Publication List of Kwang-Jen Hsiao, Ph.D. (蕭 廣 仁 教 授)

 Scientific Publications (1997 - Present)

Chen CH, Liu MY, Wei FC, Koong FJ, Hwu HG, Hsiao KJ.  Further evidence of no association between Ser9Gly polymorphism of dopamine D3 receptor gene and schizophrenia.  Am J Med Genet 1997;74:40-3.   [ PDF ]

68. Zhang M, Hsiao KJ, Su TS, Chao HK, Chen RG, Gu XF.  Two novel mutations in phenylalanine hydroxylase gene and in vitro expression analysis on Arg252Gln.  Chin Med Sci J 1997;12:22-5.   [ PDF ]

69. Chen CH, Wei FC, Koong FJ, Hsiao KJ.  Association of TaqI a polymorphism of dopamine D2 receptor gene and tardive dyskinesia in schizophrenia.  Biol Psychiatry 1997;41:827-9.   [ PDF ]

70. Chen CH, Lee YR, Wei FC, Koong FJ, Hwu HG, Hsiao KJ.  Association study of N1aIII and MspI genetic polymorphisms of Catechol-O-Methyltransferase gene and susceptibility to schizophrenia.  Biol Psychiatry 1997;41:985-7.   [ PDF ]

71. Jeng MJ, Lin CY, Soong WJ, Hsiao KJ, Hwang B, Chiang SH.  Neonatal thyroid function is unaffected by maternal topical iodine disinfection for cesarean section or vaginal delivery.  Clin Pediat 1997;2:109-11.   [ PDF ]

72. Jeng MJ, Lin CY, Soong WJ, Hsiao KJ, Hwang B, Chiang SH.  Neonatal thyroid function is unaffected by single treatment with different preparations of povidone-iodine on wide skin surface.  Acta Paed Sin 1997;38:28-31.   [ PDF ]

73. Chou P, Li CL, Kuo HS, Hsiao KJ, Tsai ST.  Comparison of the prevalence in two diabetes surveys in Pu-Li, Taiwan, 1987-88 and 1991-92.  Diabetes Res Clin Pr 1997;38:61-7.   [ PDF ]

74. Lin CM, Tan Y, Lee YM, Chang CC, Hsiao KJ.  Expression of human phenylalanine hydroxylase activity in T lymphocyte of classical phenylketonuria children by retroviral-mediated gene transfer.  J Inher Metab Dis 1997;20:742-54.   [ PDF ]

75. Liu XQ, Liu TT, Hsiao KJ, Zhang M, Zhang YF, Ye J, Chen RG, Gu XF.  Identification of mutation gene in atypical phenylketonuria.  Chin J Med Genet 1997;6:351-3. (in Chinese)   [ Abstract ]   [ PDF ]

76. Chen CH, Lee YR, Wei FC, Koong FJ, Hwu HG, Hsiao KJ.  Lack of allelic association between 102T/C polymorphism of serotonin receptor type 2A gene and schizophrenia in Chinese.  Psychiatr Genet 1997;7:35-8.   [ PDF ]

77. Liu TT, Hsiao KJ, Lu SF, Wu SJ, Wu KF, Chiang SH, Liu XQ, Chen RG, Yu WM.  Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.  Hum Mutat 1998;11:76-83.   [ PDF ]

78. Liu TT, Lu SF, Hsiao KJ.  Genomic Structure of 6-Pyruvoyl-tetrahydropterin Synthase Gene and a T/C Polymorphism Detected in Chinese.  J Biomed Lab Sci 1998;10:39-47.   [ Abstract ]      [ PDF ]

79. Chen CH, Shyu PW, Wu SJ, Sheu SS, Desnick RJ, Hsiao KJ.  Identification of a novel point mutation (S65T) in a -galactosidase A gene in Chinese patients with Fabry disease.   Hum Mutat 1998;11:328-30.   [ PDF ]

80. Tang DJ, Ma XQ, Song CY, Lin BH, Wu SJ, Chiang SH, Hsiao KJ.  Glucose-6-phosphate dehydrogenase mutations among Cantonese revealed by polymerase chain reaction using dried blood spots.  Chin J Hematol 1998;4:189-91. (in Chinese)   [ Abstract ]      [ PDF ]

81. Jeng MJ, Lin CY, Soong WJ, Hsiao KJ, Hwang BT, Chiang SH.  The effect of povidone-iodine on thyroid function of neonates with different birth sizes.  Acta Paed Sin 1998;39:371-5.   [ PDF ]

82. Chen CH, Chiu YL, Wei FC, Koong FJ, Liu HC, Shaw CK, Hwu HG, Hsiao KJ.  High seroprevalence of Borna virus infection in schizophrenic patients, family members and mental health workers in Taiwan.  Mol Psychiatry 1999;4:33-8.   [ PDF ]

83. Hong CJ, Song HL, Lai HC, Tsai, SJ, Hsiao KJ.  Methanol/acetone treatment helps the amplification of FMR1 CGG repeat fragment in dried blood spots from Guthrie cards.  Lancet 1999;353: 1153-4.   [ PDF ]

84. Tsai MT, Shaw CK, Hsiao KJ, Chen CH.  Genetic association study of a polymorphic CAG repeats array of calcium-activated potassium channel (KCNN3) gene and schizophrenia among the Chinese population from Taiwan.  Mol Psychiatry 1999;4:271-3.   [ PDF ]

85. Chen CH, Chiu YL, Shaw CK, Tsai MT, Hwang AL, Hsiao KJ.  Detection of Borna disease virus RNA from peripheral blood cells in schizophrenic patients and mental health workers.  Mol Psychiatry 1999;4:566-71.   [ PDF ]

86. Hsiao KJ, Liu TT, Liu MY, Wu KF, Chiang SH, Wu SJ.  Human gene mutations, Gene Symbol: PTS, Disease: Hyperphenylalaninemia.  Hum Genet 1999;104:115.   [ PDF ]

87. Cheung KL, Tang NLS, Hsiao KJ, Law LK, Wong W, Ng PC, Pang CP, Applegarth DA, Fok TF, Hjelm NM.  Classical galactosaemia in Chinese: A case report and review of disease incidence.  J Paediatr Child Health 1999;35:399-400.   [ PDF ]

88. Chen CH, Lee YR, Chung MY, Wei FC, Koong FJ, Shaw CK, Yeh JI, Hsiao KJ.  Systematic mutation analysis of the catechol O-methyltransferase gene as a candidate gene for schizophrenia.  Am J Psychiatry 1999;156:1273-5.   [ PDF ]

89. Hwu WL, Wang PJ, Hsiao KJ, Wang TR, Chiou YW, Lee YM.  Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.  Hum Genet 1999;105:226-30.   [ PDF ]

90. Chang CC, Hsiao KJ, Lee YM, Lin CM.  Towards metabolic sink therapy for mut methylmalonic acidaemia: Correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer.  J Inher Metab Dis 1999;22:773-87.   [ PDF ]

91. Chang CC, Hsiao KJ, Chen ML, Lin CM.  Towards metabolic sink therapy for mut methylmalonic acidaemia: Retrovirus-mediated transfer of the human methylmalonyl-CoA mutase cDNA into peripheral blood progenitor cells of a child with mut methylmalonic acidaemia.  J Inher Metab Dis 1999;22:951-2.   [ PDF ]

92. Liu XQ, Hsiao KJ, Gu XF, Liu TT, Zhang YF, Ye J, Zhang M, Chen RG.  A novel missense mutation in 6-pyruvoyl-tetrahydropterin synthase gene.  Chin J Med Genet. 1999;16:342. (in Chinese)   [ PDF ]

Chiang SH, Wu SJ, Wu KF, Hsiao KJ.  Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Taiwan.  Southeast Asian J Trop Med Public Health 1999;30: Suppl 2:72-4. [ PDF ]

94. Hsiao KJ, Chang YH, Liu TT, Chiang SH, Yang YL.  Human gene mutations, Gene Symbol: PTS, Disease:  Hyperphenylalaninemia. Accession Number: H971533, H971534.  Hum Genet 2000;106:151. [ PDF ]

Yang Y, Qi Y, Chao HT, Lee HH, Hsiao KJ, et al.  Prenatal diagnosis of congenital adrenal hyperplasia with 21-hydroxylase deficiency.  Chin J Pediatr 2000;38:766-8. (in Chinese)      [ Abstract ]   [ PDF ]

96. Chao HK, Hsiao KJ, Su TS.  A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria.  Hum Genet  2001;108:14-9.   [ PDF ]

97. Hsiao KJ, Chiu YH, Chang YH, Chiang SH, Liu TT.  Human gene mutations, Gene Symbol: PTS, Disease: Hyperphenylalaninemia, Accession Number: H971855.  Hum Genet 2001;108:176. [ PDF ]

Hsu HC, Lee YM, Yang CF, Hsiao KJ, Liu TT, Ho CK, Ho CH, Wang SY, Liu WT.  Detection of Kaposi's sarcoma-associated herpesvirus in bone marrow biopsy samples from Taiwanese patients with multiple myeloma.  Cancer 2001;91:1409-13.   [ PDF ]

99. Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Chich K, Yang Y, Cao Q, Reichardt JKV, Niihra S, Imamura T, Yamano T.  A genetic factor for agerelated cataract: identification and characterization of a novel galactokinase variant "Osaka" in Asians.  Am J Hum Genet 2001;68:1036-42.   [ PDF ]

100. Liu TT, Chang YH, Chiang SH, Yang YL, Yu WM, Hsiao KJ.  Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutation (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia cause by tetrahydrobiopterin synthesis deficiency.  Mutation in Brief no. 425 (2001) OnlineHum Mutat 2001;18:83.   [ PDF ]

101. Liu TT, Chiang SH, Wu SJ, Hsiao KJ.  Tetrahydrobiopterin deficient hyperphenylalaninemia in the Chinese.  Clin Chim Acta 2001;313:157-69.   [ PDF ]

102. Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi, Y, Hsiao KJ.  Identification of mutations in vasopressin 2 receptor gene causing nephrogenic diabetes insipidus in Chinese patients.  J Hum Genet 2002; 47:66-73.   [ PDF ]

103. Chen KJ, Chao HK, Hsiao KJ, Su TS.  Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.   Hum Genet 2002;110:235-43.   [ PDF ]

Tsai MT, Hung CC, Tsai CY, Liu MY, Su YC, Chen YH, Hsiao KJ, Chen CH.  Mutation analysis of synapsin III gene in schizophrenia.  Am J Med Genet 2002;114:79-83.   [ PDF ]

Chen YM, Rey WY, Lan YC, Lai SF, Huang YC, Wu SI, Liu TT, Hsiao KJ.  Antibody reactivity to HIV-1 Vpu in HIV-1/AIDS patients on highly active antiretroviral therapy.  J Biomed Sci 2003;10:266-275.   [ PDF ]

Kobayashi K, Lu YB, Li MX, Nishi I, Hsiao KJ, Choeh K, Yang YL, Hwu WL, Reichardt JKV, Palmilerl F, Okano Y, Saheki T.  Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asia populations.  Mol Genet Metab 2003;80:356-9.   [ PDF ]

Liu XQ, Zhang YF, Liu TT, Gu XF, Hsiao KJ, Bao KR, Yu LH.  Genotype and phenotype correlation in Chinese patients with Wilson's Disease.  Chin J Pediatr 2003;41:35-8. (in Chinese)   [ PDF ]

108. Sakaki Y et al (The Chimpanzee Chromosome 22Sequencing Consortium). Human vs chimpanzee chromosome-wide sequence comparison and its evolutionary implication. Cold Spring Harb Symp Quant Biol 2003;68:455-60.      [ Abstract ]   [ PDF ]
109. Chiang SH, Wu KF, Liu TT, Wu SJ, Hsiao KJ. Quality assurance program for neonatal screening of glucose-6phosphate dehydrogenase deficiency. Southeast Asian J Trop Med Public Health 2003;34 Suppl 3:130-4. [ PDF ]
110. Jiang J, Ma X, Song C, Lin B, Cao W, Wu S, Hsiao KJ. Using the fluorescence spot test for neonatal screening of G6PD deficiency. Southeast Asian J Trop Med Public Health 2003;34 Suppl 3:140-2.   [ PDF ]
111. Hwu WL, Huang AC, Chen JS, Hsiao KJ, Tsai WY. Neonatal screening and monitoring system in Taiwan. Southeast Asian J Trop Med Public Health 2003;34 Suppl 3:91-3.   [ PDF ]
Liu XQ, Zhang YF, Liu TT, Hsiao KJ, Zhang JM, Gu XF, Bao KR, Yu LH, Wang MX.  Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.  World J Gastroenterol 2004;10:590-3.   [ PDF ]

Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y.  Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.  Mol Genet Metab 2004;81:S20-6.   [ PDF ]

The International Chimpanzee Chromosome 22 Consortium.  DNA sequence and comparative analysis of chimpanzee chromosome 22.  Nature 2004;429:382-8.   [ Abstract ]       [ PDF ] [News & Views]

Bartholomay LC, Cho WL, Rocheleau TA, Boyle JP, Beck ET,  Fuchs JF, Liss P, Rusch M, Butler KM, Wu RCC, Lin SP, Kuo HY, Tsao IY, Huang CY, Liu TT, Hsiao KJ, Tsai SF, Yang UC, Nappi AJ, Perna NT, Chen CC, Christensen BM.  Description of the transcriptomes of immune response-activated hemocytes from the mosquito vectors Aedes aegypti and Armigeres subalbatusInfect Immun 2004;72:4114-26.   [ PDF ]

Wu KH, Tzung TY, Ro LS, Hsiao KJ.  A novel mutation (c.1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.  Acta Derm Venereol 2004;84:310-1.   [ PDF ]

Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fan CSJ, Wu JY, Hsiao KJ, Tsai SF.  Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.  Am J Hum Genet 2004;75:310-7.   [ PDF ]
118. Wu KH,Tzung TY, Ro LS, Hsiao KJ. Clinical features and one-year experience with enzyme replacement therapy in a Taiwanese kindred with Fabry disease. Dermatol Sinica 2004;22:159-65.         [ Abstract ]   [ PDF ]
119. Lin MW, Lee DD, Lin CH, Huang CY, Wong CK, Chang YT, Liu HN, Hsiao KJ, Tsai SF. Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23. Br J Dermatol 2005;152:29-36.   [ PDF ]
120. Lan YC, Liu TT, Yang JY, Lee CM, Chen YJ, Chan YJ, Lu JJ, Liu HF, Hsiung CA, Ho MS, Hsiao KJ, Chen HY, Chen YMA. Molecular epidemiology of SARS coronavirus infections in Taiwan. J Infect Dis 2005;191:1478-89.   [ PDF ]
121. Liu YF, Chen WM, Lin YF, Yang RC, Lin MW, Li LH, Chang YH, Jou YS, Lin PY, Su JS, Huang SF, Hsiao KJ, Fann CSJ, Hwang HW, Chen YT, Tsai SF. Mutations in the type II collagen gene and inherited osteonecrosis of the femoral head. N Engl J Med 2005;352:2294-301.   [ PDF ]
122. International Rice Genome Sequencing Project. The map-based sequence of the rice genome. Nature 2005;436:793-800.   [ PDF ]
123. Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T. Frequency and distribution in East Asia of twelve mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. J Hum Genet 2005;50:338-46.   [ PDF ]
123-1. Hu WM, Hsiao KJ, Cheng CY, Su TS, Wang PH, Yang ML. Prenatal diagnosis of classical phenylketonuria with polymerase chain reaction, automatic sequencing, and linkage analysis with short tandem repeats. Taiwanese J Obstet Gynecol 2005;44:52-6. DOI: 10.1016/S1028-4559(09)60107-8 [ PDF ]

Lee NC, Niu DM, Lin CY, Hsiao KJ, Yang AH, Ng YY. Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease? Nephrol Dial Transplant 2006;21:549-50.   [ PDF ]

125. Lee NC, Cheng LY, Liu TT, Hsiao KJ, Chiu PC, Niu DM. Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency. Mol Genet Metab 2006;87:128-34.   [ PDF ]
126. Wang L, Yu WM, He C, Chang M, Shen M, Zhou Z, Zhang Z, Shen S, Liu TT, Hsiao KJ. Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis 2006;29:127-34.   [ PDF ]
127. Wang L, Yu WM, Li XW, He C, Chang M, Shen M, Zhao SP, Fu GX, Shen S, Liu TT, Hsiao KJ. Study on tetrahydrobiopterin deficiency in Northern Chinese population. Chin J Med Genet 2006;23:275-9. (in Chinese)   [ PDF ]
128. Mayhew GF, Bartholomay LC, Kuo HY, Rocheleau TA, Fuchs JF, Aliota MT, Tsao IY, Huang CY, Liu TT, Hsiao KJ, Tsai SF, Yang UC, Perna NT, Cho WL, Christensen BM, Chen CC. Construction and characterization of an expressed sequenced tag library for the mosquito vector Armigeres subalbatus. BMC Genomics 2007;8:462.   [ PDF ]
129. Liu KM, Liu TT, Lee NC, Cheng LY, Hsiao KJ, Niu DM. Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency. Arch Neurol 2008;65:387-92. DOI:10.1001/archneur.65.3.387  [ PDF ] [ Comment ]
130. Ho PY, Huang MZ, Fwu VT, Lin SC, Hsiao KJ, Su TS. Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions. Biochem Biophys Res Commun 2008;373:515-20. [ PDF ]
131. Chiang SH, Fan ML, Hsiao KJ. External quality assurance program for newborn screening of glucose-6-phosphate dehydrogenase deficiency. Ann Acad Med Singapore 2008;37(Suppl 3):84-7. [ PDF ]
132. Kao CH, Liu MY, Liu TT, Hsiao KJ, Cheng KH, Huang CH, Lin HY, Niu DM. Growth hormone therapy in neonatal patients with methylmalonic acidemia. J Chin Med Assoc 2009;72:462-7. [ PDF ]
133. Vatanavicharn N, Kuptanon C, Liammongkolkul S, Liu TT, Hsiao KJ, Ratanarak P, Blau N, Wasant P. Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis 2009; 32:754. [ PDF ]
134. Yen MY, Wang AG, Lin YC, Fann MJ, Hsiao KJ. Novel mutations of the OPA1 gene in Chinese dominant optic atrophy. Ophthalmology 2010;117:392-6. [ PDF ]
Cheng KH, Liu MY, Kao CH, Chen YJ, Hsiao KJ, Liu TT, Lin HY, Huang CH, Chiang CC, Ho HJ, Lin SP, Lee NC, Hwu WL, Lin JL, Hung PY, Niu DM. Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan. J Chin Med Assoc 2010;73:314-8. [ PDF ]
Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, Chiang SH, Kao CH, Liu TT, Chiang H, Hsiao KJ. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis 2010;33(Suppl 2):S295-305. [ PDF ]
137. Liu MY, Yang YL, Chang YC, Chiang SH, Lin SP, Han LS, Qi Y, Hsiao KJ, Liu TT. Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. J Hum Genet 2010;55:621-6. [ PDF ]
138. Lin JT, Hsiao KJ, Chen CY, Wu CC, Lin SJ, Chou YY, Shiesh SC. High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. Clin Chim Acta 2011;412:460-5. [ PDF ]
139. Shu HW, Liu TT, Chang HY, Liu YM, Wu KM, Shu HY, Tsai SF, Hsiao KJ, Hu WS, Ng WV. Genome sequence of the repetitive sequence rich Mycoplasma fermentans strain M64. J Bacteriol 2011;193:4302-3. [ PDF ]
140. Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT. Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. J Hum Genet 2012;57:145-52. [ PDF ] [Supplement]
141. Shu HW, Liu TT, Chan HI, Liu YM, Wu KM, Shu HY, Tsai SF, Hsiao KJ, Hu WS, Ng WV. Complexity of the Mycoplasma fermentans M64 genome and metabolic essentiality and diversity among Mycoplasmas. PLoS One 2012;7:e32940. [ PDF ]
142. Liu YC, Lin IH, Chung WJ, Hu WS, NgWV, Lu CY, Huang TY, Shu HW, Hsiao KJ, Tsai SF, Chang CH, Lin CH. Proteomics characterization of cytoplasmic and lipid-associated membrane proteins of human pathogen Mycoplasma fermentans M64. PLoS One 2012;7:e35304. [ PDF ]
143. Liu MY, Liu TT, Yang YL, Chang YC, Fan YL, Lee SF, Teng YT, Chiang SH, Niu DM, Lin SJ, Chao MC, Lin SP, Han LS, Qi Y, Hsiao KJ. Mutation profile of the MUT gene in Chinese methylmalonic aciduria patients. JIMD Reports 2012; 6:55-64, DOI: 10.1007/8904_2011_117. [ PDF ]
144. Huang HM, Chiang SH, Shiau YS, Yeh WY, Ho HC, Wang L, Chen SC, Lin HC, Chen KC, Chiang H, Yang MC, Yu LH, Lin HL, Chiu AW, Hsiao KJ. The universal newborn hearing screening program of Taipei City. Int J Pediatr Otorhinolaryngol 2013;77:1734-7. DOI: 10.1016/j.ijporl.2013.08.004 [ PDF ]
145. Liang Y, Huang MZ, Cheng CY, Chao HK, Fwu VT, Chiang SH, Hsiao KJ, Niu DM, Su TS. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population. J Hum Genet 2014;59:145-52. DOI: 10.1038/jhg.2013.136 [ PDF ]
146. Chiu YH, Liu YN, Liao WL, Chang YC, Lin SP, Hsu CC, Chiu PC, Niu DM, Wang CH, Ke YY, Chien YH, Hsiao KJ, Liu TT. Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan. Biochem Genet 2014;52: 415-29. DOI: 10.1007/s10528-014-9657-6 [ PDF ] [Supplement]
147. Verma J, Thomas DC, Sharma S, Jhingan G, Singh A, Hsiao KJ, Schoonderwoerd K, Puri RD, Verma IC. Inherited metabolic disorders: Quality management for laboratory diagnosis. Clin Chim Acta 2015;447:1-7. DOI: 10.1016/j.cca.2015.04.040 [ PDF ]
148. Liu YN, Liu TT, Fan YL, Niu DM, Chien YH, Chou YY, Lee NC, Hsiao KJ, Chiu YH. Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography. Clin Chim Acta 2016;453:13-20. DOI: 10.1016/j.cca.2015.11.023 [ PDF ]
149. Tsao PC, Shiau YS, Chiang SH, Ho HC, Liu YL, Chung YF, Lin LJ, Chen MR, Chang JK, Soong WJ, Lin HL, Hwang B, Hsiao KJ. Development of a Newborn Screening Program for Critical Congenital Heart Disease (CCHD) in Taipei. PLoS One 2016;11:e0153407. DOI: 10.1371/journal.pone.0153407 [ PDF ]
150. Tsao PC, Yeh HL, Chang YC, Chiang PH, Shiau YS, Chiang SH, Soong WJ, Jeng MJ, Hsiao KJ. Outcomes of neonatal jaundice in Taiwan. Arch Dis Child 2018;103:927-9. DOI: 10.1136/archdischild-2017-314063. [ PDF ]
151. Muniz JRC, Szeto NWS, Cocking R, Wang XS, Th?ny B, Himmelreich N, Blau N, Hsiao KJ, Liu TT, Gileadi O, Oppermann U, Yue WW, Tang NLS. Role of protein structure in variant annotation: Structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency. Pathology 2019;51:274-80. DOI: 10.1016/j.pathol.2018.11.011. [ PDF ] [Supplement]
152. Chiu YH, Chen HJ, Chang YC, Liu YN, Kao SM, Liu MY, Weng YY, Hsiao KJ, Liu TT. Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program. Clin Chim Acta 2019;495:271-7. DOI: 10.1016/j.cca.2019.04.074. [ PDF ] [Supplement]
153. Chiu YH, Liu YN, Chen HJ, Chang YC, Kao SM, Liu MY, Weng YY, Hsiao KJ, Liu TT. Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan. Data Brief 2019;25:104129. DOI: 10.1016/j.dib.2019.104129. [ PDF ]
154. Tsao PC, Yeh HL, Shiau YS, Chang YC, Chiang SH, Soong WJ, Jeng MJ, Hsiao KJ, Chiang PH. Long-term neurodevelopmental outcomes of significant neonatal jaundice in Taiwan from 2000-2003: a nationwide, population-based cohort study. Sci Rep 2020;10:11374. DOI: 10.1038/s41598-020-68186-w. [ PDF ]
155. Tsao PC, Chiang SH, Shiau YS, Chen HY, Lin HL, Ho HC, Chen MR, Chang JK, Wang JK, Chiu SN, Jeng MJ, Hsiao KJ. Comparing strategies for critical congenital heart disease newborn screening. Pediatrics 2023;151:e2022057862. DOI: 10.1542/peds.2022-057862. [ PDF ] [Supplement]

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Updated Feb. 24, 2023 by K.-J.Hsiao 蕭 廣 仁 教 授   ( 臨床生化研究室