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 | 359 | 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 | 224 | 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 | 205 | 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 | 128 | 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 | 109 | 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 | 106 | 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 | 105 | 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 | 88 | 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 | 88 | 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 | 56 | 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 | 56 | 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 | 53 | 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 | 53 | 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 | 52 | 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 | 51 | 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 | 45 | 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 | 43 | 2011 |
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 | 41 | 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 |
Identification of candidate genes for Mayer-Rokitansky-Küster-Hauser syndrome using genomic approaches B Backhouse, C Hanna, G Robevska, J van den Bergen, E Pelosi, ... Sexual Development 13 (1), 26-34, 2019 | 40 | 2019 |