| Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort S Eggers, S Sadedin, JA Van Den Bergen, G Robevska, T Ohnesorg, ... Genome biology 17, 1-21, 2016 | 320 | 2016 |
| Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads M Cools, H Stoop, AMF Kersemaekers, SLS Drop, KP Wolffenbuttel, ... The Journal of Clinical Endocrinology & Metabolism 91 (6), 2404-2413, 2006 | 218 | 2006 |
| Tumor risk in disorders of sex development J Pleskacova, R Hersmus, JW Oosterhuis, BA Setyawati, SM Faradz, ... Sexual Development 4 (4-5), 259-269, 2010 | 195 | 2010 |
| Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures A Utari, W Chonchaiya, SM Rivera, A Schneider, RJ Hagerman, ... American journal on intellectual and developmental disabilities 115 (5), 433-443, 2010 | 125 | 2010 |
| Immune‐mediated disorders among women carriers of fragile X premutation alleles TI Winarni, W Chonchaiya, TA Sumekar, P Ashwood, GM Morales, ... American journal of medical genetics Part A 158 (10), 2473-2481, 2012 | 105 | 2012 |
| SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections D Micha, D Guo, Y Hilhorst‐Hofstee, F van Kooten, D Atmaja, E Overwater, ... Human mutation 36 (12), 1145-1149, 2015 | 101 | 2015 |
| Imbalance of angiopoietin-1 and angiopoetin-2 in severe dengue and relationship with thrombocytopenia, endothelial activation, and vascular stability M Michels, AJAM van der Ven, K Djamiatun, R Fijnheer, PG de Groot, ... The American journal of tropical medicine and hygiene 87 (5), 943, 2012 | 97 | 2012 |
| Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark GDN Astuti, M Bertelsen, MN Preising, M Ajmal, B Lorenz, SMH Faradz, ... European Journal of Human Genetics 24 (7), 1071-1079, 2016 | 84 | 2016 |
| Severe dengue is associated with consumption of von Willebrand factor and its cleaving enzyme ADAMTS-13 K Djamiatun, AJAM Van der Ven, PG de Groot, SMH Faradz, D Hapsari, ... PLoS neglected tropical diseases 6 (5), e1628, 2012 | 83 | 2012 |
| Social stigmatisation in late identified patients with disorders of sex development in Indonesia A Ediati, AZ Juniarto, E Birnie, J Okkerse, A Wisniewski, S Drop, ... BMJ Paediatrics Open 1 (1), 2017 | 52 | 2017 |
| Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development A Ediati, SMH Faradz, AZ Juniarto, J van der Ende, SLS Drop, ... Journal of Psychosomatic Research 79 (1), 76-84, 2015 | 52 | 2015 |
| Gender development in Indonesian children, adolescents, and adults with disorders of sex development A Ediati, AZ Juniarto, E Birnie, SLS Drop, SMH Faradz, AB Dessens Archives of Sexual Behavior 44, 1339-1361, 2015 | 51 | 2015 |
| Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping AM Siemiatkowska, K Arimadyo, LM Moruz, GDN Astuti, M de Castro-Miro, ... Molecular vision 17, 3013, 2011 | 51 | 2011 |
| Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development G Robevska, JA Van Den Bergen, T Ohnesorg, S Eggers, C Hanna, ... Human mutation 39 (1), 124-139, 2018 | 48 | 2018 |
| Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia AZ Juniarto, YG van der Zwan, A Santosa, MD Ariani, S Eggers, ... Clinical Endocrinology 85 (2), 247-257, 2016 | 46 | 2016 |
| Body image and sexuality in Indonesian adults with a disorder of sex development (DSD) A Ediati, AZ Juniarto, E Birnie, SLS Drop, SMH Faradz, AB Dessens The Journal of Sex Research 52 (1), 15-29, 2015 | 42 | 2015 |
| Increased PAI-1 plasma levels and risk of death from dengue: no association with the 4G/5G promoter polymorphism ATA Mairuhu, TE Setiati, P Koraka, CE Hack, A Leyte, SMH Faradz, ... Thrombosis Journal 3, 1-8, 2005 | 41 | 2005 |
| Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 S Eggers, KR Smith, M Bahlo, LHJ Looijenga, SLS Drop, ZA Juniarto, ... European Journal of Human Genetics 23 (4), 486-493, 2015 | 40 | 2015 |
| High plasma mid-regional pro-adrenomedullin levels in children with severe dengue virus infections M Michels, K Djamiatun, SMH Faradz, MMJF Koenders, Q de Mast, ... Journal of clinical virology 50 (1), 8-12, 2011 | 39 | 2011 |
| A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient ED Setijowati, FS Van Dijk, JM Cobben, RR Van Rijn, EA Sistermans, ... European journal of medical genetics 55 (1), 17-21, 2012 | 35 | 2012 |
Farmaditya Eka Putra MundhofirResearch Staff at Center for Biomedical Research, Diponegoro University在 fk.undip.ac.id 的电子邮件经过验证
