Yunia Sribudiani
Yunia Sribudiani
Department Biomedical Science, Division of Biochemistry and Molecular Biology, Faculty of Medicine
Verified email at unpad.ac.id
Title
Cited by
Cited by
Year
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
1182013
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
562017
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
532011
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
512016
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
322013
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
282016
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
282010
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
172016
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
162013
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
142020
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
142013
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
132018
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
132018
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
102019
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
92018
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
62020
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
62019
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
62018
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
42020
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
22019
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