JohnRobertWatersonMDPhD

PubMed

• 10 citations
  A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia
  Simran Madan, Wei Liu, James T. Lu, V. Reid Sutton, Bryant A. Toth
  Molecular Genetics and Metabolism Reports. 2017-09-01
• 82 citations
  Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
  Nils Krone, Nicole Reisch, Jan Idkowiak, Vivek Dhir, Hannah E Ivison
  The Journal of Clinical Endocrinology and Metabolism. 2012-02-01
• 34 citations
  Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome.
  John R. Waterson, Tracy Stockley, Summer Segal, Mahin Golabi
  American Journal of Medical Genetics. Part A. 2010-12-01

Journal Articles

• Molecular Analysis of Cloned Human 18s Ribosomal DNA Segments.  
  Wilson, G., Hollar, B., Waterson, J., and Schmickel, R, Proc. Natl. Acad. Sci. USA 75: 5367 5376
• Novel Duplication in Glypican-4 as an Apparent Cause of Simpson–Golabi–Behmel Syndrome.  
  Waterson J, Stockley TL, Segal S, Golabi M, Am J Med Genet Part A 152A:3179-3181
• Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.  
  Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, Waterson J, Herman GE, Amalfitano A, Thurberg BL, Richards S, Davison M, Corzo D, Chen YT, Jour. Pediatrics 149:89-97
• Trisomy 8 is a characteristic finding in pleuropulmonary blastoma.  
  Novak R, Dasu S, Agamanolis D, Herold W, Malone J, Waterson J, Pediatric Pathology & Laboratory Medicine 17(1):99-103
• TCK: A Clinical Genetics Data Collection System.  
  Gersting, J.M., Waterson, J.R., and Gersting, A.M, Jour. Med. Systems 16: 297 313
• A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.  
  Froster Iskenius, U.G., Waterson, J.R., Hall J.G, Jour. Med. Genet 25:104 112
• Detection of Neural Tube Defects with Alpha Fetoprotein Measurement in Amniotic Fluid: A Protocol for Managing Elevated Values.  
  Wilson, G.N., Raj, A., Waterson, J.R., et al, Reproductive Medicine 31:157 161
• Apert Syndrome with Frontonasal ncephalocele.  
  Waterson, J.R., DiPietro, M.A., Barr, M, Am. Jour. of Medical Genetics, 21:777 783
• Triploidy: Case Report of a Live born Male and an Ethical Dilemma.  
  Faix, R.G., Barr, M., and Waterson, J.R, Pediatrics 74: 296 298
• Hela Cell Identification by Analysis of Ribosomal DNA Segment Patterns Generated by Endo nuclease Restriction.  
  Schmickel, R., Waterson, J., Knoller, M., Szura, L., and Wilson, G, Am. Jour. Hum. Genetics 32: 890 897
• Peptide Chain Elongation: GTP Cleavage Catalyzed by Factors Binding Aminoacyl Transfer RNA to the Ribosome.  
  Ono, Y., Skoultchi, A., Waterson, J., and Lengyel, P, Nature 222: 645 648
• Cysteine Activation in Cultured Cystinotic Cells: The Specific Activity of Cysteinly tRNA Synthetase and tRNA and the Determination of the Michaelis Menton Constants f...  
  Waterson, J., Winter, W., and Schmickel, R., Jour. Clin. Invest. 54: 182 187
• On the movement of the ribosome along the messenger ribonucleic acid and on apparent changes in ribosome conformation during protein synthesis..  
  Lengyel, P, Gupta, S., Sopori, M. Waterson, J., Weissman, S, Basic Life Sciences 1:287-99
• Apparent Changes in Ribosome Conformation During Protein Synthesis: Centrifugation at High Speed Distorts Initiation, Pretranslocation, and Posttranslocation Complexes...  
  Waterson, J., Sopori, M., Gupta, S., and Lengyel, P, Biochemistry 11: 1377 1382
• Studies on Peptide Chain Elongation.  
  Waterson, J, University Microfilm
• Movement of the Ribosome Along the Messenger Ribonucleic Acid During Protein Synthesis.  
  Gupta, S., Waterson, J., Sopori, M., Weissman, S., and Lengyel, P, Biochemistry 10: 4410 4421
• The S1 Factor in Peptide Chain Elongation.  
  Waterson, J., Beaud, G., and Lengyel, P, Nature 227: 34 38
• Peptide Chain Elongation: Indications for the Binding of an Amino Acid Polymerization Factor Guanosine 5' Triphosphate Aminoacyl Transfer Ribonucleic Acid Complex to ...  
  Skoultchi, A., Ono., Y., Waterson, J., and Lengyel, P, Biochemistry 9: 508 514
• Peptide Chain Elongation.  
  Skoultchi, A., Ono, Y., Waterson, J., and Lengyel, P., Cold Spring Harbor Symp. Quant. Biol 34: 437 453
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Books/Book Chapters

