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)
Prenatal diagnosis of Fabry disease.
Prenat. Diagn., Aug;27(8):693-4 (2007)
Acute intermittent porphyria: vector optimization for gene therapy.
J Gene Med., Sep;9(9):806-11 (2007)
Human uroporphyrinogen III synthase: NMR-based mapping of the active site.
Proteins., May;71(2):855-73 (2008)
CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population.
Pharmacogenomics., Jul;8(7):721-30 (2007)
Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.
Am. J. Hum. Genet., Feb;82(2):495-500 (2008)
Enzyme replacement and enhancement therapies for lysosomal diseases.
J. Inherit. Metab. Dis., 27(3):385-410 (2004)
Ocular manifestations of Niemann-Pick disease type B.
Ophthalmology., Jul;111(7):1424-7 (2004)
Lipid abnormalities in children with types A and B Niemann Pick disease.
J. Pediatr., Jul;145(1):77-81 (2004)
Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval.
Expert Opin Biol Ther., Jul;4(7):1167-76 (2004)
Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.
Genet. Med., 6(5):415-20 (2004)
Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology.
Genet. Med., 6(5):431-8 (2004)
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Hum. Mutat., Mar;25(3):299-305 (2005)
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.
Radiology., Jan;238(1):339-45 (2006)
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.
Neurology., Jan;66(2):228-32 (2006)
Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.
J. Inherit. Metab. Dis., 28(6):1019-26 (2005)
Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
Am. J. Hum. Genet., Apr;78(4):645-58 (2006)
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.
Am. J. Hum. Genet., Jul;73(1):162-73 (2003)
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
Am. J. Hum. Genet., Apr;74(4):623-36 (2004)
Fabry disease in childhood.
J. Pediatr., May;144(5 Suppl):S20-6 (2004)
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
Ann. Intern. Med., Feb;138(4):338-46 (2003)
Growth restriction in children with type B Niemann-Pick disease.
J. Pediatr., Apr;142(4):424-8 (2003)
Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes.
The porphyrias: advances in diagnosis and treatment.
Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness.
Pharmacogenomics J., Aug;12(4):297-305 (2012)
Use of complementary and alternative medicine by patients with lysosomal storage diseases.
Genet. Med., Oct;11(10):722-7 (2009)
Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population.
J. Thromb. Haemost., May;8(5):1018-26 (2010)
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.
Mol. Med., 16(9-10):381-8 (2010)
Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients.
Mol. Genet. Metab., 101(2-3):130-3 (2010)
Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy.
Mol. Genet. Metab., Aug;85(4):255-9 (2005)
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
Mol. Genet. Metab., Mar;87(3):213-8 (2006)
Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease.
Clin. Genet., May;63(5):368-76 (2003)
Prolonged postpartum proteinuria after early preeclampsia.
Am. J. Kidney Dis., Jan;43(1):186-91 (2004)
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
J Comput Assist Tomogr., 28(2):158-68 (2004)
Genetypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish Populations
The American Journal of Human Genetics
Acute intermittent porphyria. Vector optimization for AAV-mediated gene therapy
Journal of General Internal Medicine
CYP 2C9, 2C19, and 2D6 allele frequencies in the Ashkenazi Jewish population
Type 1 Gaucher disease: Null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring
Human uroporphyrinogen III synthase: NMR-based mapping of the active site
Proteins: Structure, Functions, & Bioinformatics