Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Gerald Frank Cox, M.D.,Ph.D.


The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. M01RR002172 (MANDELL, JAMES WILLIAM) Jan 1, 1983 - Mar 31, 2009
    General Clinical Research Center
    Role: Co-Principal Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Peterschmitt MJ, Foster MC, Ji AJ, Zajdel MB, Cox GF. Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1. Mol Genet Metab. 2023 Mar; 138(3):107527. PMID: 36739645.
    Citations:    Fields:    
  2. Chapman KA, MacEachern D, Cox GF, Waller M, Fogarty J, Granger S, Stepanians M, Waisbren S. Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study. Mol Genet Metab Rep. 2023 Mar; 34:100953. PMID: 36659999; PMCID: PMC9842695.
  3. Hastings C, Liu B, Hurst B, Cox GF, Hrynkow S. Intravenous 2-hydroxypropyl-ß-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial. Mol Genet Metab. 2022 Dec; 137(4):309-319. PMID: 36279795.
    Citations:    Fields:    Translation:HumansCTClinical Trials
  4. Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133. PMID: 33098347.
    Citations: 3     Fields:    Translation:Humans
  5. Ruskin JN, Ortemann-Renon C, Msihid J, Ross L, Puga AC, Peterschmitt MJ, Cox GF, Maison-Blanche P. How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendations. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):211-218. PMID: 33012655.
    Citations:    Fields:    Translation:Humans
  6. Lyn N, Pulikottil-Jacob R, Rochmann C, Krupnick R, Gwaltney C, Stephens N, Kissell J, Cox GF, Fischer T, Hamed A. Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases. Orphanet J Rare Dis. 2020 04 15; 15(1):92. PMID: 32295606; PMCID: PMC7160997.
    Citations: 1     Fields:    Translation:Humans
  7. Vu L, Cox GF, Ibrahim J, Peterschmitt MJ, Ross L, Thibault N, Turpault S. Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1. Mol Genet Metab Rep. 2020 Mar; 22:100552. PMID: 31993325; PMCID: PMC6976987.
  8. Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. Blood Cells Mol Dis. 2019 07; 77:101-102. PMID: 31029022.
    Citations: 1     Fields:    Translation:Humans
  9. Cox GF, Clarke LA, Giugliani R, McGovern MM. Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. JIMD Rep. 2018; 41:119-129. PMID: 29995201; PMCID: PMC6122055.
    Citations: 3     
  10. Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. Blood Cells Mol Dis. 2018 07; 71:71-74. PMID: 29680197.
    Citations: 8     Fields:    Translation:Humans
  11. Wilson CJ, Fennell T, Bothmer A, Maeder ML, Reyon D, Cotta-Ramusino C, Fernandez CA, Marco E, Barrera LA, Jayaram H, Albright CF, Cox GF, Church GM, Myer VE. Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo". Nat Methods. 2018 04; 15(4):236-237. PMID: 29600989.
    Citations: 15     Fields:    Translation:Cells
  12. Cox GF. The art and science of choosing efficacy endpoints for rare disease clinical trials. Am J Med Genet A. 2018 Apr; 176(4):759-772. PMID: 29423972.
    Citations: 8     Fields:    Translation:Humans
  13. Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213]. Mol Genet Metab. 2018 12; 125(4):360. PMID: 29129654.
    Citations: 1     Fields:    
  14. Fathallah-Shaykh S, Drozdz D, Flynn J, Jenkins R, Wesseling-Perry K, Swartz SJ, Wong C, Accomando B, Cox GF, Warady BA. Efficacy and safety of sevelamer carbonate in hyperphosphatemic pediatric patients with chronic kidney disease. Pediatr Nephrol. 2018 02; 33(2):325-333. PMID: 28900759.
    Citations: 3     Fields:    Translation:HumansCTClinical Trials
  15. Rusconi P, Wilkinson JD, Sleeper LA, Lu M, Cox GF, Towbin JA, Colan SD, Webber SA, Canter CE, Ware SM, Hsu DT, Chung WK, Jefferies JL, Cordero C, Lipshultz SE. Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group. Circ Heart Fail. 2017 Feb; 10(2). PMID: 28193717.
