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Genetic diagnosis of Mendelian disorders via RNA sequencing

Nature communications, 2017-06, Vol.8 (1), p.15824-11, Article 15824

2017

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OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

PloS one, 2018-07, Vol.13 (7), p.e0199938-e0199938

2018

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Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Journal of neurology, 2016-05, Vol.263 (5), p.961-972

2016

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Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Human mutation, 2021-03, Vol.42 (3), p.310-319

2021

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A GTPase-activating protein controls Rab5 function in endocytic trafficking

Nature cell biology, 2005-09, Vol.7 (9), p.887-893

2005

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De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.411-419

2021

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Choice of Plk1 docking partners during mitosis and cytokinesis is controlled by the activation state of Cdk1

Nature cell biology, 2007-04, Vol.9 (4), p.436-444

2007

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Phosphorylation of Mitotic Kinesin-like Protein 2 by Polo-like Kinase 1 Is Required for Cytokinesis

The Journal of cell biology, 2003-09, Vol.162 (5), p.863-875

2003

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A GRASP55-Rab2 Effector Complex Linking Golgi Structure to Membrane Traffic

The Journal of cell biology, 2001-12, Vol.155 (6), p.877-883

2001

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Neonatal lactic acidosis explained by LARS2 defect

Pediatric research, 2023-03, Vol.93 (4), p.740-743

2023

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Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

Brain (London, England : 1878), 2021-10, Vol.144 (9), p.e74-e74

2021

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The phenotypic spectrum of COX20-associated mitochondrial disorder

Brain (London, England : 1878), 2022-12, Vol.145 (12), p.e125-e127

2022

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Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq

Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1567, p.379

2017

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SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

The Journal of clinical investigation, 2020-01, Vol.130 (1), p.108-125

2020

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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

Brain (London, England : 1878), 2024-06, Vol.147 (6), p.1967-1974

2024

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Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Genetics in medicine, 2020-03, Vol.22 (3), p.610-621

2020

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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Human molecular genetics, 2022-09, Vol.31 (18), p.3083-3094

2022

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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

Genetics in medicine, 2024-02, Vol.26 (2), p.101013, Article 101013

2024

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MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Human mutation, 2013-11, Vol.34 (11), p.1501-1509

2013

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Plk1 docking to GRASP65 phosphorylated by Cdk1 suggests a mechanism for Golgi checkpoint signalling

The EMBO journal, 2005-02, Vol.24 (4), p.753-765

2005

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Genetic diagnosis of Mendelian disorders via RNA sequencing

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

A GTPase-activating protein controls Rab5 function in endocytic trafficking

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Choice of Plk1 docking partners during mitosis and cytokinesis is controlled by the activation state of Cdk1

Phosphorylation of Mitotic Kinesin-like Protein 2 by Polo-like Kinase 1 Is Required for Cytokinesis

A GRASP55-Rab2 Effector Complex Linking Golgi Structure to Membrane Traffic

Neonatal lactic acidosis explained by LARS2 defect

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

The phenotypic spectrum of COX20-associated mitochondrial disorder

Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

Plk1 docking to GRASP65 phosphorylated by Cdk1 suggests a mechanism for Golgi checkpoint signalling

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

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