"Bacteria associated with an encrusting sponge (Terpios hoshinota) and the corals partially covered by the sponge," Environmental Microbiology (Vol: 13, Issue: 5, Page 1179-1191) - 2011
"Novel mutation causing Hermansky-Pudlak Syndrome Type 2," Pediatric Blood and Cancer (Vol: 55, Issue: 7, Page 1438-1438) - 2010
"Influence of species specificity and other factors on bacteria associated with the Coral Stylophora pistillata in Taiwan," Applied and Environmental Microbiology (Vol: 75, Issue: 24, Page 7797-7806) - 2009
"Evidence suggesting digenic inheritance of waardenburg syndrome type II with ocular albinism," American Journal of Medical Genetics, Part A (Vol: 149, Issue: 12, Page 2739-2744) - 2009
"Oculocutaneous albinism spectrum," American Journal of Medical Genetics, Part A (Vol: 149, Issue: 7, Page 1590-1591) - 2009
"A case of Asian Indian OCA3 patient," American Journal of Medical Genetics, Part A (Vol: 149, Issue: 7, Page 1578-1580) - 2009
"Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome," American Journal of Medical Genetics, Part A (Vol: 149, Issue: 7, Page 1463-1467) - 2009
"Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation," American Journal of Medical Genetics, Part A (Vol: 149, Issue: 3, Page 431-436) - 2009
"Management of a patient with holocarboxylase synthetase deficiency," Molecular Genetics and Metabolism (Vol: 95, Issue: 4, Page 201-205) - 2008
"A new hypothesis of OCA1B," American Journal of Medical Genetics, Part A (Vol: 146, Issue: 22, Page 2968-2970) - 2008
"Synergistic interaction of the OCA2 and OCA3 genes in a family," American Journal of Medical Genetics, Part A (Vol: 146, Issue: 18, Page 2427-2430) - 2008
"Questionable 16S ribosomal RNA gene annotations are frequent in completed microbial genomes," Gene (Vol: 416, Issue: 1-2, Page 44-47) - 2008
"Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive," American Journal of Medical Genetics, Part A (Vol: 146, Issue: 11, Page 1493-1496) - 2008
"Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome," Current Opinion in Pediatrics (Vol: 20, Issue: 1, Page 103-106) - 2008
"Study of Dosage Compensation in Drosophila," Genetics (Vol: 165, Issue: 3, Page 1167-1181) - 2003
"Human and mouse disorders of pigmentation," Current Opinion in Genetics and Development (Vol: 13, Issue: 3, Page 284-289) - 2003
"The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles," Journal of Biological Chemistry (Vol: 278, Issue: 22, Page 20332-20337) - 2003
"The 5′-Untranslated Region of the FMR1 Message Facilitates Translation by Internal Ribosome Entry," Journal of Biological Chemistry (Vol: 276, Issue: 41, Page 37916-37921) - 2001
"Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the van der woude syndrome locus on 1q32-q41," Human Mutation (Vol: 18, Issue: 5, Page 422-434) - 2001
"Molecular analysis of urine sediment for follow-up of urinary tract cancers," Journal of the National Cancer Institute (Vol: 92, Issue: 21, Page 1779-1780) - 2000