• Proceedings of the Fifth Annual Symposium on Computer Applications in Medical Care. 
  Chapter: The Use of a Microcomputer as a Front end Processor for Data Base Management Systems on Large Computers 
  Page 303 - 306Blumenthal, L., and Waterson, JEditors: Heffernan, H. G.IEEE Computer Society Press, New York, NY
• Enzyme Therapy in Genetic Diseases, Birth Defects. 
  Chapter: Techniques for the Isolation of Specific and Functional Templates 
  Schmickel, R., Wilson, G., and Waterson, J. REditors: Desnick, R.Original Article Series
• Birth Defects Encyclopedia. 
  Chapter: Trisomy 16p 
  Waterson, J. REditors: Buyse, M.L.Blackwell, Cambridge
• The Five Minute Consult. 
  Chapter: Turner Syndrome 
  Page 1032 - 1033Waterson, J. REditors: Griffith, H.W. and Dambro, M.Lea and Febiger, Philadelphia
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Abstracts/Posters

• Guidelines for Computerizing a Genetic Center.
  Tross, K.D., Garver, K.L., LaGasse, A.A., Robinson, H.B., Turner, J.H., and Waterson, J.R, 17th Annual Birth Defects Conference, University of Colorado, Denver
• Double methylation disorder--Beckwith-Wiedemann and Angelman syndromes in two patients.
  Randolph, L, Wong, D, Waterson, J, Schoof, J, and Johnson, J, American Society of Human Genetics 60th Annual Meeting, Washington DC
• Neonatal Presentation of Glutaric Aciduria Type 1.
  Cusmano-Ozog, K., Waterson, J., Enns, G., Cowan, T, Fifthteenth Annual Clinical Genetics Meeting, Phoenix, AZ
• A Phase I/II Study of Enzyme Replacement Therapy (ERT) for Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome): 48 Week Progress Report.
  Harmatz, P., Whitley, C.B., Waber, L., Pais, R., Steiner, R., Plecko, B., Kaplan, P., Simon, J., Waterson, J., Hopwoond, J, Am. J. Hum. Genet. 71 (supplement): 582
• Treatment of Classical Infantile Pompe Disease (PIPD) with Recombinant Human Acid Alpha Glucosidase (rhGAA): Preliminary 6 month data from a Phase 2 study.
  Kishani, P., Voit, T., Nicolino, M., Amalfitano, A., Tsai, C.H., Herman, G., Waterson, J., Rogers, R.C., Landy, H., Corzo, D., Thurberg, B., Richards, S., Yong, F.H., ..., Am. Jour. Hum. Genet. 71 (supplement): 582
• A Phase I/II Randomized, Double Blind, Two Dose Group Study of Recombinant Human N-Acetylgalactosamine-4-Sulfatase (rhASB) Enzyme Replacement Therapy in Patients with...
  Harmatz, P., Whitley, C.B., Belani, K., Waber, L., Pais, R., Steiner, R., Plecko, B. Simon, J., Thompson, J., Waterson, J., Lammer, E., Rowe, R., Koseoglu, S., Cohen, ..., Am. Jour. Hum. Genet. 69 (supplement): 674
• The Influence of Maternal Smoking on Alpha-fetoprotein, Human Chorionic Gonadotropin and Unconjugated Estriol Levels and its Impact on Perinatal Outcome.
  Waterson, J.R., Motter, C.S., Stumbaugh, T.L., Gautam, S, Am. Jour. Hum. Genet. 57: A290
• Fluorescent in situ hybridization to confirm sex using fixed tissues.
  Waterson, J.R., Zabel, D.S., Malone, J.M., and Agamonolis, D.P, Am. Jour. Hum. Genet. 51: A90
• Alpha fetoprotein Screening: A Problem in Dissemination of Information.
  Krebs, M.B., Robinson, H.B., and Waterson, J.R, 17th Annual Birth Defects Conference, University of Colorado, Denver
• Stoichiometry of Aminoacyl Transfer RNA Binding and GTP Cleavage During Chain Elongation and Translocation.
  Ono, Y., Skoultchi, A., Waterson, J., and Lengyel, P, Nature 223: 697 701
• Partial Monosomy 3p[del(3)(p25)] Syndrome.
  Waterson, J.R., Malone, J.M., and Novak, P, 17th Annual Birth Defects Conference, University of Colorado, Denver
• The Isolation and Characterization of Two Human Genomic Clones Containing Genes for Transfer RNA.
  Waterson, J.R., Hooks, M, Am. J. Hum. Genet. 34: 166A
• The Chromosomes Sort for the Heart.
  Stern, A.M., Wilson, G.N, Waterson, J.R, a. American Heart Association 55th Scientific Sessions, Dallas, TX
• The Skin New York.
  Stern, A., Waterson, J., and Wilson, G, Am. J. Hum. Genet. 34: 306A
• The Skin.
  Stern, A., Waterson, J., and Wilson, G, Am. J. Hum. Genet. 34: 306A., New York, NY
• The Skin Shows for the Heart.
  Stern, A., Wilson, G., and Waterson, J, American Academy of Pediatrics Annual Meeting, New York, NY
• Variation of Human Genes as Revealed by Comparison of Human DNA Clones.
  Waterson, J., Wilson, G., Erikson, J., Schmickel, R, Pediatric Research: 614
• Direct Visualization of a Human Gene.
  Waterson, J., Wilson, G., Jackson, D., and Schmickel, R, J. Cell Biology 79: 142a
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