| Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU. Scott S.A., Patel M., Martis S., Lubitz S.A., van der Zee S., Yoo C., Edelmann L., Halperin J.L., Desnick R.J.
Pharmacogenomics 13:297-307(2012) · Mapped (20) |
| Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide. Haghighi A., Masri A., Kornreich R., Desnick R.J.
Mol. Genet. Metab. 104:700-702(2011) · Mapped (8) |
| Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. Cervantes-Barragan D.E., Villarroel C.E., Medrano-Hernandez A., Duran-McKinster C., Bosch-Canto V., Del-Castillo V., Nazarenko I., Yang A., Desnick R.J.
J. Med. Genet. 48:716-720(2011) · Mapped (1) |
| Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin. Franco H.L., Casasnovas J.J., Leon R.G., Friesel R., Ge Y., Desnick R.J., Cadilla C.L.
Int. J. Biochem. Cell Biol. 43:1523-1531(2011) · Mapped (9) |
| Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. Haghighi A., Rezazadeh J., Shadmehri A.A., Haghighi A., Kornreich R., Desnick R.J.
J. Hum. Genet. 56:682-684(2011) · Mapped (8) |
| Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. Bishop D.F., Clavero S., Mohandas N., Desnick R.J.
Mol. Med. 17:748-756(2011) · Mapped (6) |
| Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness. Scott S.A., Martis S., Peter I., Kasai Y., Kornreich R., Desnick R.J.
Pharmacogenomics J. 12:297-305(2012) · Mapped (3) |
| Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel alpha-galactosidase A (GLA) deletions causing Fabry disease. Dobrovolny R., Nazarenko I., Kim J., Doheny D., Desnick R.J.
Hum. Mutat. 32:688-695(2011) · Mapped (5) |
| Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. Marshall J., Ashe K.M., Bangari D., McEachern K., Chuang W.L., Pacheco J., Copeland D.P., Desnick R.J., Shayman J.A., Scheule R.K. et al.
PLoS ONE 5:e15033-e15033(2010) · Mapped (8) |
| CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Wickliffe J.K., Abdel-Rahman S.Z., Lee C., Kormos-Hallberg C., Sood G., Rondelli C.M., Grady J.J., Desnick R.J., Anderson K.E.
Mol. Med. 17:241-247(2011) · Mapped (24) |
| Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Tukel T., Sosic D., Al-Gazali L.I., Erazo M., Casasnovas J., Franco H.L., Richardson J.A., Olson E.N., Cadilla C.L., Desnick R.J.
Am. J. Hum. Genet. 87:289-296(2010) · UniProtKB (1) · Mapped (2) |
| Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups. Scott S.A., Khasawneh R., Peter I., Kornreich R., Desnick R.J.
Pharmacogenomics 11:781-791(2010) · Mapped (13) |
| Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Clavero S., Bishop D.F., Giger U., Haskins M.E., Desnick R.J.
Mol. Med. 16:381-388(2010) · UniProtKB (3) |
| Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Cantatore-Francis J.L., Cohen-Pfeffer J., Balwani M., Kahn P., Lazarus H.M., Desnick R.J., Schaffer J.V.
Arch Dermatol 146:529-533(2010) · Mapped (8) |
| Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Bishop D.F., Schneider-Yin X., Clavero S., Yoo H.W., Minder E.I., Desnick R.J.
Blood 115:1062-1069(2010) · Mapped (3) |
| Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Clavero S., Bishop D.F., Haskins M.E., Giger U., Kauppinen R., Desnick R.J.
Hum. Mol. Genet. 19:584-596(2010) · UniProtKB (3) |
| CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing. Scott S.A., Jaremko M., Lubitz S.A., Kornreich R., Halperin J.L., Desnick R.J.
Pharmacogenomics 10:1243-1255(2009) · Mapped (7) |
| Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hwu W.L., Chien Y.H., Lee N.C., Chiang S.C., Dobrovolny R., Huang A.C., Yeh H.Y., Chao M.C., Lin S.J., Kitagawa T. et al.
Hum. Mutat. 30:1397-1405(2009) · UniProtKB (1) · Mapped (4) |
| Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Scott S.A., Edelmann L., Kornreich R., Desnick R.J.
Am. J. Hum. Genet. 82:495-500(2008) · Mapped (9) |
| CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population. Scott S.A., Edelmann L., Kornreich R., Erazo M., Desnick R.J.
Pharmacogenomics 8:721-730(2007) · Mapped (28) |
| Human uroporphyrinogen III synthase: NMR-based mapping of the active site. Cunha L., Kuti M., Bishop D.F., Mezei M., Zeng L., Zhou M.M., Desnick R.J.
Proteins 71:855-873(2008) · Mapped (3) |
| Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Grace M.E., Balwani M., Nazarenko I., Prakash-Cheng A., Desnick R.J.
Hum. Mutat. 28:866-873(2007) · UniProtKB (1) · Mapped (2) |
| Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Shabbeer J., Yasuda M., Benson S.D., Desnick R.J.
Hum. Genomics 2:297-309(2006) · Mapped (5) |
| Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Nance C.S., Klein C.J., Banikazemi M., Dikman S.H., Phelps R.G., McArthur J.C., Rodriguez M., Desnick R.J.
Arch. Neurol. 63:453-457(2006) · UniProtKB (1) |
| Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. Bishop D.F., Johansson A., Phelps R., Shady A.A., Ramirez M.C., Yasuda M., Caro A., Desnick R.J.
Am. J. Hum. Genet. 78:645-658(2006) · Mapped (8) |
