Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience.
Gragnaniello V et al.
International Journal of Neonatal Screening, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China.
Lin W et al.
Molecular Genetics and Metabolism Reports, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Gubbels CS 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
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang T et al.
Frontiers in Genetics, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Next generation sequencing as a follow-up test in an expanded newborn screening programme.
Smon A et al.
Clinical Biochemistry, 2018
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
Fonseca H et al.
Gene, 2016
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
Forsyth R et al.
Molecular Genetics and Metabolism, 2016
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Shepard PJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2012
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Morscher RJ et al.
Molecular Genetics and Metabolism, 2012
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Cho SY et al.
Clinical Genetics, 2012
An unanticipated architecture of the 750-kDa α6β6 holoenzyme of 3-methylcrotonyl-CoA carboxylase.
Huang CS et al.
Nature, 2011
The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin.
Friebel D et al.
Neuropediatrics, 2006
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Dantas MF et al.
Human Mutation, 2005
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.
Baumgartner MR
Journal of Inherited Metabolic Disease, 2005
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
Baumgartner MR et al.
American Journal of Human Genetics, 2004
Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.
Desviat LR et al.
Molecular Genetics and Metabolism, 2003
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
Holzinger A et al.
Human Molecular Genetics, 2001
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
Gallardo ME et al.
American Journal of Human Genetics, 2001
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
Baumgartner MR et al.
The Journal of Clinical Investigation, 2001