    Citations: 8     Fields:    Translation:Humans
  16. Gradstein L, Hansen RM, Cox GF, Altschwager P, Fulton AB. Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. Doc Ophthalmol. 2017 04; 134(2):135-140. PMID: 28144890.
    Citations: 2     Fields:    Translation:Humans
  17. Giugliani R, Vieira TA, Carvalho CG, Muñoz-Rojas MV, Semyachkina AN, Voinova VY, Richards S, Cox GF, Xue Y. Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I. Mol Genet Metab Rep. 2017 Mar; 10:61-66. PMID: 28119821; PMCID: PMC5238455.
    Citations: 7     
  18. Peterschmitt MJ, Cox GF, Ibrahim J, MacDougall J, Underhill LH, Patel P, Gaemers SJM. A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration. Blood Cells Mol Dis. 2018 02; 68:185-191. PMID: 28126395.
    Citations: 18     Fields:    Translation:HumansCTClinical Trials
  19. El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Mol Genet Metab. 2017 Jan - Feb; 120(1-2):47-56. PMID: 28040394.
    Citations: 16     Fields:    Translation:HumansCTClinical Trials
  20. Thurberg BL, Wasserstein MP, Jones SA, Schiano TD, Cox GF, Puga AC. Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. Am J Surg Pathol. 2016 09; 40(9):1232-42. PMID: 27340749; PMCID: PMC4987207.
    Citations: 7     Fields:    Translation:HumansCTClinical Trials
  21. Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. Mol Genet Metab. 2016 07; 118(3):206-213. PMID: 27198631.
    Citations: 24     Fields:    Translation:Humans
  22. Xue Y, Richards SM, Mahmood A, Cox GF. Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studies. Mol Genet Metab. 2016 Apr; 117(4):419-26. PMID: 26920513.
    Citations: 11     Fields:    Translation:Humans
  23. Wasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL, Culm-Merdek K, Shamiyeh E, Inguilizian H, Cox GF, Puga AC. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):88-97. PMID: 26049896; PMCID: PMC4561589.
    Citations: 29     Fields:    Translation:Humans
  24. Chuang WL, Pacheco J, Cooper S, Kingsbury JS, Hinds J, Wolf P, Oliva P, Keutzer J, Cox GF, Zhang K. Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate. Mol Genet Metab Rep. 2015 Jun; 3:55-7. PMID: 26937397; PMCID: PMC4750609.
    Citations: 1     
  25. McGovern MM, Wasserstein MP, Kirmse B, Duvall WL, Schiano T, Thurberg BL, Richards S, Cox GF. Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). Genet Med. 2016 Jan; 18(1):34-40. PMID: 25834946.
    Citations: 20     Fields:    Translation:HumansCTClinical Trials
  26. Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Redefining the MED13L syndrome. Eur J Hum Genet. 2015 Oct; 23(10):1308-17. PMID: 25758992; PMCID: PMC4592099.
    Citations: 28     Fields:    Translation:Humans
  27. Kakkis ED, O'Donovan M, Cox G, Hayes M, Goodsaid F, Tandon PK, Furlong P, Boynton S, Bozic M, Orfali M, Thornton M. Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints. Orphanet J Rare Dis. 2015 Feb 10; 10:16. PMID: 25757705.
    Citations: 15     Fields:    Translation:Humans
  28. Castorina M, Antuzzi D, Richards SM, Cox GF, Xue Y. Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy. Clin Exp Obstet Gynecol. 2015; 42(1):108-13. PMID: 25864295.
    Citations: 9     Fields:    Translation:HumansCTClinical Trials
  29. Adegbola AA, Cox GF, Bradshaw EM, Hafler DA, Gimelbrant A, Chess A. Monoallelic expression of the human FOXP2 speech gene. Proc Natl Acad Sci U S A. 2015 Jun 02; 112(22):6848-54. PMID: 25422445; PMCID: PMC4460484.
    Citations: 14     Fields:    Translation:Humans
  30. Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy. Hum Mutat. 2014 Jul; 35(7):868-79. PMID: 24664454; PMCID: PMC4112555.
