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D. J. Driscoll · SciRah

Researcher profile · Semantic Scholar

D. J. Driscoll

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D. J. Driscoll — researcher profile on SciRah

h-index: 36
Works: 100
Citations: 5,792

Most-cited papers

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
P. Stankiewicz, P. Sen, S. Bhatt, M. Storer +40 more
2009American Journal of Human Genetics434 citations Open access
Semantic Scholar
Allele-specific replication timing of imprinted gene regions
Daniel Kitsberg, S. Selig, M. Brandels, I. Simon +4 more
1993Nature393 citations
Semantic Scholar
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
A. Lossie, M. M. Whitney, D. Amidon, H.-J. Dong +7 more
2001Journal of Medical Genetics367 citations Open access
Semantic Scholar
Clinical and genetic aspects of Angelman syndrome
Charles A. Williams, D. J. Driscoll, A. Dagli
2010Genetics in Medicine307 citations Open access
Semantic Scholar
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
James M. Amos-Landgraf, Yonggang Ji, W. Gottlieb, Theresa W. Depinet +6 more
1999American Journal of Human Genetics283 citations Open access
Semantic Scholar
Imprinting-mutation mechanisms in Prader-Willi syndrome.
T. Ohta, T. Gray, P. Rogan, K. Buiting +9 more
1999American Journal of Human Genetics266 citations Open access
Semantic Scholar
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
C. Glenn, S. Saitoh, M. T. C. Jong, M. M. Filbrandt +3 more
1996American Journal of Human Genetics253 citations
Semantic Scholar
A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region.
M. T. C. Jong, T. Gray, Yonggang Ji, C. Glenn +3 more
1999Human Molecular Genetics230 citations Open access
Semantic Scholar
Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis.
A. Khalil, F. Boyar, D. J. Driscoll
2004Proceedings of the National Academy of Sciences of the United States of America178 citations Open access
Semantic Scholar
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
D. J. Driscoll, B. Migeon
1990Somatic Cell Genetics159 citations
Semantic Scholar
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study
M. Butler, S. N. Hartin, W. Hossain, A. Manzardo +8 more
2018Journal of Medical Genetics140 citations Open access
Semantic Scholar
Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome.
Jennifer L. Miller, J. Silverstein, J. Shuster, D. J. Driscoll +1 more
2006Journal of Clinical Endocrinology and Metabolism138 citations
Semantic Scholar
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome
L. C. Burnett, C. Leduc, Carlos R. Sulsona, Daniel Paull +21 more
2016Journal of Clinical Investigation132 citations Open access
Semantic Scholar
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
A. Bonnefond, Anne Raimondo, F. Stutzmann, M. Ghoussaini +20 more
2013Journal of Clinical Investigation132 citations Open access
Semantic Scholar
Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI
N. A. Shapira, M. Lessig, Alex G. He, G. James +2 more
2005Journal of Neurology Neurosurgery & Psychiatry132 citations Open access
Semantic Scholar
Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader–Willi syndrome
Jennifer L. Miller, G. James, A. Goldstone, Jessica A. Couch +3 more
2006Journal of Neurology Neurosurgery & Psychiatry130 citations Open access
Semantic Scholar
Angelman syndrome: mimicking conditions and phenotypes.
Charles A. Williams, A. Lossie, D. J. Driscoll
2001American journal of medical genetics124 citations
Semantic Scholar
Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region.
M. T. C. Jong, A. Carey, K. A. Caldwell, M.-H. Lau +5 more
1999Human Molecular Genetics109 citations Open access
Semantic Scholar
Oxytocin treatment in children with Prader–Willi syndrome: A double-blind, placebo-controlled, crossover study
Jennifer L. Miller, R. Tamura, M. Butler, V. Kimonis +3 more
2017American Journal of Medical Genetics. Part A105 citations Open access
Semantic Scholar
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
Shinji Saitoh, K. Buiting, S. B. Cassidy, Jeffrey M. Conroy +14 more
1997American journal of medical genetics102 citations
Semantic Scholar
Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes
S. Kim, Jennifer L. Miller, P. J. Kuipers, J. German +3 more
2011European Journal of Human Genetics100 citations Open access
Semantic Scholar
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.
C. A. Williams, H. Angelman, J. Clayton-Smith, D. J. Driscoll +6 more
1995American journal of medical genetics98 citations
Semantic Scholar
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.
T. Ohta, K. Buiting, H. Kokkonen, Shawn E. McCandless +6 more
1999American Journal of Human Genetics86 citations Open access
Semantic Scholar
Effects of topiramate in adults with Prader-Willi syndrome.
N. A. Shapira, M. Lessig, M. Lewis, W. Goodman +1 more
2004American journal of mental retardation : AJMR76 citations
Semantic Scholar
Topiramate attenuates self-injurious behaviour in Prader-Willi Syndrome.
N. A. Shapira, M. Lessig, T. Murphy, D. J. Driscoll +1 more
2002International Journal of Neuropsychopharmacology69 citations Open access
Semantic Scholar
Growth Standards of Infants With Prader-Willi Syndrome
M. Butler, Jennifer Sturich, Jaehoon Lee, S. Myers +6 more
2011Pediatrics60 citations Open access
Semantic Scholar
Fuel Characteristics of Vegetable Oil from Oilseed Crops in the Pacific Northwest 1
B. Bettis, C. Peterson, D. Auld, D. J. Driscoll +1 more
198158 citations
Semantic Scholar
Growth Charts for Non-Growth Hormone Treated Prader-Willi Syndrome
M. Butler, Jaehoon Lee, A. Manzardo, J. Gold +3 more
2015Pediatrics56 citations Open access
Semantic Scholar
Early Childhood Obesity is Associated with Compromised Cerebellar Development
Jennifer L. Miller, Jessica A. Couch, Krista Schwenk, Michelle T. Long +6 more
2009Developmental Neuropsychology54 citations Open access
Semantic Scholar
Prader–Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study
M. Butler, V. Kimonis, E. Dykens, J. Gold +3 more
2017American Journal of Medical Genetics. Part A53 citations Open access
Semantic Scholar
Is gestation in Prader-Willi syndrome affected by the genetic subtype?
M. Butler, Jennifer Sturich, S. Myers, J. Gold +2 more
2009Journal of Assisted Reproduction and Genetics50 citations Open access
Semantic Scholar
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies.
R. Zori, Brian A. Gray, A. Bent-Williams, D. J. Driscoll +2 more
1993American journal of medical genetics50 citations
Semantic Scholar
Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p.
Hao-Yang Zhuang, M. Kosboth, Pui Y. Lee, Amanda D. Rice +7 more
2006Arthritis & Rheumatism49 citations
Semantic Scholar
Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus
Sara Rodriguez-Jato, R. Nicholls, D. J. Driscoll, Thomas P. Yang
2005Nucleic Acids Research48 citations Open access
Semantic Scholar
Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment
M. Butler, Jaehoon Lee, Devin M Cox, A. Manzardo +6 more
2016La Clinica pediatrica40 citations Open access
Semantic Scholar
Early Diagnosis in Prader–Willi Syndrome Reduces Obesity and Associated Co-Morbidities
V. Kimonis, R. Tamura, J. Gold, Nidhi Patel +7 more
2019Genes36 citations Open access
Semantic Scholar
Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome
R. Henkhaus, S. Kim, V. Kimonis, J. Gold +3 more
2012Genetic Testing and Molecular Biomarkers35 citations Open access
Semantic Scholar
Sleep disordered breathing in infants with Prader-Willi syndrome during the first 6 weeks of growth hormone therapy: a pilot study.
Jennifer L. Miller, J. Shuster, D. Theriaque, D. J. Driscoll +1 more
2009Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine35 citations Open access
Semantic Scholar
Cytogenetic and molecular analysis in Angelman syndrome.
J. Zackowski, R. Nicholls, B. Gray, A. Bent-Williams +6 more
1993American journal of medical genetics35 citations
Semantic Scholar
Report of the fourth international workshop on human chromosome 15 mapping 1997
C. Morton, S. Christian, T. Donlon, D. J. Driscoll +24 more
1999Cytogenetic and Genome Research34 citations
Semantic Scholar
Nonhomologous associations of C-heterochromatin at human male meitoic prophase.
D. J. Driscoll, C. Palmer, A. Melman
1979Cytogenetics and Cell Genetics34 citations
Semantic Scholar
Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.
D. Bittel, N. Kibiryeva, Z. Talebizadeh, D. J. Driscoll +1 more
2005Genomics33 citations Open access
Semantic Scholar
Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader–Willi syndrome
Cindi G. Flores, G. Valcante, S. Guter, Annette Zaytoun +7 more
2011Journal of Neurodevelopmental Disorders32 citations Open access
Semantic Scholar
Evaluating Sleep Disturbances in Children with Rare Genetic Neurodevelopmental Syndromes
Olivia J. Veatch, B. Malow, Hye-Seung Lee, A. Knight +18 more
2021bioRxiv31 citations Open access
Semantic Scholar
Clinical utility gene card for: Angelman Syndrome
K. Buiting, J. Clayton-Smith, D. J. Driscoll, G. Gillessen-kaesbach +4 more
2014European Journal of Human Genetics31 citations Open access
Semantic Scholar
Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi Syndrome (PWS) retain the molecular signature of PWS
L. C. Burnett, C. Leduc, Carlos R. Sulsona, Daniel Paull +7 more
2016Stem Cell Research30 citations Open access
Semantic Scholar
A multicenter study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome
Preeti Singh, R. Mahmoud, J. Gold, Jennifer L. Miller +6 more
2018Journal of Medical Genetics29 citations Open access
Semantic Scholar
Critical review of bariatric surgical outcomes in patients with Prader‐Willi syndrome and other hyperphagic disorders
M. Gantz, D. J. Driscoll, Jennifer L. Miller, J. Duis +4 more
2022Obesity28 citations
Semantic Scholar
Trimethylation of Histone H3 Lysine 4 is an Epigenetic Mark at Regions Escaping Mammalian X Inactivation
A. Khalil, D. J. Driscoll
2007Epigenetics27 citations Open access
Semantic Scholar
Programmed demethylation in CpG islands during human fetal development
B. Migeon, M. Holland, D. J. Driscoll, J. Robinson
1991Somatic Cell Genetics27 citations
Semantic Scholar

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