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Gerald F. Cox
Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame
Hardie D, Kilimann MW.
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in
the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase
kinase deficiency. Am J Hum Genet. 2005 Jun;76(6):1034-49. Epub 2005 May 2.
Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. Clinical presentation of 13 patients
with subtelomeric rearrangements and a review of the literature. Am J Med Genet A.
2004 Aug 1;128(4):352-63. Review.
Dumas HM, Fragala MA, Haley SM, Skrinar AM, Wraith JE, Cox GF. Physical
performance testing in mucopolysaccharidosis I: a pilot study. Pediatr Rehabil. 2004
Apr-Jun;7(2):125-31.
Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM,
Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox
GF. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, doubleblinded, placebo-controlled, multinational study of recombinant human alpha-Liduronidase (laronidase). J Pediatr. 2004 May;144(5):581-8.
Terlato NJ, Cox GF. Can mucopolysaccharidosis type I disease severity be predicted
based on a patient's genotype? A comprehensive review of the literature. Genet Med.
2003 Jul-Aug;5(4):286-94.
Cox GF, Hansen RM, Quinn N, Fulton AB. Retinal function in carriers of Bardet-Biedl
syndrome.
Arch Ophthalmol. 2003 Jun;121(6):804-10.
Lipshultz SE, Sleeper LA, Towbin JA, Lowe AM, Orav EJ, Cox GF, Lurie PR, McCoy KL,
McDonald MA, Messere JE, Colan SD. The incidence of pediatric cardiomyopathy in two
regions of the United States. N Engl J Med. 2003 Apr 24;348(17):1647-55.
Picker JD, Puga AC, Levy HL, Marsden D, Shih VE, Degirolami U, Ligon KL,
Cederbaum SD, Kern RM, Cox GF. Arginase deficiency with lethal neonatal expression:
evidence for the glutamine hypothesis of cerebral edema. J Pediatr. 2003
Mar;142(3):349-52.
Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox
GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R,
Hennekam RC, Luleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC.
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome
locus (BBS1). Am J Hum Genet. 2003 Feb;72(2):429-37. Epub 2003 Jan 10.
Huang T, Lin AE, Cox GF, Golden WL, Feldman GL, Ute M, Schrander-Stumpel C,
Kamisago M, Vermeulen SJ. Cardiac phenotypes in chromosome 4q- syndrome with
and without a deletion of the dHAND gene. Genet Med. 2002 Nov-Dec;4(6):464-7.
Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM,
Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS,
Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Identification of
the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human
obesity syndrome. Nat Genet. 2002 Aug;31(4):435-8. Epub 2002 Jul 15.
Picker JD, Cox GF, Fan YS, Fowler DJ, Weremowicz S, Morton CC, Lee C. Multicolor
karyotypic interpretation of a heterochromatin-associated marker chromosome in a
dysmorphic girl with developmental delay. Am J Med Genet. 2002 Jul 15;110(4):393-6.
Cox GF, Burger J, Lip V, Mau UA, Sperling K, Wu BL, Horsthemke B. Intracytoplasmic
sperm injection may increase the risk of imprinting defects. Am J Hum Genet. 2002
Jul;71(1):162-4. Epub 2002 May 08.
Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C,
Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW,
Steinberg SJ. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1)
and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis
disorders. Am J Hum Genet. 2002 Jun;70(6):1520-31. Epub 2002 Apr 29.
Vargas JE, Cox GF, Korf BR. Discordant phenotype in monozygotic twins with Fryns
syndrome. Am J Med Genet. 2000 Sep 4;94(1):42-5.
Bonnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC,
Eyre DR, Darras BT, Kunkel LM. A mutation in the alpha 3 chain of type IX collagen
causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc Natl
Acad Sci U S A. 2000 Feb 1;97(3):1212-7.
Grenier MA, Osganian SK, Cox GF, Towbin JA, Colan SD, Lurie PR, Sleeper LA, Orav
EJ, Lipshultz SE. Design and implementation of the North American Pediatric
Cardiomyopathy Registry. Am Heart J. 2000 Feb;139(2 Pt 3):S86-95.
Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB,
Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich
CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer
M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Splicing mutations of 54-bp exons
in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping
Marshall/Stickler phenotypes. Am J Hum Genet. 1999 Oct;65(4):974-83.
Appleyard NJ, Cox GF, Skrbek L, Sommerfeld PK, Vinen WF. Magnetoplasma
resonances and nonlinear mode coupling in pools of ions trapped below the surface of
superfluid helium. Phys Rev B Condens Matter. 1995 Mar 1;51(9):5892-5898.
Perez-Atayde AR, Fox V, Teitelbaum JE, Anthony DA, Fadic R, Kalsner L, Rivkin M,
Johns DR, Cox GF. Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis
by rectal biopsy. Am J Surg Pathol. 1998 Sep;22(9):1141-7.
Cox GF, Souri M, Aoyama T, Rockenmacher S, Varvogli L, Rohr F, Hashimoto T,
Korson MS. Reversal of severe hypertrophic cardiomyopathy and excellent
neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase
deficiency. J Pediatr. 1998 Aug;133(2):247-53.
Souri M, Aoyama T, Cox GF, Hashimoto T. Catalytic and FAD-binding residues of
mitochondrial very long chain acyl-coenzyme A dehydrogenase. J Biol Chem. 1998 Feb
13;273(7):4227-31.
Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R.
Mutation characterization and genotype-phenotype correlation in Barth syndrome.Am J
Hum Genet. 1997 Nov;61(5):1053-8.
Cox GF, Kunkel LM. Dystrophies and heart disease. Curr Opin Cardiol. 1997
May;12(3):329-43. Review.
Schwartz ML, Cox GF, Lin AE, Korson MS, Perez-Atayde A, Lacro RV, Lipshultz SE.
Clinical approach to genetic cardiomyopathy in children. Circulation. 1996 Oct
15;94(8):2021-38. Review.
Parrish JE, Ciccodicola A, Wehhert M, Cox GF, Chen E, Nelson DL. A muscle-specific
DNase I-like gene in human Xq28. Hum Mol Genet. 1995 Sep;4(9):1557-64.
Irvine GH, Dyer PV, Cox GF. A simple technique to improve access to the adult palate.
Br J Oral Maxillofac Surg. 1993 Apr;31(2):127.
Hatton JD, Cox GF, Miller AL, Nichol JA, Ellisman MH. Identification of polypeptides
associated with sarcolemmal vesicles enriched in orthogonal arrays. Biochim Biophys
Acta. 1987 Nov 13;904(2):373-80.
Maher PA, Cox GF, Singer SJ. Zeugmatin: a new high molecular weight protein
associated with Z lines in adult and early embryonic striated muscle. J Cell Biol. 1985
Nov;101(5 Pt 1):1871-83.
Cox GF, Levy ML, Wolf JE Jr. Is eczema herpeticum associated with the use of hot
tubs?
Pediatr Dermatol. 1985 Jul;2(4):322-3.