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Yunia Sribudiani
Yunia Sribudiani
Department Biomedical Sciences, 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
1532013
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
842017
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
792020
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
762016
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
602011
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
452013
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
362016
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
352022
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
322010
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
302018
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
292020
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
262016
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
252019
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
232013
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 (1), 2047981, 2018
222018
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
202022
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
182021
G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population
DA Wisnumurti, Y Sribudiani, RM Porsch, AM Maskoen, ...
BMC pediatrics 19, 1-8, 2019
172019
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
172013
Iron Status in Newly Diagnosed β‐Thalassemia Major: High Rate of Iron Status due to Erythropoiesis Drive
S Susanah, LE Rakhmilla, M Ghozali, JO Trisaputra, O Moestopo, ...
BioMed Research International 2021 (1), 5560319, 2021
132021
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