Clinical Instructor in Pediatrics, Boston Children's Hospital
Medical Genetics
Dr. Gerald F. Cox, MD
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Gerald practices Medical Genetics. He studied medicine at University of California San Diego School of Medicine. University of California San Diego School of Medicine is ranked 17/19 in Research/PrimaryCare. Doctor Gerald F. Cox, MD is a published doctor. He published 58 publications, including: 'Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy.'
Publications
- 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 multi...
- Monoallelic expression of the human FOXP2 speech gene.
- Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.
- Optic Atrophy and a Leigh-Like Syndrome Due to Mutations in the C12orf65 Gene: Report of a Novel Mutation and Review of the Literature.
- SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
- Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry.
- Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.
- Source document verification in the Mucopolysaccharidosis Type I Registry.
- Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.
- Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
- The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years.
- Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).
- A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.
- Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.
- A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
- Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
- Sibling phenotype concordance in classical infantile Pompe disease.
- Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry.
- A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years.
- Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy.
- Incidence, causes, and outcomes of dilated cardiomyopathy in children.
- Factors associated with establishing a causal diagnosis for children with cardiomyopathy.
- Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis.
- Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.
- Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphoryla...
- Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.
- Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase ...
- Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.
- Retinal function in carriers of Bardet-Biedl syndrome.
- The incidence of pediatric cardiomyopathy in two regions of the United States.
- Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
- Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
- Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene.
- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
- Intracytoplasmic sperm injection may increase the risk of imprinting defects.
- Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
- CRB1: one gene, many phenotypes.
- Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase.
- Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy.
- Discordant phenotype in monozygotic twins with Fryns syndrome.
- Dystrophies and heart disease.
- A muscle-specific DNase I-like gene in human Xq28.
- A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.
- Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
- 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
- Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
- Clinical approach to genetic cardiomyopathy in children.
- Mutation characterization and genotype-phenotype correlation in Barth syndrome.
- Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
- Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
- Design and implementation of the North American Pediatric Cardiomyopathy Registry.
- Physical performance testing in mucopolysaccharidosis I: a pilot study.
- A physical performance measure for individuals with mucopolysaccharidosis type I.
- Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry.
- Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.
- A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
- Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry.
Schools
University of California At San Diego
Children39s Hospital Boston
Howard Hughes Med Institute
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Clinical Molecular Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Boston Children's Hospital -
University of California San Diego School of Medicine
Hospital
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Boston Children's Hospital
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