Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGFR inhibitors via increased EGFR degradation.
Cancer Discov., Nov (2012)
Disorders of sterol synthesis: Beyond Smith-Lemli-Opitz syndrome.
Am J Med Genet C Semin Med Genet., Nov;160C(4):301-21 (2012)
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Am. J. Med. Genet. A., Feb;158A(2):391-9 (2012)
Chondrodysplasia Punctata 2, X-Linked
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Am. J. Med. Genet. A., Apr;155A(4):706-16 (2011)
Contactin 4 as an autism susceptibility locus.
Autism Res., Jun;4(3):189-99 (2011)
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Am. J. Hum. Genet., Dec;87(6):905-14 (2010)
Malformation syndromes caused by disorders of cholesterol synthesis.
J. Lipid Res., Jan;52(1):6-34 (2011)
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
Autism Res., Jun;3(3):137-41 (2010)
A tale of two deletions: a report of two novel 20p13 --> pter deletions.
Am. J. Med. Genet. A., Apr;152A(4):1000-7 (2010)
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.
Hum. Mol. Genet., Jan;19(2):364-73 (2010)
Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.
Mol. Genet. Metab., Dec;98(4):356-66 (2009)
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
Genet. Med., Feb;11(2):111-7 (2009)
Genetic testing in autism: how much is enough?
Genet. Med., May;9(5):268-74 (2007)
CHILD syndrome: clinical picture and diagnostic procedures.
J Eur Acad Dermatol Venereol., May;21(5):715-6 (2007)
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
Am. J. Med. Genet. A., Mar;143(6):589-93 (2007)
Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.
Hum. Mol. Genet., Nov;15(22):3293-305 (2006)
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
J. Pediatr., Jul;149(1):89-97 (2006)
Pbx1 and Meis1 regulate activity of the Xenopus laevis Zic3 promoter through a highly conserved region.
Biochem. Biophys. Res. Commun., Jun;344(3):1031-7 (2006)
Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts.
J. Lipid Res., Jun;46(6):1150-62 (2005)