    Citations: 31     Fields:    Translation:Humans
  31. Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I. Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. J Neuroophthalmol. 2014 Mar; 34(1):39-43. PMID: 24284555.
    Citations: 12     Fields:    Translation:Humans
  32. Chuang WL, Pacheco J, Cooper S, McGovern MM, Cox GF, Keutzer J, Zhang XK. Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients. Mol Genet Metab. 2014 Feb; 111(2):209-11. PMID: 24418695.
    Citations: 29     Fields:    Translation:HumansCells
  33. An Y, Amr SS, Torres A, Weissman L, Raffalli P, Cox G, Sheng X, Lip V, Bi W, Patel A, Stankiewicz P, Wu BL, Shen Y. SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec; 162B(8):832-40. PMID: 24019301.
    Citations: 8     Fields:    Translation:HumansCells
  34. Lipshultz SE, Orav EJ, Wilkinson JD, Towbin JA, Messere JE, Lowe AM, Sleeper LA, Cox GF, Hsu DT, Canter CE, Hunter JA, Colan SD. Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry. Lancet. 2013 Dec 07; 382(9908):1889-97. PMID: 24011547; PMCID: PMC4007309.
    Citations: 42     Fields:    Translation:Humans
  35. Ehrenberg M, Pierce EA, Cox GF, Fulton AB. CRB1: one gene, many phenotypes. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):397-405. PMID: 24138049.
    Citations: 17     Fields:    Translation:Humans
  36. Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF, Towbin JA, Connuck DM, Messere JE, Lipshultz SE. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J. 2012 Sep; 164(3):442-8. PMID: 22980313.
    Citations: 38     Fields:    Translation:Humans
  37. Thurberg BL, Wasserstein MP, Schiano T, O'Brien F, Richards S, Cox GF, McGovern MM. Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). Am J Surg Pathol. 2012 Aug; 36(8):1234-46. PMID: 22613999.
    Citations: 19     Fields:    Translation:HumansCTClinical Trials
  38. Arn P, Whitley C, Wraith JE, Webb HW, Underhill L, Rangachari L, Cox GF. High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. J Pediatr Surg. 2012 Mar; 47(3):477-84. PMID: 22424341.
    Citations: 12     Fields:    Translation:Humans
  39. D'Aco K, Underhill L, Rangachari L, Arn P, Cox GF, Giugliani R, Okuyama T, Wijburg F, Kaplan P. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr. 2012 Jun; 171(6):911-9. PMID: 22234477.
    Citations: 35     Fields:    Translation:Humans
  40. Verhulst K, Artiles-Carloni L, Beck M, Clarke JT, Neto JC, Cox GF, Fernhoff PM, Guffon N, Kong Y, Martins AM, Tylki-Szymanska A, Whitley CB, Wijburg FA, Wraith EJ, Koepper CM. Source document verification in the Mucopolysaccharidosis Type I Registry. Pharmacoepidemiol Drug Saf. 2012 Jul; 21(7):749-752. PMID: 22170853.
    Citations: 2     Fields:    
  41. Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M. Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. PLoS One. 2011; 6(8):e22861. PMID: 21857958.
    Citations: 24     Fields:    Translation:HumansCells
  42. Alvarez JA, Orav EJ, Wilkinson JD, Fleming LE, Lee DJ, Sleeper LA, Rusconi PG, Colan SD, Hsu DT, Canter CE, Webber SA, Cox GF, Jefferies JL, Towbin JA, Lipshultz SE. Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry. Circulation. 2011 Aug 16; 124(7):814-23. PMID: 21788591; PMCID: PMC3199969.
    Citations: 44     Fields:    Translation:Humans
  43. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct; 31(10):1142-54. PMID: 20672375.
    Citations: 43     Fields:    Translation:Humans
  44. Wilkinson JD, Landy DC, Colan SD, Towbin JA, Sleeper LA, Orav EJ, Cox GF, Canter CE, Hsu DT, Webber SA, Lipshultz SE. The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin. 2010 Oct; 6(4):401-13, vii. PMID: 20869642.
