Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Rapid screening of UPB1 gene variations by high resolution melting curve analysis.
Xu X et al.
Experimental and Therapeutic Medicine, 2021
HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.
Schön U et al.
Bmc Medical Genomics, 2021
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency.
Fang Y et al.
Medicine, 2019
[Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency].
Shu J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
Nakajima Y et al.
Journal of Inherited Metabolic Disease, 2014
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
van Kuilenburg AB et al.
Biochimica Et Biophysica Acta, 2012
Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.
Yaplito-Lee J et al.
Molecular Genetics and Metabolism, 2008
Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism.
Thomas HR et al.
Pharmacogenetics and Genomics, 2008
Beta-ureidopropionase deficiency presenting with febrile status epilepticus.
Assmann BE et al.
Epilepsia, 2006
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
van Kuilenburg AB et al.
Nucleosides, Nucleotides & Nucleic Acids, 2006
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
van Kuilenburg AB et al.
Human Molecular Genetics, 2004