Publications by authors named "Velibor Tasic"

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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Elise Schaefer, Velibor Tasic

Am J Hum Genet· December 2025

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Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken, Velibor Tasic

Nat Commun· October 2025

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Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken, Velibor Tasic

Nat Commun· August 2025

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Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.
Lea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, Nils David Mertens, Steve Seltzsam, Velibor Tasic

Genet Med· July 2025

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A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency.
Sung Kweon Cho, Guenter Schwarz, Velibor Tasic, Michaela Křížková, Jakub Krijt

Eur J Pediatr· July 2025

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Survey of legislative frameworks and national recommendations governing paediatric maintenance haemodialysis in Europe.
Enzo Vedrine, Claus Peter Schmitt, Johan Vande Walle, Diamant Shtiza, Klaus Arbeiter, Velibor Tasic

Pediatr Nephrol· June 2025

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-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.
Bastian M Krüger, Annika Jens, Anna Neuhaus, Jasmina Ćomić, Riccardo Berutti, Velibor Tasic

Kidney Int Rep· May 2025

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Trio Exome Sequencing in VACTERL Association.
Jasmina Ćomić, Erik Tilch, Korbinian M Riedhammer, Melanie Brugger, Theresa Brunet, Velibor Tasic

Kidney Int Rep· March 2025

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Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.
Esra Kesdiren, Helge Martens, Frank Brand, Lina Werfel, Lukas Wedekind, Velibor Tasic

Eur J Hum Genet· January 2025

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Achievements, priorities and strategies in pediatric nephrology in Europe: need for unifying approaches or acceptance of differences?
Jochen Ehrich, Velibor Tasic, Vidar O Edvardsson, Evgenia Preka, Larisa Prikhodina

Front Pediatr· December 2024

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Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding deletions.
Konstantin Deutsch, Verena Klämbt, Thomas M Kitzler, Tilman Jobst-Schwan, Ronen Schneider, Velibor Tasic

Genes Dis· September 2024

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Pathogenic PHIP Variants are Variably Associated With CAKUT.
Jonathan de Fallois, Tobias Sieckmann, Ria Schönauer, Friederike Petzold, Johannes Münch, Velibor Tasic

Kidney Int Rep· August 2024

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Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Marcin Kołbuc, Mateusz F Kołek, Rafał Motyka, Beata Bieniaś, Sandra Habbig, Velibor Tasic

Pediatr Nephrol· June 2024

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Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Korbinian M Riedhammer, Hannes Simmendinger, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini

Clin Genet· April 2024

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Diversity of kidney care referral pathways in national child health systems of 48 European countries.
Velibor Tasic, Vidar O Edvardsson, Evgenia Preka, Larisa Prikhodina, Constantinos J Stefanidis

Front Pediatr· January 2024

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Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Jeremiah Martino, Qingxue Liu, Katarina Vukojevic, Juntao Ke, Tze Y Lim, Velibor Tasic

Genet Med· December 2023

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Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
Bojan Teov, Aleksandra Janchevska, Ardiana Beqiri-Jasari, Velibor Tasic, Goran Kungulovski

Pril (Makedon Akad Nauk Umet Odd Med Nauki)· December 2023

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Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Sophia Schneider, Luca Schierbaum, Wessel A C Burger, Steve Seltzsam, Chunyan Wang, Velibor Tasic

Am J Med Genet A· August 2023

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The Rationale of Complement Blockade of the MCP Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review.
Daniel Turudic, Danka Pokrajac, Velibor Tasic, Dino Kasumovic, Zoltan Prohaszka

Int J Mol Sci· August 2023

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Peripheral Insulin Edema and Pericardial Effusion in a 12-Year-Old Newly Diagnosed Girl with Type 1 Diabetes.
Aleksandra Janchevska, Valentina Jovanovska, Olivera Jordanova, Ardiana Beqiri-Jashari, Marina Krstevska-Konstantinova, Velibor Tasic

Pril (Makedon Akad Nauk Umet Odd Med Nauki)· July 2023

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Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Korbinian M Riedhammer, Jasmina Ćomić, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini

Eur J Hum Genet· June 2023

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Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.
Dina F Ahram, Tze Y Lim, Juntao Ke, Gina Jin, Miguel Verbitsky, Velibor Tasic

J Am Soc Nephrol· June 2023

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Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
Alexandra Barry, Michelle T McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Velibor Tasic

Nat Commun· April 2023

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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Amar J Majmundar, Eugen Widmeier, John F Heneghan, Ankana Daga, Chen-Han Wilfred Wu, Velibor Tasic

Genet Med· March 2023

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Identification of a dysfunctional exon-skipping splice variant in / causal for renal hypouricemia type 2.
Yu Toyoda, Sung Kweon Cho, Velibor Tasic, Kateřina Pavelcová, Jana Bohatá

Front Genet· January 2023

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