    Citations: 51     Fields:    Translation:Humans
  45. Thomas JA, Beck M, Clarke JT, Cox GF. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis. 2010 Aug; 33(4):421-7. PMID: 20532982.
    Citations: 27     Fields:    Translation:Humans
  46. Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T. Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Mol Genet Metab. 2010 Jan; 99(1):18-25. PMID: 19773189.
    Citations: 53     Fields:    Translation:HumansCTClinical Trials
  47. Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Sidman M, Kakkis ED, Cox GF. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. 2009 Jan; 123(1):229-40. PMID: 19117887.
    Citations: 121     Fields:    Translation:Humans
  48. Giugliani R, Rojas VM, Martins AM, Valadares ER, Clarke JT, Góes JE, Kakkis ED, Worden MA, Sidman M, Cox GF. A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab. 2009 Jan; 96(1):13-9. PMID: 19038563.
    Citations: 20     Fields:    Translation:Humans
  49. Adegbola AA, Gonzales ML, Chess A, LaSalle JM, Cox GF. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum Genet. 2009 Jan; 124(6):615-23. PMID: 18989701.
    Citations: 14     Fields:    Translation:HumansAnimalsCells
  50. Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75. PMID: 18812404; PMCID: PMC2680125.
    Citations: 18     Fields:    Translation:HumansAnimals
  51. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. PMID: 18805830; PMCID: PMC4090085.
    Citations: 143     Fields:    Translation:HumansCells
  52. McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics. 2008 Aug; 122(2):e341-9. PMID: 18625664; PMCID: PMC2692309.
    Citations: 51     Fields:    Translation:Humans
  53. Connuck DM, Sleeper LA, Colan SD, Cox GF, Towbin JA, Lowe AM, Wilkinson JD, Orav EJ, Cuniberti L, Salbert BA, Lipshultz SE. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J. 2008 Jun; 155(6):998-1005. PMID: 18513510; PMCID: PMC2729548.
    Citations: 72     Fields:    Translation:Humans
  54. Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, Robson CD, Kimonis VE. Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? Am J Med Genet A. 2007 Dec 15; 143A(24):2973-80. PMID: 18000896.
    Citations: 10     Fields:    Translation:Humans
  55. Smith WE, Sullivan-Saarela JA, Li JS, Cox GF, Corzo D, Chen YT, Kishnani PS. Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A. 2007 Nov 01; 143A(21):2493-501. PMID: 17853454.
    Citations: 5     Fields:    Translation:Humans
  56. Colan SD, Lipshultz SE, Lowe AM, Sleeper LA, Messere J, Cox GF, Lurie PR, Orav EJ, Towbin JA. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation. 2007 Feb 13; 115(6):773-81. PMID: 17261650.
    Citations: 102     Fields:    Translation:Humans
  57. Cox GF. Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy. Prog Pediatr Cardiol. 2007; 24(1):15-25. PMID: 19030119.
    Citations: 24     
  58. Towbin JA, Lowe AM, Colan SD, Sleeper LA, Orav EJ, Clunie S, Messere J, Cox GF, Lurie PR, Hsu D, Canter C, Wilkinson JD, Lipshultz SE. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA. 2006 Oct 18; 296(15):1867-76. PMID: 17047217.
    Citations: 298     Fields:    Translation:Humans
  59. Cox GF, Sleeper LA, Lowe AM, Towbin JA, Colan SD, Orav EJ, Lurie PR, Messere JE, Wilkinson JD, Lipshultz SE. Factors associated with establishing a causal diagnosis for children with cardiomyopathy. Pediatrics. 2006 Oct; 118(4):1519-31. PMID: 17015543.
    Citations: 38     Fields:    Translation:Humans
  60. Sifuentes M, Doroshow R, Hoft R, Mason G, Walot I, Diament M, Okazaki S, Huff K, Cox GF, Swiedler SJ, Kakkis ED. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab. 2007 Feb; 90(2):171-80. PMID: 17011223.
    Citations: 93     Fields:    Translation:HumansCells
  61. Katzman PJ, Smoot LB, Cox GF. Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis. Pediatr Dev Pathol. 2006 Jul-Aug; 9(4):266-79. PMID: 16944986.
    Citations:    Fields:    Translation:HumansCells
  62. Haley SM, Fragala Pinkham MA, Dumas HM, Ni P, Skrinar AM, Cox GF. A physical performance measure for individuals with mucopolysaccharidosis type I. Dev Med Child Neurol. 2006 Jul; 48(7):576-81. PMID: 16780627.
    Citations: 4     Fields:    Translation:Humans
  63. Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G, Vanier M, Bembi B, Giugliani R, Mengel E, Cox GF, McGovern MM. Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology. 2006 Jan; 238(1):339-45. PMID: 16304086.
    Citations: 24     Fields:    Translation:Humans
  64. Burwinkel B, Scott JW, Bührer 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. PMID: 15877279; PMCID: PMC1196441.
    Citations: 51     Fields:    Translation:HumansCells
  65. 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 01; 128A(4):352-63. PMID: 15264280.
    Citations: 9     Fields:    Translation:HumansCells
  66. 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, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr. 2004 May; 144(5):581-8. PMID: 15126990.
    Citations: 179     Fields:    Translation:HumansCTClinical Trials
  67. 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. PMID: 15204583.
    Citations: 7     Fields:    Translation:Humans
  68. 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. PMID: 12865757.
    Citations: 49     Fields:    Translation:Humans
  69. Cox GF, Hansen RM, Quinn N, Fulton AB. Retinal function in carriers of Bardet-Biedl syndrome. Arch Ophthalmol. 2003 Jun; 121(6):804-10. PMID: 12796250.
    Citations: 9     Fields:    Translation:HumansCells
  70. 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. PMID: 12711739.
    Citations: 191     Fields:    Translation:Humans
  71. 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. PMID: 12640389.
    Citations: 20     Fields:    Translation:Humans
  72. 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, Lüleci 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. PMID: 12524598; PMCID: PMC379234.
    Citations: 29     Fields:    Translation:HumansAnimalsCells
  73. 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. PMID: 12509719.
    Citations: 10     Fields:    Translation:HumansCells
  74. Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci 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. PMID: 12118255.
    Citations: 112     Fields:    Translation:Humans
  75. Wu BL, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med. 2002 Jul-Aug; 4(4):279-88. PMID: 12172394.
    Citations: 23     Fields:    Translation:Humans
  76. Cox GF, Bürger 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. PMID: 12016591; PMCID: PMC384973.
    Citations: 140     Fields:    Translation:HumansAnimalsCells
  77. 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. PMID: 11992258; PMCID: PMC419992.
    Citations: 20     Fields:    Translation:HumansCells
  78. Vargas JE, Cox GF, Korf BR. Discordant phenotype in monozygotic twins with Fryns syndrome. Am J Med Genet. 2000 Sep 04; 94(1):42-5. PMID: 10982481.
    Citations: 3     Fields:    Translation:Humans
  79. Bönnemann 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 01; 97(3):1212-7. PMID: 10655510; PMCID: PMC15572.
    Citations: 26     Fields:    Translation:HumansCells
  80. 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. PMID: 10650321.
    Citations: 43     Fields:    Translation:Humans
  81. Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen 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. PMID: 10486316; PMCID: PMC1288268.
    Citations: 68     Fields:    Translation:HumansCells
  82. 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. PMID: 9737248.
    Citations: 12     Fields:    Translation:Humans
  83. 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. PMID: 9709714.
    Citations: 15     Fields:    Translation:Humans
  84. 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. PMID: 9461620.
    Citations: 6     Fields:    Translation:HumansCells
  85. 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. PMID: 9345098; PMCID: PMC1716030.
    Citations: 44     Fields:    Translation:HumansCells
  86. Cox GF, Kunkel LM. Dystrophies and heart disease. Curr Opin Cardiol. 1997 May; 12(3):329-43. PMID: 9243091.
    Citations: 61     Fields:    Translation:Humans
  87. 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. PMID: 8873681.
    Citations: 17     Fields:    Translation:Humans
  88. 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. PMID: 8541839.
    Citations: 14     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.