DavidJHarrisMD

PubMed

• New species need characters: comments on recently described apicomplexan parasites from Australia.
  Harris, D. J.> ;Parasit Vectors. 2019 Apr 18
• DeepPhe: A Natural Language Processing System for Extracting Cancer Phenotypes from Clinical Records
  David Harris, MD> ;Clinical Cancer Research.
• Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.
  Waisbren, S. E.,Rohr, F.,Anastasoaie, V.,Brown, M.,Harris, D.,Ozonoff, A.,Petrides, S.,Wessel, A.,Levy, H. L.> ;JIMD Rep. 2015 Feb 26
• 118 citations
  Copy number variation plays an important role in clinical epilepsy
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Annals of Neurology. 2014 Jun 1
• 69 citations
  Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
  Catherine A. Brownstein, Meghan C. Towne, Lovelace J. Luquette, David J. Harris, Nicholas S. Marinakis, Peter Meinecke, Kerstin Kutsche, Philippe M. Campeau, Timothy W...> ;European Journal of Medical Genetics. 2013 Dec 1
• 51 citations
  Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
  Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol L. Clericuzio, ...> ;Human Genetics. 2013 Jan 25
• Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
  Talkowski, M. E., Maussion, G., Crapper, L., Rosenfeld, J. A., Blumenthal, I., Hanscom, C., Chiang, C., Lindgren, A., Pereira, S., Ruderfer, D., Diallo, A. B., Lopez, ...> ;Am J Hum Genet. 2012 Dec 7
• 14 citations
  Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.
  Saumya Shekhar Jamuar, Stephanie A. Newton, Sanjay P. Prabhu, Leah Hecht, Karen C. Costas, Ann Wessel, David J. Harris, Irina Anselm, Gerard T. Berry> ;Molecular Genetics and Metabolism. 2012 Aug 1
• Molecular survey of Apicomplexa in Podarcis wall lizards detects Hepatozoon, Sarcocystis, and Eimeria species.
  Harris, D. J.,Maia, J. P.,Perera, A.> ;J. Parasitol.. 2012 Jul 04
• Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries.
  Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., Pereira, S., Ruderf...> ;Cell. 2012 Apr 27
• Molecular characterization of Hepatozoon species in reptiles from the Seychelles.
  Harris, D. J.,Maia, J. P.,Perera, A.> ;J. Parasitol.. 2011 Feb 26
• 8 citations
  Autosomal dominant inheritance of a negative electroretinogram phenotype in three generations.
  Kathleen M. Fitzgerald, Takao Hashimoto, Timothy E Hug, Gerhard W. Cibis, David J. Harris> ;American Journal of Ophthalmology. 2001 Apr 1
• 27 citations
  A deletion polymorphism due to Alu-Alu recombination in intron 2 of the retinoblastoma gene: association with human gliomas.
  Paul G. Rothberg, Satish Ponnuru, Darren W. Baker, John F. Bradley, Arnold I. Freeman, Gerhard W. Cibis, David J. Harris, Daniel P. Heruth> ;Molecular Carcinogenesis. 1997 Jul 1
• 77 citations
  Retinal signal transmission in Duchenne muscular dystrophy: evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway.
  Kathleen M. Fitzgerald, Gerhard W. Cibis, Steven A. Giambrone, David J. Harris> ;The Journal of Clinical Investigation. 1994 Jun 1
• 83 citations
  The effects of dystrophin gene mutations on the ERG in mice and humans.
  Gerhard W. Cibis, Kathleen M. Fitzgerald, David J. Harris, Paul G. Rothberg, Mahendra Rupani> ;Investigative Ophthalmology & Visual Science. 1993 Dec 1
• Determination of pyridoxamine 5'-phosphate in human blood plasma
  Bob In-yu Yang, David J. Harris> ;Analytical Biochemistry. 1991 Nov 15
• 33 citations
  Corneal keloid in Lowe's syndrome.
  Gerhard W. Cibis, Ramesh C. Tripathi, Brenda J. Tripathi, David J. Harris> ;Archives of Ophthalmology. 1982 Nov 1
• 47 citations
  Dominantly Inherited Macular Dystrophy With Flecks (Stargardt)
  Gerhard W. Cibis, Martha Morey, David J. Harris> ;Archives of Ophthalmology. 1980 Oct 1
• 15 citations
  Dysautonomia in an Infant with Secondary Hyperammonemia Due to Propionyl Coenzyme A Carboxylase Deficiency
  Bob In-yu Yang, Barry Wolf, Phillip J. Snodgrass> ;Pediatrics. 1980 Jan 1
• 14 citations
  Cytogenetic analysis of a boy with the XXXY syndrome: origin of the X-chromosomes.
  Robert M. Greenstein, Luigi Luzzatti, Howard M. Cann> ;Pediatrics. 1970 Apr 1
• Trifluridine for herpes zoster.
  Harris, D. J.> ;N Engl J Med. 1994 Aug 18
• Systematic and phylogeographical assessment of the Acanthodactylus erythrurus group (Reptilia: Lacertidae) based on phylogenetic analyses of mitochondrial and nuclear ...
  Fonseca, M. M., Brito, J. C., Paulo, O. S., Carretero, M. A., Harris, D. J.> ;Mol Phylogenet Evol. 2009 May 01
• Diversity and phylogenetic relationships of Hemidactylus geckos from the Comoro islands.
  Rocha, S., Carretero, M. A., Harris, D. J.> ;Mol Phylogenet Evol. 2005 Apr
• Complex estimates of evolutionary relationships in Tarentola mauritanica (Reptilia: Gekkonidae) derived from mitochondrial DNA sequences.
  Harris, D. J., Batista, V., Lymberakis, P., Carretero, M. A.> ;Mol Phylogenet Evol. 2004 Mar
• Exfoliation Material on Intraocular Lens Implants
  David J. Harris> ;Archives of Ophthalmology. 1996 Nov 1
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