Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU.
Pharmacogenomics., Feb;13(3):297-307 (2012)
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
Hum. Mutat., Nov;31(11):1240-50 (2010)
Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells.
Cell Reprogram., Apr;12(2):117-25 (2010)
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
Am. J. Hum. Genet., Aug;87(2):289-96 (2010)
Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry.
Anal. Chem., Dec;82(24):10186-93 (2010)
Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.
J. Inherit. Metab. Dis., Jun;34(3):789-93 (2011)
Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.
BMC Med. Genet., 12:63 (2011)
Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" Î±-galactosidase a large deletion.
Mol. Genet. Metab., Nov;104(3):314-8 (2011)
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen.
J. Chromatogr. B Analyt. Technol. Biomed. Life Sci., Aug;879(24):2389-96 (2011)
CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing.
Pharmacogenomics., Aug;10(8):1243-55 (2009)
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Hum. Mol. Genet., Feb;19(4):584-96 (2010)
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.
Blood., Feb;115(5):1062-9 (2010)
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.
Genet. Med., Feb;12(2):85-92 (2010)
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.
Arch Dermatol., May;146(5):529-33 (2010)
Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups.
Pharmacogenomics., Jun;11(6):781-91 (2010)
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Hum. Genomics., Mar;2(5):297-309 (2006)
Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis?
Nat Clin Pract Nephrol., Feb;2(2):72-3 (2006)
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.
J. Pediatr., Oct;149(4):554-9 (2006)
Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy.
Nephrol. Ther., Jan;2 Suppl 2:S172-85 (2006)
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.
Hum. Mutat., Sep;28(9):866-73 (2007)