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SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.
- Published in:
- Journal of Personalized Medicine, 2024, v. 14, n. 6, p. 648, doi. 10.3390/jpm14060648
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- Article
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.
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- Molecular Syndromology, 2023, v. 14, n. 4, p. 347, doi. 10.1159/000529306
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- Publication type:
- Article
The gene for histone RNA hairpin binding protein is located on human chromosome 4 and encodes a novel type of RNA binding protein.
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- EMBO Journal, 1997, v. 16, n. 4, p. 769, doi. 10.1093/emboj/16.4.769
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- Article
Prevalence and characteristics of genetic disease in adult kidney stone formers.
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- Nephrology Dialysis Transplantation, 2024, v. 39, n. 9, p. 1426, doi. 10.1093/ndt/gfae074
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- Article
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 225, doi. 10.1002/ajmg.a.37986
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- Article
Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0383-x
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- Publication type:
- Article
Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients.
- Published in:
- 2017
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- Publication type:
- journal article
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
- Published in:
- BMC Neurology, 2011, v. 11, n. 1, p. 1, doi. 10.1186/1471-2377-11-4
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- Publication type:
- Article
Rapid typing of Moraxella catarrhalis subpopulations based on outer membrane proteins using mass spectrometry.
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- Proteomics, 2006, v. 6, n. 1, p. 172, doi. 10.1002/pmic.200500086
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- Article
Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation.
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- Amino Acids, 2014, v. 46, n. 7, p. 1775, doi. 10.1007/s00726-014-1730-2
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- Publication type:
- Article
Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1462, doi. 10.1038/ejhg.2013.57
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- Article
Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 397, doi. 10.1038/ejhg.2012.181
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- Publication type:
- Article
The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.
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- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 212, doi. 10.1038/ejhg.2009.140
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- Publication type:
- Article
Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 53, doi. 10.1038/sj.ejhg.5201725
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- Publication type:
- Article
Sodium Pump Reduction Correlates with Aortic Clamp Time in Pediatric Heart Surgery.
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- Experimental Biology & Medicine, 2006, v. 231, n. 8, p. 1300, doi. 10.1177/153537020623100803
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- Publication type:
- Article
Gender Modulates the Expression of Calcium-Regulating Proteins in Pediatric Atrial Myocardium.
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- Experimental Biology & Medicine, 2005, v. 230, n. 11, p. 853, doi. 10.1177/153537020523001110
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- Publication type:
- Article
Quantitative 1-Step DNA Methylation Analysis with Native Genomic DNA as Template.
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- Clinical Chemistry, 2010, v. 56, n. 7, p. 1098, doi. 10.1373/clinchem.2009.142828
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- Publication type:
- Article
Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient.
- Published in:
- 2022
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- Publication type:
- Case Study
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by <sup>1</sup>H HR‐MAS NMR.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 270, doi. 10.1002/jimd.12696
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- Publication type:
- Article
Mitochondrial tRNA<sup>Leu(UUR)</sup> mutation m.3302A > G presenting as childhood‐onset severe myopathy: threshold determination through segregation study.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 219, doi. 10.1007/s10545-010-9098-2
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- Publication type:
- Article
variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
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- Human Molecular Genetics, 2019, v. 28, n. 4, p. 639, doi. 10.1093/hmg/ddy374
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- Publication type:
- Article
Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3883, doi. 10.1093/hmg/ddu076
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- Article
Mitochondrial Encephalopathy with CADASIL-Like MRI.
- Published in:
- European Neurology, 2007, v. 58, n. 3, p. 185, doi. 10.1159/000104723
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- Publication type:
- Article
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05387-y
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- Publication type:
- Article
The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 120, doi. 10.1002/humu.20064
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- Article
Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results.
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- Clinical Research in Cardiology, 2018, v. 107, n. 8, p. 670, doi. 10.1007/s00392-018-1233-3
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- Publication type:
- Article
Late-onset severe long QT syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 812, doi. 10.3390/genes12060812
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- Publication type:
- Article
Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report.
- Published in:
- 2019
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- Publication type:
- journal article
Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum.
- Published in:
- 2018
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- Publication type:
- journal article
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 492, doi. 10.1002/acn3.189
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- Publication type:
- Article