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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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Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

Human genomics, 2023-09, Vol.17 (1), p.1-15, Article 85

2023

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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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Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

American journal of human genetics, 2014-12, Vol.95 (6), p.689-697

2014

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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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Identification of a Novel Variant in MT-CO3 Causing MELAS

Frontiers in genetics, 2021-05, Vol.12, p.638749-638749

2021

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Investigating the role of ASCC1 in the causation of bone fragility

Frontiers in endocrinology (Lausanne), 2023-06, Vol.14, p.1137573-1137573

2023

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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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Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure

Pediatrics (Evanston), 2019-02, Vol.143 (2)

2019

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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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The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics

Journal of inherited metabolic disease, 2020-01, Vol.43 (1), p.25-35

2020

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Genome Aggregation Database Version 4—New Challenges of Variant Analysis in Movement Disorders

Movement disorders, 2024-07, Vol.39 (7), p.1237-1238

2024

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Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome

Mitochondrion, 2022-01, Vol.62, p.13-23

2022

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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy

The Journal of clinical investigation, 2021-03, Vol.131 (6), p.1-12

2021

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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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Protonation-Dependent Sequencing of 5‑Formylcytidine in RNA

Biochemistry (Easton), 2022-04, Vol.61 (7), p.535-544

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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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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Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

American journal of human genetics, 2017-10, Vol.101 (4), p.525-538

2017

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AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism

Parkinsonism & related disorders, 2022-04, Vol.97, p.52-56

2022

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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

American journal of human genetics, 2024-03, Vol.111 (3), p.594-613

2024

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Genetic diagnosis of Mendelian disorders via RNA sequencing

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

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

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

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

Identification of a Novel Variant in MT-CO3 Causing MELAS

Investigating the role of ASCC1 in the causation of bone fragility

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

Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure

Neonatal lactic acidosis explained by LARS2 defect

The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics

Genome Aggregation Database Version 4—New Challenges of Variant Analysis in Movement Disorders

Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

The phenotypic spectrum of COX20-associated mitochondrial disorder

Protonation-Dependent Sequencing of 5‑Formylcytidine in RNA

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

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

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

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