International Journal

Publications of Research in International Journals

  • Faradz SM, Buckley M, Lam-Po-Tang, Leigh D, Holden JJ. Molecular screening for fragile X syndrome among Indonesian children with developmental disability. Am J Med Genet 1999;83(4):350-1. PubMed PMID: 10208179.
  • Faradz SM, Pattiiha MZ, Leigh DA, Jenkins M, Leggo J, Buckley MF, Holden JJ. Genetic diversity at the FMR1 locus in the Indonesian population. Ann Hum Genet 2000;64(4):329-39. PubMed PMID: 11415517.
  • Faradz SM, Leggo J, Murray A, Lam-Po-Tang PR, Buckley MF, Holden JJ. Distribution of FMR1 and FMR2 alleles in Javanese individuals with developmental disability and confirmation of a specific AGG interruption pattern in Asian population. Ann Hum Genet 2001;65(2):127-35. PubMed PMID: 11427173.
  • Koraka P, Suharti C, Setiati TE, Mairuhu AT, Van Gorp E, Hack CE, Juffrie M, Sutaryo J, Van Der Meer GM, Groen J, Osterhaus AD. Kinetics of dengue virus-specific serum immunoglobulin classes and subclasses correlate with clinical outcome of infection. J Clin Microbiol 2001;39(12):4332-8.
  • Koraka P, Burghoorn-Maas CP, Falconar A, Setiati TE, Djamiatun K, Groen J, Osterhaus AD. Detection of immune-complex-dissociated nonstructural-1 antigen in patients with acute dengue virus infections. J Clin Microbiol. 2003 Sep;41(9):4154-9.
  • Maihuru AT, Setiati TE, Koraka P, Hack CE, Leyte A, Faradz SM, ten Cate H, Brandjes DP, Osterhaus AD, Reitsma PH, van Gorp EC. Increased PAI-1 plasma levels and risk of death from dengue: no association with the 4G/5G promoter polymorphism. Thromb J 2005;3:17. Thromb J. 2005 Nov 7;3:17. PubMed PMID: 16274483; PubMed Central PMCID: PMC1308869.
  • Cools M, Stoop H, Kersemaekers AM, Drop SL, Wolffenbuttel KP, Bourguignon JP, Slowikowska-Hilczer J, Kula K, Faradz SM, Oosterhuis JW, Looijenga LH. Gonadoblastoma arising in undifferentiated godanal tissue within dysgenetic gonads. J Clin Endocrinol Metab 2006;91(6):2404-13. J Clin Endocrinol Metab. 2006 Jun;91(6):2404-13. Epub 2006 Apr 11. PubMed PMID: 16608895.
  • Mizuta E, Furuichi H, Kazuki Y, Miake J, Yano S, Bahrudin U, Yamamoto Y, Igawa O, Shigemasa C, Hidaka K, Morisaki T, Kurata U, Ninomiya H, Kitakaze M, Shirayoshi Y, Oshimura M, Hisatome I. Delayed onset of beating and decreased expression of T-type Ca2+ channel in mouse ES cell-derived cardiocytes carrying human chromosome 21. Biochem Biophys Res Commun 2006;351(1):126-32. Biochem Biophys Res Commun. 2006 Dec 8;351(1):126-32. Epub 2006 Oct 12. PubMed PMID: 17054917.
  • Setiati TE, Mairuhu AT, Koraka P, Supriatna M, Mac Gillavry MR, Brandjes DP, Osterhaus AD, van der Meer JW, van Gorp EC, Soemantri A. Dengue disease severity in Indonesian children: an evaluation of the World Health Organization classification system. BMC Infect Dis 2007;26(7):22.
  • Ogura K, Miake J, Sasaki N, Iwai C, Bahrudin U, Li P, Kato M, Iitsuka K, Hirota Y, Koshida T, Yamamoto Y, Inoue Y, Yano A, Adachi M, Igawa O, Kurata Y, Morisaki T, Shiota G, Shirayoshi Y, Haruaki N, Hisatome I. Inhibition of beta-adrenergic signaling by intracellular AMP is independent of cell-surface adenosine receptors in rat cardiac cells. J Mol Cell Cardiol. 2007 Nov;43(5):648-52. Epub 2007 Aug 3. PubMed PMID: 17888450.
  • Goossens K, Juniarto AZ, Timmerman MA, Faradz SM, Wolffenbuttel KP, Drop SL, de Jong FH. Lack of correlation between phenotype and genotype in untreated 21-hydroxylase deficient Indonesian patients. Clin Endocrinol (Oxf). 2009 Nov;71(5):628-35. Epub 2009 Feb 18. PubMed PMID: 19226270.
  • Elfferich P, Juniarto AZ, Dubbink HJ, van Royen ME, Molier M, Hoogerbrugge J, Houtsmuller AB, Trapman J, Santosa A, de Jong FH, Drop SL, Faradz SM, Bruggenwirth H, Brinkmann AO. Functional analysis of novel androgen receptor mutations in a unique cohort of Indonesian patients with a disorder of sex development. Sex Dev. 2009;3(5):237-44. Epub 2009 Oct 23. PubMed PMID: 19851057.
  • Chonchaiya W, Utari A, Pereira GM, Tassone F, Hessl D, Hagerman RJ. Broad clinical involvement in a family affected by the fragile X premutation. J Dev Behav Pediatr 2009;30(6):544-51.
  • Pleskacova J, Hersmus R, Oosterhuis JW, Setyawati BA, Faradz SM, Cools M, Wolffenbuttel KP, Lebl J, Drop SL, Looijenga LH. Tumor risk in disorders of sex development. Sex Dev. 2010 Sep;4(4-5):259-69. Epub 2010 Jun 17. Review. PubMed PMID: 20558977.
  • Chonchaiya W, Nguyen DV, Au J, Campos L, Berry-Kravis EM, Lohse K, Mu Y, Utari A, Hervey C, Wang L, Sorensen P, Cook K, Gane L, Tassone F, Hagerman RJ. Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet 2010;78(1):38-46
  • Utari A,  Adams E, Berry-Kravis E, Chavez A, Scaggs F, Ngotran L, Boyd A, Hessl D, Gane LW, Tassone F, Tartaglia N, Leehey MA, Hagerman RJ. Aging in fragile X Syndrome. J Neurodevelop Disord 2010;2(2):70–76
  • Mundhofir FEP, Kooper AJA, Winarni, Smits APT, Faradz SMH, and Hamel BCJ. A small supernumerary marker (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: A case report. Genet Couns. 2010;21(1):99-108. PubMed PMID: 20420036.
  • Khan MI, Collin RWJ, Arimadyo K, Micheal S, Azam M, Qureshi N, Hollander AI, Qamar R, Cremers FPM. Missense mutation at homologous positions in the 4th and 5th laminin A G-like domains of EYS causes autosomal recessive retinitis pigmentosa. Molecular Vision 2010;16:2753-9. PubMed PMID: 21179430; PubMed Central PMCID: PMC3003713.
  • Utari A, Chonchaiya W, Rivera SM, Schneider A, Hagerman RJ, Faradz SMH, Ethell IM, Nguyen DV. Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures. Am J Intellect Dev Disabil. 2010 Sep;115(5):433-43. PubMed PMID: 20687826.
  • Collin RWJ, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JTHN, van Schooneveld M, Heckenlively JR, Hoyng CB, den Hollander AI, Cremers FPM. High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative for autosomal recessive RP in the Dutch population. Invest Ophthalmol Vis Sci 2011;52(5):2227-39.
  • Azam M, Collin RW, Malik A, Khan MI, Shah ST, Shah AA, Hussain A, Sadeque A, Arimadyo K, Ajmal M, Azam A, Qureshi N, Bokhari H, Strom TM, Cremers FP, Qamar R, den Hollander AI. Identification of novel mutations in pakistani families with autosomal recessive retinitis pigmentosa. Arch Ophthalmol 2011;129(10):1377-8.
  • Michels M, Djamiatun K, Faradz SM, Koenders MM, de Mast Q, van der Ven AJ. High plasma mid-regional pro-adrenomedullin levels in children with severe dengue virus infections. . J Clin Virol. 2011 Jan;50(1):8-12. Epub 2010 Oct 16. PubMed. PMID: 20952250.
  • Djamiatun K, Ferwerda B, Netea MG, van der Ven AJ, Dolmans WMV, Faradz SMH. Toll-like receptor 4 polymorhisms in dengue virus infected children. Am J Trop Med Hyg 2011;85:352-4. PubMed PMID: 21813858; PubMed Central PMCID:PMC3144836.
  • Widayanti CG, Ediati A, Tamam M, Faradz SMH, Sistermans EA, Plass AMC. Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers. Ethnicity & Health 2011;16(4-5):483-499. PubMed PMID: 21797731.
  • Hermawati D, Then SM, Winarni TI, Faradz SMH, Jamal R. Lower erythrocyte GST activity in autism spectrum disorder (ASD) patients compared to normal controls. Asia-Pacific Journal of Molecular Medicine 2011;1:2
  • Setijowati ED, van Dijk FS, Cobben JM, van Rijn RR, Sistermans EA, Faradz SM, Kawiyana S, Pals G. A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. Eur J Med Genet. 2011 Oct 24. [Epub ahead of print] PubMed PMID: 22085994.
  • Djamiatun K, Faradz SM, Setiati TE, Netea MG, van der Ven AJ, Dolmans WM. Increase of plasminogen activator inhibitor-1 and decrease of transforming growth factor B1 in children with dengue haemorrhagic fever in Indonesia. J Trop Pediatr. 2011 Dec;57(6):424-32. Epub 2011 Jan 28. PubMed PMID: 21278057.
  • Juniarto A Z, Goossens K, Setyawati B A, Drop S L S, de Jong F H, Faradz SMH. Correlation between androstenedione and 17-hydroxyprogesterone levels in saliva and plasma in treated patients with congenital adrenal hyperplasia. Singapore Med  J. 2011 Nov;52(11):810-3. PubMed PMID: 22173250.
  • Juniarto AZ, Setyawati BA, Miranti IP, Santosa A, Hersmus R, Stoop H, Cools M, Oosterhuis JW, Drop SLS, Faradz SMH, Looijenga LHJ. Gonadal tumors in Indonesian patients with disorders of sex development. International Journal of Endocrinology 2011 (in press).
  • Juniarto AZ, Setyawati BA, Ediati A, van der Zwan YG, Looijenga LHJ, de Jong FH, Dessens A, Drop SLS, Faradz SMH. Case report virilization due to androgen hypersecretion in a patient with an ovarian Leydig cell tumor: diagnostic and psychosocial implications. The Malaysian Journal of Medical Sciences 2011 (in press).
  • Winarni TI, Utari A, Mundhofir FEP, Tong T, Durbin-Johnson B, Faradz SMH, Tassone F. Identification of expanded alleles of the FMR1 gene among high risk population in Indonesia using blood spot screening. Genetic Testing and Molecular Biomarkers, 2011. Genet Test Mol Biomarkers. 2011 Oct 11. [Epub ahead of print] PubMed PMID: 21988366.
  • Mundhofir FEP, von Bon BMW, Winarni TI, Sistermans EA, Faradz SMH, Hamel BCJ. p.Ser252Trp and p.Pro253Arg mutations in FGFR2 causing apert syndrome: The first clinical and molecular report of Indonesian patients. (Submitted to Singapore Medical Journal).
  • Mundhofir FEP, Winarni TI, van Bon BWM, Aminah S, Nillesen WM, Merkx G, Smeets D, Hamel BCJ, Faradz SMH, Yntema HG. A cytogenetic study in a large Indonesian population of mentally retarded. Genet Test Mol Biomarkers. 2011 Dec 22. [Epub ahead of print] PubMed PMID: 22191675.
  • Sumekar T, Ashrani A, Winarni T, and Hagerman RJ. Monoclonal gammopathy of undetermined significance (MGUS) in a man with fragile X-associated tremor/ataxia syndrome (FXTAS). Journal Case Reports in Genetics 2011 (in press).
  • Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol Vis. 2011;17:3013-24. Epub 2011 Nov 18. PubMed PMID: 22128245; PubMed Central PMCID: PMC3224842.
  • Bahrudin U, Morikawa K, Takeuchi A, Kurata Y, Miake J, Mizuta E, Adachi K, Higaki K, Yamamoto Y, Shirayoshi Y, Yoshida A, Kato M, Yamamoto K, Nanba E, Morisaki H, Morisaki T, Matsuoka S, Ninomiya H, Hisatome I. Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction. J Mol Biol. 2011 Nov 4;413(4):857-78. Epub 2011 Sep 12. PubMed PMID: 21939669.
  • Higaki K, Li L, Bahrudin U, Okuzawa S, Takamuram A, Yamamoto K, Adachi K, Paraguison RC, Takai T, Ikehata H, Tominaga L, Hisatome I, Iida M, Ogawa S, Matsuda J, Ninomiya H, Sakakibara Y, Ohno K, Suzuki Y, Nanba E. Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. Hum Mutat. 2011 Jul;32(7):843-52. doi:10.1002/humu.21516. PubMed PMID: 21520340.
  • Ting YK, Morikawa K, Kurata Y, Li P, Bahrudin U, Mizuta E, Kato M, Miake J, Yamamoto Y, Yoshida A, Murata M, Inoue T, Nakai A, Shiota G, Higaki K, Nanba E, Ninomiya H, Shirayoshi Y, Hisatome I. Transcriptional activation of the anchoring protein SAP97 by heat shock factor (HSF)-1 stabilizes K(v) 1.5 channels in HL-1 cells. Br J Pharmacol. 2011 Apr;162(8):1832-42. doi: 10.1111/j.1476-5381.2011.01204.x. PubMed PMID: 21232033; PubMed Central PMCID:PMC3081125.
  • Nindita Y, Hamada T, Bahrudin U, Hosoyamada M, Ichida K, Iwai C, Urashima S, Kuwabara N, Utami SB, Mizuta E, Yamada K, Igawa O, Shigemasa C, Ninomiya H, Tsuchihashi T, Hisatome I. Effect of losartan and benzbromarone on the level of human urate transporter 1 mRNA. Arzneimittelforschung. 2010;60(4):186-8. PubMedPMID: 20486468.
  • Morikawa K, Bahrudin U, Miake J, Igawa O, Kurata Y, Nakayama Y, Shirayoshi Y, Hisatome I. Identification, isolation and characterization of HCN4-positive pacemaking cells derived from murine embryonic stem cells during cardiac differentiation. Pacing Clin Electrophysiol. 2010 Mar;33(3):290-303. Epub 2009 Nov 5. PubMed PMID: 19895411.
  • Koshida S, Kurata Y, Notsu T, Hirota Y, Kuang TY, Li P, Bahrudin U, Harada S, Miake J, Yamamoto Y, Hoshikawa Y, Igawa O, Higaki K, Soma M, Yoshida A, Ninomiya H, Shiota G, Shirayoshi Y, Hisatome I. Stabilizing effects of eicosapentaenoic acid on Kv1.5 channel protein expressed in mammalian cells. Eur J Pharmacol. 2009 Feb 14;604(1-3):93-102. Epub 2008 Dec 16. PubMed PMID: 19121632.
  • Bahrudin U, Morisaki H, Morisaki T, Ninomiya H, Higaki K, Nanba E, Igawa O, Takashima S, Mizuta E, Miake J, Yamamoto Y, Shirayoshi Y, Kitakaze M, Carrier L, Hisatome I. Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy. J Mol Biol. 2008 Dec 26;384(4):896-907. Epub 2008 Oct 7. PubMed PMID: 18929575.
  • Yano S, Miake J, Mizuta E, Manabe K, Bahrudin U, Morikawa K, Arakawa K, Sasaki N, Igawa O, Shigemasa C, Yamamoto Y, Morisaki T, Hidaka K, Kurata Y, Yoshida A, Shiota G, Higaki K, Ninomiya H, Lee JK, Shirayoshi Y, Hisatome I. Changes of HCN gene expression and I(f) currents in Nkx2.5-positive ardiomyocytes derived from murine embryonic stem cells during differentiation. Biomed Res. 2008 Aug;29(4):195-203. PubMed PMID: 18724007.
  • Hirota Y, Kurata Y, Kato M, Notsu T, Koshida S, Inoue T, Kawata Y, Miake J, Bahrudin U, Li P, Hoshikawa Y, Yamamoto Y, Igawa O, Shirayoshi Y, Nakai A, Ninomiya H, Higaki K, Hiraoka M, Hisatome I. Functional stabilization of Kv1.5 protein by Hsp70 in mammalian cell lines. Biochem Biophys Res Commun. 2008 Aug 1;372(3):469-74. Epub 2008 May 23. PubMed PMID: 18502196.
  • Rob W J Collin, L Ingeborgh van den Born, B Jeroen Klevering, Marta de Castro-Miró, Karin W Littink, Kentar Arimadyo, Maleeha Azam, Volkan Yazar, Marijke N Zonneveld, Constantin C Paun, Anna M Siemiatkowska, Tim M Strom, Jayne Y Hehir-Kwa, Hester Y Kroes, Jan-Tjeerd H N de Faber, Mary van Schooneveld, John R Heckenlively, Carel B Hoyng, Anneke I den Hollander and Frans P M Cremers. High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative for autosomal recessive RP in the Dutch population. Invest Ophthalmol Vis Sci () (2011) PMID 21217109.
  • Mundhofir FE, Winarni TI, van Bon BW, Aminah S, Nillesen WM, Merkx G, Smeets D, Hamel BC, Faradz SM, Yntema HG. A cytogenetic study in a large population of intellectually disabled Indonesians. Genet Test Mol Biomarkers. 2012 May;16(5):412-7. Epub 2011 Dec 22.
  • Winarni TI, Utari A, Mundhofir FE, Tong T, Durbin-Johnson B, Faradz SM, Tassone F. Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening. Genet Test Mol Biomarkers. 2012 Mar;16(3):162-6. Epub 2011 Oct 11.
  • Tri Indah Winarni, Weerasak Conchaiya, Tanjung Ayu Sumekar, Paul Ashwood, Guadalupe Mendoza Morales, Flora Tassone, Danh V. Nguyen, Sultana M.H. Faradz, Judy Van de Water, Kylee Cook, Alyssa Hamlin, Yi Mu, Paul J. Hagerman and Randi J. Hegerman. Immune-mediated disorders among women carriers of fragile X premutation alleles. Am J Med Genet A. 2012 Oct;158A(10):2473-81.
  • Farmaditya E.P. Mundhofir, Dominique Smeets, Willy Nillesen, Tri Indah Winarni, Helger G. Yntema, Nicole de Leeuw, Ben C.J Hamel, Sultana M.H. Faradz, Bregje W.M. van Bon. Monosomy 9pter and trisomi 9q34.11qter in two sisters due to a maternal pericentric inversion. Gene. 2012 Dec 15;511(2):451-4.
  • Siemiatkowska AM, Astuti GD, Arimadyo K, den Hollander AI, Faradz SM, Cremers FP, Collin RW. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. Mol Vis. 2012;18:2411-9.
  • Michels M, van der Ven AJ, Djamiatun K, Fijnheer R, de Groot PG, Griffioen AW, Sebastian S, Faradz SM, de Mast Q. Imbalance of angiopoietin-1 and angiopoetin-2 in severe dengue and relationship with thrombocytopenia, endothelial activation, and vascular stability. Am J Trop Med Hyg. 2012 Nov;87(5):943-946.
  • Kis Djamiatun, Andre J.A.M van der Ven, Philip G. de Groot, Sultana M.H. Faradz, Hapsari DEAH, Wil M.V. Dolmans, Silvie Sebastian, Rob  Fijnheer, and Quirijn de Mast. Severe dengue is associated with consumption of von Willebrand factor and its cleaving enzyme ADAMTS-13. PLoS Negl Trop Dis. 2012;6(5):e1628.
  • Juniarto AZ, van der Zwan YG, Santosa A, Hersmus R, de Jong FH, Olmer R, Bruggenwirth HT, Themmen AP, Wolffenbuttel KP, Looijenga LH, Faradz SM, Drop SL. Application of the new classification on patients with a disorder of sex development in indonesia. Int J Endocrinol. 2012;2012:237084.
  • Tri Indah Winarni, Weerasak Chonchaiya, Evan Adams, Jacky Au, Yi Mu, Susan M. Rivera, Danh V. Nguyen, and Randi J. Hagerman. Sertraline may improve language developmental trajectory in young children with fragile X syndrome: a retrospective chart review. Autism Res Treat. 2012;2012:104317.
  • Farmaditya E. P.Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, and Bregje W.M. van Bon. Case report mowat-Wilson syndrome: the first clinical and molecular report of an Indonesian patient. Case Reports in Genetics Volume 2012, Article ID 949507, 3 pages.
  • Mundhofir FEP, Winarni TI, Nillesen W, van Bon BWM, Schepens M, Ruiterkamp-Versteeg M, Hamel BCJ, Yntema HG, Faradz SMH. Prevalence of fragile X syndrome in males and females in Indonesia. World J Med Genet 2012; 2(3): 15-22.
  • Tri Indah Winarni, Andrea Schneider, Mariya Borodyanskara, and Randi J. Hagerman. Early Intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile X syndrome. Case Reports in Genetics, Volume 2012, Article ID 280813, 4 pages.
  • Sugiri, Sefri Noventi, Ichiro Hisatome, Udin Bahrudin. Carbohydrate diet links to higher risk of significant coronary artery disease in young Indonesian patients: Cardiometabolic Investigation study. Biomedical Research 2012; 23 (2): 155-161.
  • Achmad Zulfa Juniarto, Gerard Noppe, Nani Maharani, Erica van den Akker, Rudy Susanto, Sultana MH Faradz, Frank H. de Jong and Stenvert L.S. Drop. Salivary 17-hydroxyprogesterone (17-OHP) and androstenedione in monitoring efficacy of treatment among Indonesian congenital adrenal hyperplasia patients. JAFES  Vol. 27 No. 2 November 2012.
  • Liu Y, Winarni TI, Zhang L, Tassone F, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet. 2013 Jul;84(1):74-7.
  • TI Winarni, FEP Mundhofir, A Ediati, M. Belladona, WM Nillesen, HG Yntema, BCJ Hamel, SMH Faradz, and RJ Hagerman. The Fragile-X associated tremor ataxia syndrome (FXTAS) in Indonesia. Clin Genet. 2013 Mar;83(3):263-8.
  • Mary Jacena S. Leigh, MD, Danh V. Nguyen, PhD, Yi Mu, MS, Tri I. Winarni, MD, Andrea Schneider, PhD, Tasleem Chechi, BS, Jonathan Polussa, BS, Paul Doucet, BA, Flora Tassone, PhD, Susan M. Rivera, PhD, David Hessl, PhD, Randi J. Hagerman, MD. A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile X syndrome. J Dev Behav Pediatr 34:147–155, 2013.
  • Zayts O, Sarangi S, Thong MK, Chung BH, Lo IF, Kan AS, Lee JM, Padilla CD, Cutiongco-de la Paz EM, Faradz SM, Wasant P. J. Genetic counseling/consultation in South-East Asia: a report from the workshop at the 10th Asia pacific conference on human genetics. Genet Couns. 2013 Dec;22(6):917-24.
  • Mundhofir FE, Nillesen WM, Van Bon BW, Smeets D, Pfundt R, van de Ven-Schobers G, Ruiterkamp-Versteeg M, Winarni TI, Hamel BC, Yntema HG, Faradz SM. Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study. Indian J Hum Genet. 2013 Apr;19(2):171-8.
  • Winarni TI, Utari A, Mundhofir FE, Hagerman RJ, Faradz SM. Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia. Clin Genet. 2013 Dec;84(6):577-80.
  • Elfferich P, van Royen ME, van de Wijngaart DJ, Trapman J, Drop SL, van den Akker EL, Lusher SJ, Bosch R, Bunch T, Hughes IA, Houtsmuller AB, Cools M, Faradz SM, Bisschop PH, Bunck MC, Oostdijk W, Brüggenwirth HT, Brinkmann AO. Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome. Sex Dev. 2013;7(5):223-34.
  • Juniarto AZ, Setyawati BA, Miranti IP, Santosa A, Hersmus R, Stoop H, Cools M, Oosterhuis JW, Drop SL, Faradz SM, Looijenga LH. Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia). J Clin Pathol. 2013 Mar;66(3):198-204.
  • Maria Mexitalia, Taro Yamauchi, Agustini Utari, Damayanti R Sjarif, Hertanto W Subagio, Agustinus Soemantri,Takafumi Ishida. The role of uncoupling protein 2 and 3 genes polymorphism and energy expenditure in obese Indonesian children. J Pediatr Endocrinol Metab 2013 ;26(5-6):441-7.
  • Farmaditya EP Mundhofir, MD, PhD, Erik A Sistermans, PhD, Sultana MH Faradz, MD, PhD, Ben CJ Hamel, MD, PhD. p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. Singapore Med J 2013; 54(3): e72-e75 doi:10.11622/smedj.2013055.
  • Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I, Faradz SM, Amiri K, Shaheen H, Polli R, Murillo-Bonilla L, Silva Arevalo Gde J, Cogram P, Murgia A, Tassone F. Distribution of AGG interruption patterns within nine world populations. Intractable Rare Dis Res. 2014 Nov;3(4):153-61.
  • Ediati A, Faradz SM, Juniarto AZ, van der Ende J, Drop SL, Dessens AB. Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development. J Psychosom Res. 2014 Dec 15. pii: S0022-3999(14)00443-7.
  • Siemiatkowska AM, van den Born LI, van Genderen MM, Bertelsen M, Zobor D, Rohrschneider K, van Huet RA, Nurohmah S, Klevering BJ, Kohl S, Faradz SM, Rosenberg T, den Hollander AI, Collin RW, Cremers FP. Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. Mol Vis. 2014 Jun 2;20:753-9.
  • Zada A, Mundhofir FE, Pfundt R, Leijsten N, Nillesen W, Faradz SM, de Leeuw N. A rare, recurrent, de novo 14q32.2q32.31 microdeletion of 1.1 Mb in a 20-year-old female patient with a maternal UPD(14)-like phenotype and intellectual disability. Case Rep Genet. 2014;2014:530134.
  • Muzar Z, Lozano R, Schneider A, Adams PE, Faradz SM, Tassone F, Hagerman RJ. Methadone use in a male with the FMRI premutation and FXTAS. Am J Med Genet A. 2015 Apr 21.
  • Ediati A, Juniarto AZ, Birnie E, Drop SL, Faradz SM, Dessens AB. Gender development in Indonesian children, adolescents, and adults with disorders of sex development. Arch Sex Behav. 2015 Mar 27.
  • Lim GX, Loo YL, Mundho R FE, Cayami FK, Faradz SM, Rajan-Babu IS, Chong SS, Koh YY, Guan M. Validation of a commercially available screening tool for the rapid identification of CGG trinucleotide repeat expansions in FMR1. J Mol Diagn. 2015 May;17(3):302-14.
  • Eggers S, Smith KR, Bahlo M, Looijenga LH, Drop SL, Juniarto ZA, Harley VR, Koopman P, Faradz SM, Sinclair AH. Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1. Eur J Hum Genet. 2015 Apr;23(4):486-93.
  • Ediati A, Juniarto AZ, Birnie E, Drop SL, Faradz SM, Dessens AB. Body image and sexuality in Indonesian adults with a disorder of sex development (DSD). J Sex Res. 2015;52(1):15-29.
  • Dimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, Fop van Kooten, Dian Atmaja, Eline Overwater, Ferdy K Cayami, Ellen S Regalado, René van Uffelen, Hanka Venselaar, Sultana M H Faradz, Gerrit Vriend, Marjan M Weiss, Erik A Sistermans, Alessandra Maugeri, Dianna M Milewicz, Gerard Pals, Fleur S van Dijk. SMAD2 mutations are associated with arterial aneurysms and dissections. Hum Mutat 2015 Dec 10;36(12):1145-9.
  • Ralph W N Slijkerman, Fei Song, Galuh D N Astuti, Martijn A Huynen, Erwin van Wijk, Knut Stieger, Rob W J Collin. The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies. Prog Retin Eye Res 2015 Sep 1;48:137-59.
  • Galuh D N Astuti, Vincent Sun, Miriam Bauwens, Ditta Zobor, Bart P Leroy, Amer Omar, Bernhard Jurklies, Irma Lopez,Huanan Ren, Volkan Yazar, Christian Hamel, Ulrich Kellner, Bernd Wissinger, Susanne Kohl, Elfride De Baere, Rob W J Collin, Robert K Koenekoop. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti’s retinal dystrophy. Mol Genet Genomic Med 2015 Jan 15;3(1):14-29.
  • Utami SB, Mahati E, Li P, Maharani N, Ikeda N, Bahrudin U, Munemura C, Hosoyamada M, Yamamoto Y, Yoshida A, Nakayama Y,Higaki K, Nanba E, Ninomiya H, Shirayoshi Y, Ichida K, Yamamoto K, Hosoya T, Hisatome I. Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat. Clin Exp Nephrol. 2015 Aug;19(4):576-84.
  • Nani Maharani, Ya Kuang Ting, Jidong Cheng, Akira Hasegawa, Yasutaka Kurata, Peili Li, Yuji Nakayama, Haruaki Ninomiya, Nobuhito Ikeda, Kumi Morikawa, Kazuhiro Yamamoto, Naomasa Makita, Takeshi Yamashita, Yasuaki Shirayoshi, Ichiro Hisatome. Molecular mechanisms underlying urate-induced enhancement of Kv1.5 channel expression in HL-1 atrial myocytes. Circ J 2015 16;79(12):2659-68. Epub 2015 Oct 16.
  • Peili Li, Yasutaka Kurata, Nani Maharani, Endang Mahati, Katsumi Higaki, Akira Hasegawa, Yasuaki Shirayoshi, Akio Yoshida, Tatehito Kondo, Youichi Kurozawa, Kazuhiro Yamamoto, Haruaki Ninomiya, Ichiro Hisatome. E3 ligase CHIP and Hsc70 regulate Kv1.5 protein expression and function in mammalian cells. J Mol Cell Cardiol 2015 Sep 29;86:138-46. Epub 2015 Jul 29.
  • Shinobu Sugihara, Ichiro Hisatome, Masanari Kuwabara, Koichiro Niwa, Nani Maharani, Masahiko Kato, Kazuhide Ogino, Toshihiro Hamada, Haruaki Ninomiya, Yukihito Higashi, Kimiyoshi Ichida, Kazuhiro Yamamoto. Depletion of uric acid due to SLC22A12 (URAT1) loss-of-function mutation causes endothelial dysfunction in hypouricemia. Circ J 2015 23;79(5):1125-32. Epub 2015 Feb 23.
  • Muflihatul Muniroh, Noureen Khan, Chihaya Koriyama, Suminori Akiba, Christoph F A Vogel, Megumi Yamamoto. Suppression of methylmercury-induced IL-6 and MCP-1 expressions by N-acetylcysteine in U-87MG human astrocytoma cells. Life Sci 2015 Aug 23;134:16-21. Epub 2015 May 23.
  • Dodik T Pramukarso, Sultana M H Faradz, Stefani Sari, Soeharyo Hadisaputro. Association between methylenetetrahydrofolate reductase (MTHFR) polymorphism and carotid intima medial thickness progression in post ischaemic stroke patient. Ann Transl Med 2015 Dec;3(21):324.
  • Tri Indah Winarni, Andrea Schneider, Neera Ghaziuddin, Andreea Seritan, Randi J Hagerman. Psychosis and catatonia in fragile X: case report and literature review. Intractable Rare Dis Res 2015 Aug;4(3):139-46
  • Galuh D N Astuti, Mette Bertelsen, Markus N Preising, Muhammad Ajmal, Birgit Lorenz, Sultana M H Faradz, Raheel Qamar, Rob W J Collin, Thomas Rosenberg, Frans P M Cremers. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. Eur J Hum Genet. 2016 Jul;24(7):1071-9.
  • Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT,Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia. Clin Endocrinol (Oxf). 2016 Aug;85(2):247-57.
  • Farmaditya EP Mundhofir, Catharina Endah Wulandari, Yan Wisnu Prajoko, Tri Indah Winarni. BRCA1 gene mutation screening for the hereditary breast and/or ovarian cancer syndrome in breast cancer cases: a first high resolution DNA melting analysis in Indonesia. Asian Pac J Cancer Prev 2016 ;17(3):1539-46.
  • Endo R, Bahrudin U, Notsu T, Tanno S, Onohara T, Yamaguchi S, Ikeda N, Surastri B, Nakayama Y, Ninomiya H,Shirayoshi Y, Inagaki Y, Yamamoto K, Yoshida A, Hisatome I. Carvedilol suppresses apoptosis and ion channel remodelling of HL-1 cardiac myocytes expressing E334K cMyBPC. Drug Res (Stuttg). 2016 Mar;66(3):126-9.
  • Annastasia Ediati, Nani Maharani, Agustini Utari. Sociocultural aspects of disorders of sex development. Birth Defects Res C Embryo Today 2016 Dec;108(4):380-383.
  • Endang Mahati, Peili Li, Yasutaka Kurata, Nani Maharani, Nobuhito Ikeda, Shinji Sakata, Kazuyoshi Ogura, Junichiro Miake, Takeshi Aiba, Wataru Shimizu, Naoe Nakasone, Haruaki Ninomiya, Katsumi Higaki, Kazuhiro Yamamoto, Akira Nakai, Yasuaki Shirayoshi, Ichiro Hisatome. M3 muscarinic receptor signaling stabilizes a novel mutant human ether-a-go-go-related gene channel protein via phosphorylation of heat shock factor 1 in transfected cells. Circ J 2016 Nov 1;80(12):2443-2452. Epub 2016 Nov 1.
  • Nani Maharani, Masanari Kuwabara, Ichiro Hisatome. Hyperuricemia and atrial fibrillation. Int Heart J 2016 Jul 11;57(4):395-9. Epub 2016 Jul 11.
  • Megumi Yamamoto, Noureen Khan, Muflihatul Muniroh, Eriko Motomura, Rie Yanagisawa, Takami Matsuyama, Christoph F A Vogel. Activation of interleukin-6 and -8 expressions by methylmercury in human U937 macrophages involves RelA and p50. J Appl Toxicol. 2016 Dec 5. Epub 2016 Dec 5.
  • Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana M H Faradz. Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys. Hum Genomics. 2017 Feb 16;11(1). Epub 2017 Feb 16.
  • Megumi Yamamoto, Noureen Khan, Muflihatul Muniroh, Eriko Motomura, Rie Yanagisawa, Takami Matsuyama, Christoph F A Vogel. Activation of interleukin-6 and -8 expressions by methylmercury in human U937 macrophages involves RelA and p50. J Appl Toxicol. 2017 May 5;37(5):611-620. Epub 2016 Dec 5.
  • Grace X. Y. Lim, Minli Yeo, Yvonne Y. Koh, Tri Indah Winarni, Indhu-Shree Rajan-babu, Samuel S. Chong, Sultana M. H. Faradz, Ming Guan. Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR-1 gene. PLoS One. 2017 Mar 9;12(3).
  • Annastasia Ediati, Agustini Utari. Adolescents’s anxiety in the coastal region of Central Java, Indonesia. Adv. Sci. Lett2017 ; 23(4): 3454-3456.
  • Annastasia Ediati, A Zulfa Juniarto, Erwin Birnie, Jolanda Okkerse, Amy Wisniewski, Stenvert Drop, Sultana MH Faradz, Arianne Dessens. Social stigamatisation in late identified patients with disorders of sex development in Indonesia. BMJ Paediatrics Open 2017;1:e000130.
  • Laurino MY, Leppig KA, Abad PJ, Cham B, Chu YWY, Kejriwal S, Lee JMH, Sternen DL, Thompson JK, Burgess MJ, Chien S, Elackatt N, Lim JY, Sura T, Faradz S, Padilla C, Paz ECD, Nauphar D, Nguyen KN, Zayts O, Vu DC, Thong MK. A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia. J Genet Couns. 2017 Jul 11. doi: 10.1007/s10897-017-0115-6.
  • Mitayani, Winarto, Winarni TI.  Association of PDGFRA Gene Polymorphisms and Early-onset Myopia in South Sumatera, Indonesia. Asian Journal of Opthalmology. 2017, vol 15 (4). ISSN 1560-2133
  • Winarni, T. I., Aziman, M. A., Andar, A. A., & Pawitra, I. The Effect of Early Mosquito Insecticides Exposure on SpraqueDawley Rat Testis: A Histopathological Feature Towards Malignancy? IOP Conference Series: Earth and Environmental Science 55 (2017) 012023.
  • Robevska Gvan den Bergen JAOhnesorg TEggers SHanna CHersmus RThompson EMBaxendale AVerge CFLafferty ARMarzuki NSSantosa AListyasari NARiedl SWarne GLooijenga LFaradz SAyers KLSinclair AH. Functional characterisation of novel NR5A1 variants reveals multiple complex roles in Disorders of Sex Development. Hum Mutat. 2018 Jan;39(1):124-139. doi: 10.1002/humu.23354. Epub 2017 Nov 2.
  • Nani Maharani, Amallia N Setyawati, Sodiqur Rifqi, Muhammad A Sungkar, Gerard Pals, Sultana MH Faradz. Variable Major Phenotypes in Familial Marfan Syndrome in Indonesia: a Case Repot. Ann Transl Med 2017;5(Suppl 2):AB081.
  • A Zulfa Juniarto, Maria Ulfah, Mahayu Dewi Ariani, Agustini Utari, Sultana MH Faradz. Phenotypic variation of 46, xx late identified congenital adrenal hyperplasia among Indonesians. Accepted in Journal of the Asean Federation of Endocrine Societies (JAFES) on 9 Jan 2018.