous associations of C-heterochromatin at human male meitoic prophase.
Cytogenetics and cell genetics. 23(1-2):23-32 [PMID] 761482.
View on: PubMed
1976
Chest pain in children: a prospective study.
Pediatrics. 57(5):648-51 [PMID] 940705.
View on: PubMed

Grants

Oct 2020 ACTIVE
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 2016
Nutritional Aspects of Prader-Willi Syndrome and Childhood Obesity: A Metabolomics Approach
Role: Principal Investigator
Funding: FOU FOR PRADER-WILLI RESEARCH
Feb 2009 ACTIVE
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 ACTIVE
J. T. & W.M. Hayward Professorship in Genetics Research
Role: Principal Investigator
Funding: UF FOUNDATION

Education

Fellowship – Pediatrics
1989 · Johns Hopkins University
Residency – Pediatrics
1986 · Johns Hopkins University
Internship – Pedicatrics
1984 · Johns Hopkins University
Medical Degree
1983 · Albany Medical College

Contact Details

Phones:
Business:
(352) 294-5050
Emails: