Gerald Cox, MD, PhD
Assistant in Medicine, Division of Genetics and Genomics
Instructor, Harvard Medical School
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Gerald Cox, MD, PhD
Assistant in Medicine, Division of Genetics and Genomics
Instructor, Harvard Medical School
Medical Services
Languages
English
Education
Medical School
University of California, San Diego
1989
La Jolla
CA
Residency
Boston Children's Hospital
1991
Boston
MA
Fellowship
Boston Children's Hospital
1994
Boston
MA
Certifications
American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics)
Publications
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses. View Abstract
Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor. View Abstract
CAN008 prolongs overall survival in patients with newly diagnosed GBM characterized by high tumor mutational burden. View Abstract
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. View Abstract
Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1. View Abstract
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study. View Abstract
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. View Abstract
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. View Abstract
How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendations. View Abstract
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases. View Abstract
Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1. View Abstract
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. View Abstract
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. View Abstract
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. View Abstract
Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo". View Abstract
The art and science of choosing efficacy endpoints for rare disease clinical trials. View Abstract
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]. View Abstract
Efficacy and safety of sevelamer carbonate in hyperphosphatemic pediatric patients with chronic kidney disease. View Abstract
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. View Abstract
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. View Abstract
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I. View Abstract
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. View Abstract
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. View Abstract
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. View Abstract
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. View Abstract
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. View Abstract
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. View Abstract
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate. View Abstract
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). View Abstract
Redefining the MED13L syndrome. View Abstract
Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints. View Abstract
Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy. View Abstract
Monoallelic expression of the human FOXP2 speech gene. View Abstract
Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy. View Abstract
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. View Abstract
Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients. View Abstract
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. View Abstract
Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry. View Abstract
CRB1: one gene, many phenotypes. View Abstract
Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. View Abstract
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). View Abstract
High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. View Abstract
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. View Abstract
Source document verification in the Mucopolysaccharidosis Type I Registry. View Abstract
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. View Abstract
Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry. View Abstract
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. View Abstract
The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. View Abstract
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. View Abstract
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). View Abstract
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. View Abstract
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. View Abstract
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. View Abstract
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. View Abstract
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. View Abstract
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. View Abstract
Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. View Abstract
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? View Abstract
Sibling phenotype concordance in classical infantile Pompe disease. View Abstract
Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. View Abstract
Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy. View Abstract
Incidence, causes, and outcomes of dilated cardiomyopathy in children. View Abstract
Factors associated with establishing a causal diagnosis for children with cardiomyopathy. View Abstract
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. View Abstract
A physical performance measure for individuals with mucopolysaccharidosis type I. View Abstract
Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis. View Abstract
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. View Abstract
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. View Abstract
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. View Abstract
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). View Abstract
Physical performance testing in mucopolysaccharidosis I: a pilot study. View Abstract
Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. View Abstract
Retinal function in carriers of Bardet-Biedl syndrome. View Abstract
The incidence of pediatric cardiomyopathy in two regions of the United States. View Abstract
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. View Abstract
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). View Abstract
Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene. View Abstract
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. View Abstract
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. View Abstract
Intracytoplasmic sperm injection may increase the risk of imprinting defects. View Abstract
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. View Abstract
Discordant phenotype in monozygotic twins with Fryns syndrome. View Abstract
Design and implementation of the North American Pediatric Cardiomyopathy Registry. View Abstract
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. View Abstract
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. View Abstract
Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. View Abstract
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. View Abstract
Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase. View Abstract
Mutation characterization and genotype-phenotype correlation in Barth syndrome. View Abstract
Dystrophies and heart disease. View Abstract
Clinical approach to genetic cardiomyopathy in children. View Abstract
A muscle-specific DNase I-like gene in human Xq28. View Abstract