Yunia Sribudiani

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Hongsheng Gui, Duco Schriemer, William Cheng et al. · Genome biology · 2017 · 91 citations · Full text

Potential role of ACE2-related microRNAs in COVID-19-associated nephropathy

Ahmedz Widiasta, Yunia Sribudiani, Husna Nugrahapraja et al. · Non-coding RNA Research · 2020 · 79 citations · Full text

<i>ACTG2</i>variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Danny Halim, Robert M.W. Hofstra, Luca Signorile et al. · Human Molecular Genetics · 2015 · 67 citations

Developmental Biology, Molecular Physiology, Medicine +13

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

Christine S. van der Werf, Yunia Sribudiani, Matthew Carroll et al. · Genetics in Medicine · 2012 · 41 citations · Full text

Functional Gastrointestinal Disorder, Mendelian Disorder, Male Patients +5

Variants in RET Associated With Hirschsprung's Disease Affect Binding of Transcription Factors and Gene Expression

Yunia Sribudiani, Marco Metzger, Jan Osinga et al. · Gastroenterology · 2010 · 38 citations · Full text

Systems Biology, Disease Affect Binding, Genetic Disorder +7