Yunia Sribudiani
Yunia Sribudiani
Department Biomedical Science, Division of Biochemistry and Molecular Biology, Faculty of Medicine
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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
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), 1-13, 2017
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
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
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
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
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 (6), 675-683, 2010
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
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), 1-11, 2013
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
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
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
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
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), 1-8, 2019
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
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
Epidermal growth factor and adenosine triphosphate induce natrium iodide symporter expression in breast cancer cell lines
A Elliyanti, AE Putra, Y Sribudiani, N Noormartany, JS Masjhur, ...
Open access Macedonian journal of medical sciences 7 (13), 2088, 2019
Description of mutation spectrum and polymorphism of Wilms' tumor 1 (WT1) gene in hypospadias patients in the Indonesian population
R Diposarosa, KO Pamungkas, Y Sribudiani, H Herman, LP Suciati, ...
Journal of pediatric urology 14 (3), 237. e1-237. e7, 2018
First trimester maternal vitamin D, ferritin, hemoglobin level and their associations with neonatal birthweight: Result from cohort study on vitamin D status and its impact …
T Yuniati, RT Judistiani, YA Natalia, S Irianti, TH Madjid, M Ghozali, ...
Journal of neonatal-perinatal medicine 13 (1), 63-69, 2020
G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population
DA Wisnumurti, Y Sribudiani, RM Porsch, AM Maskoen, ...
BMC pediatrics 19 (1), 1-8, 2019
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