ÌÇÐÄVlog

TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia; Movement Disorders Clinical Practice; (2022).

Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics; Clinical Pharmacology and Therapeutics; (2021).

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome; Journal of Medical Genetics; (2020).

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase; JIMD Reports; (2019).

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG); Genetics in Medicine; (2019).

Airway-related symptoms and surgeries in patients with mucopolysaccharidosis i; Annals of Otology, Rhinology and Laryngology; (2015).

The natural history of MPS I: global perspectives from the MPS I Registry; Genetics in Medicine; (2014).

Phenylketonuria (PKU); Encyclopedia of the Neurological Sciences; (2014).

Diagnosis and management of glycogen storage disease type I: A practice guideline of the American College of Medical Genetics and Genomics; Genetics in Medicine; (2014).

Recessive mutations in PCBD1 cause a new type of early-onset diabetes; Diabetes; (2014).

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm; Nature Genetics; (2012).

High rate of postoperative mortality in patients with mucopolysaccharidosis I: Findings from the MPS i Registry; Journal of Pediatric Surgery; (2012).

Diagnosis and treatment trends in mucopolysaccharidosis I: Findings from the MPS I registry; European Journal of Pediatrics; (2012).

Glycogen Storage Disease Type III diagnosis and management guidelines; Genetics in Medicine; (2010).

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome; JAMA; (2009).

Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry; Journal of Pediatrics; (2009).

Education format and resource preferences among registrants of a pediatric-focused CME website; Medical Teacher; (2009).

Newborn screening: Current status; Health Affairs; (2007).

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I; Molecular Genetics and Metabolism; (2007).

3-Methylglutaconic aciduria disorders: The clinical spectrum increases; Journal of Pediatric Hematology/Oncology; (2006).

Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings; Pediatric Dermatology; (2005).

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series; Journal of Inherited Metabolic Disease; (2005).

Erratum: Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations (Am J Med Genet 85: 5-8(1999)) (American Journal of Medicine Genetics (199) 85 (5-8)); American Journal of Medical Genetics; (2005).

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop; American Journal of Medical Genetics; (1999).

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1; Journal of Medical Genetics; (1998).

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a- carbinolamine dehydratase and transcriptional coactivator (DCoH); American Journal of Human Genetics; (1998).

Meth ylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome; American Journal of Medical Genetics; (1998).

Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature; American Journal of Medical Genetics; (1995).

SRVX, a sex reversing locus in Xp21.2→p22.11; Human Genetics; (1994).

Mild mandibulofacial dysostosis in a child with a deletion of 3p; American Journal of Medical Genetics; (1993).

Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes; Mammalian Genome; (1991).

Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus: A Cause of Postpartum Coma; New England Journal of Medicine; (1990).

Characterization of human centromeric regions using restriction enzyme banding, alphoid DNA and structural alterations; Molecular Biology and Medicine; (1990).

The macromolecular organization of human centromeric regions.; Progress in clinical and biological research; (1989).

Outcome of pectus excavatum in patients with Marfan syndrome and in the general population; The Journal of Pediatrics; (1989).

Surgical management of children and young adults with marfan syndrome and pectus excavatum; Journal of Pediatric Surgery; (1988).