List of works - Radek Szklarczyk

A comprehensive strategy for exome-based preconception carrier screening.

scientific article published on 27 October 2016

A first look at ARFome: dual-coding genes in mammalian genomes

scientific article

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

scientific article published on 15 December 2016

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

scientific article

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

scientific article published on 2 November 2012

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

scientific article

AuberGene--a sensitive genome alignment tool

scientific article published on 10 April 2006

BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion

scientific journal article

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

scientific article

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

article

CiliaCarta: An integrated and validated compendium of ciliary genes

scientific article published on 16 May 2019

Complex fate of paralogs

scientific article

Control of mitochondrial integrity in ageing and disease

scientific article

Expansion of the human mitochondrial proteome by intra- and inter-compartmental protein duplication

scientific article

FACIL: Fast and Accurate Genetic Code Inference and Logo

scientific article

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

scientific article published on 13 February 2018

Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response

scientific article published on 20 October 2015

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

scientific article

Loss, replacement and gain of proteins at the origin of the mitochondria.

scientific article

Mitochondrial proteome evolution and genetic disease.

scientific article published on 26 March 2009

Mosaic origin of the mitochondrial proteome

scientific article

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

scientific article published on 27 December 2019

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

scientific article

NDUFA4 Is a Subunit of Complex IV of the Mammalian Electron Transport Chain ⬇️

scientific article published on August 16, 2012

NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I

scientific article

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

scientific article

Olfactory receptor genes cooperate with protocadherin genes in human extreme obesity.

scientific article published on 6 May 2015

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

scientific article published on 9 January 2017

Rapid asymmetric evolution of a dual-coding tumor suppressor INK4a/ARF locus contradicts its function

scientific article

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

article

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

scientific article published on 18 October 2017

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

scientific article

Tracking repeats using significance and transitivity

scientific article published in August 2004

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system

scientific article published on 15 September 2015

Unraveling the human dendritic cell phagosome proteome by organellar enrichment ranking

scientific article published on 03 December 2011

WeGET: predicting new genes for molecular systems by weighted co-expression.

scientific article

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

article by Tom E J Theunissen et al published 2018 in Frontiers in Genetics

List of works by Radek Szklarczyk

A comprehensive strategy for exome-based preconception carrier screening.

A first look at ARFome: dual-coding genes in mammalian genomes

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

AuberGene--a sensitive genome alignment tool

BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

CiliaCarta: An integrated and validated compendium of ciliary genes

Complex fate of paralogs

Control of mitochondrial integrity in ageing and disease

Expansion of the human mitochondrial proteome by intra- and inter-compartmental protein duplication

FACIL: Fast and Accurate Genetic Code Inference and Logo

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

Loss, replacement and gain of proteins at the origin of the mitochondria.

Mitochondrial proteome evolution and genetic disease.

Mosaic origin of the mitochondrial proteome

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

NDUFA4 Is a Subunit of Complex IV of the Mammalian Electron Transport Chain ⬇️

NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Olfactory receptor genes cooperate with protocadherin genes in human extreme obesity.

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Rapid asymmetric evolution of a dual-coding tumor suppressor INK4a/ARF locus contradicts its function

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Tracking repeats using significance and transitivity

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system

Unraveling the human dendritic cell phagosome proteome by organellar enrichment ranking

WeGET: predicting new genes for molecular systems by weighted co-expression.

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause