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

Hongsheng Gui, Duco Schriemer, William Cheng, +35

Genome biology

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

Ahmedz Widiasta, Yunia Sribudiani, Husna Nugrahapraja, +3

Non-coding RNA Research

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

Danny Halim, Robert M.W. Hofstra, Luca Signorile, +16

Human Molecular Genetics

Developmental BiologyMolecular PhysiologyMedicineEnteric Smooth MusclePathogenesis +11

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

Christine S. van der Werf, Yunia Sribudiani, Matthew Carroll, +6

Genetics in Medicine

Functional Gastrointestinal DisorderMendelian DisorderMale PatientsGastroenterologyPathology +3

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

Yunia Sribudiani, Marco Metzger, Jan Osinga, +4

Gastroenterology

Systems BiologyDisease Affect BindingGenetic DisorderGeneticsGene Characterization +5

Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes

Duco Schriemer, Yunia Sribudiani, Arne IJpma, +8

Developmental Biology

Cell LineageDevelopmental BiologyGeneticsGene ExpressionMedicine +4

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

Thuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, +29

The American Journal of Human Genetics

Knockout MouseAllelic VariantCell LineageDevelopmental BiologyDevelopmental Genetics +8

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease

Yunia Sribudiani, Rajendra Chauhan, Maria M. Alves, +17

Gastroenterology

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 impact during pregnancy and childhood in Indonesia

Raden Tina Dewi Judistiani, Tita Husnitawati Madjid, Setyorini Irianti, +7

BMC Pregnancy and Childbirth

CLMP Is Essential for Intestinal Development, but Does Not Play a Key Role in Cellular Processes Involved in Intestinal Epithelial Development

Christine S. van der Werf, Nai‐Hua Hsiao, Siobhan Conroy, +7

PLoS ONE

GastroenterologyIntestinal DevelopmentDigestive TractCellular PhysiologySignaling Pathway +17