| Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model MM Alves, Y Sribudiani, RWW Brouwer, J Amiel, G Antiñolo, S Borrego, ... Developmental biology 382 (1), 320-329, 2013 | 150 | 2013 |
| Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes H Gui, D Schriemer, WW Cheng, RK Chauhan, G Antiňolo, C Berrios, ... Genome biology 18, 1-13, 2017 | 82 | 2017 |
| Potential role of ACE2-related microRNAs in COVID-19-associated nephropathy A Widiasta, Y Sribudiani, H Nugrahapraja, D Hilmanto, N Sekarwana, ... Non-coding RNA research 5 (4), 153-166, 2020 | 76 | 2020 |
| ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome D Halim, RMW Hofstra, L Signorile, RM Verdijk, CS van der Werf, ... Human Molecular Genetics 25 (3), 571-583, 2016 | 73 | 2016 |
| Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression Y Sribudiani, M Metzger, J Osinga, A Rey, AJ Burns, N Thapar, ... Gastroenterology 140 (2), 572-582. e2, 2011 | 59 | 2011 |
| Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations CS Van Der Werf, Y Sribudiani, JBGM Verheij, M Carroll, E O’Loughlin, ... Genetics in medicine 15 (4), 310-313, 2013 | 44 | 2013 |
| Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes D Schriemer, Y Sribudiani, A IJpma, D Natarajan, KC MacKenzie, ... Developmental biology 416 (1), 255-265, 2016 | 36 | 2016 |
| Fine mapping of the 9q31 Hirschsprung’s disease locus CS Tang, Y Sribudiani, XP Miao, AR De Vries, G Burzynski, MT So, ... Human genetics 127, 675-683, 2010 | 31 | 2010 |
| Identification of variants in RET and IHH pathway members in a large family with history of Hirschsprung disease Y Sribudiani, RK Chauhan, MM Alves, L Petrova, E Brosens, C Harrison, ... Gastroenterology 155 (1), 118-129. e6, 2018 | 30 | 2018 |
| The Omicron variant of concern: The genomics, diagnostics, and clinical characteristics in children D Setiabudi, Y Sribudiani, K Hermawan, B Andriyoko, HM Nataprawira Frontiers in pediatrics 10, 898463, 2022 | 29 | 2022 |
| Bi-allelic variations of SMO in humans cause a broad spectrum of developmental anomalies due to abnormal hedgehog signaling TL Le, Y Sribudiani, X Dong, C Huber, C Kois, G Baujat, CT Gordon, ... The American Journal of Human Genetics 106 (6), 779-792, 2020 | 26 | 2020 |
| Association of first trimester maternal vitamin D, ferritin and hemoglobin level with third trimester fetal biometry: result from cohort study on vitamin D status and its … RTD Judistiani, TH Madjid, S Irianti, YA Natalia, AR Indrati, M Ghozali, ... BMC pregnancy and childbirth 19, 1-8, 2019 | 25 | 2019 |
| RET and EDNRB mutation screening in patients with Hirschsprung disease: functional studies and its implications for genetic counseling T Widowati, S Melhem, SY Patria, BM De Graaf, RJ Sinke, M Viel, ... European Journal of Human Genetics 24 (6), 823-829, 2016 | 25 | 2016 |
| Pathways systematically associated to Hirschsprung’s disease RM Fernández, M Bleda, B Luzón-Toro, L García-Alonso, S Arnold, ... Orphanet journal of rare diseases 8, 1-11, 2013 | 23 | 2013 |
| Association of colecalciferol, ferritin, and anemia among pregnant women: result from cohort study on vitamin D status and its impact during pregnancy and childhood in Indonesia RTD Judistiani, L Gumilang, SA Nirmala, S Irianti, D Wirhana, I Permana, ... Anemia 2018, 2018 | 22 | 2018 |
| CLMP is essential for intestinal development, but does not play a key role in cellular processes involved in intestinal epithelial development CS van der Werf, NH Hsiao, S Conroy, J Paredes, AS Ribeiro, ... PloS one 8 (2), e54649, 2013 | 17 | 2013 |
| G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population DA Wisnumurti, Y Sribudiani, RM Porsch, AM Maskoen, ... BMC pediatrics 19, 1-8, 2019 | 16 | 2019 |
| Literature review: enteric nervous system development, genetic and epigenetic regulation in the etiology of Hirschsprung's disease R Diposarosa, NA Bustam, E Sahiratmadja, PS Susanto, Y Sribudiani Heliyon 7 (6), 2021 | 13 | 2021 |
| The incidence and mortality of childhood acute lymphoblastic leukemia in Indonesia: A systematic review and meta-analysis D Garniasih, S Susanah, Y Sribudiani, D Hilmanto PLoS One 17 (6), e0269706, 2022 | 12 | 2022 |
| UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population DA Wisnumurti, Y Sribudiani, RM Porsch, AM Maskoen, LI Abdulhamied, ... BioMed Research International 2018, 2018 | 10 | 2018 |
Merce Garcia-BarceloThe University of Hong KongGeverifieerd e-mailadres voor hku.hk
