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How important are rare variants in common disease?

Briefings in functional genomics, 2014-09, Vol.13 (5), p.353-361

2014

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FSuite: exploiting inbreeding in dense SNP chip and exome data

Bioinformatics (Oxford, England), 2014-07, Vol.30 (13), p.1940-1941

2014

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Principals about principal components in statistical genetics

Briefings in bioinformatics, 2019-11, Vol.20 (6), p.2200-2216

2019

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MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data

Bioinformatics, 2018-10, Vol.34 (19), p.3396-3398

2018

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Genetic Association and Gene-Environment Interaction: A New Method for Overcoming the Lack of Exposure Information in Controls

American journal of epidemiology, 2011-01, Vol.173 (2), p.225-235

2011

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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Brain (London, England : 1878), 2014-08, Vol.137 (Pt 8), p.2329-2345

2014

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Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium

Carcinogenesis (New York), 2012-05, Vol.33 (5), p.1059-1064

2012

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CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability

Brain (London, England : 1878), 2022-10, Vol.145 (10), p.3415-3430

2022

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A Weighted-Holm Procedure Accounting for Allele Frequencies in Genomewide Association Studies

Genetics (Austin), 2008-09, Vol.180 (1), p.697-702

2008

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Concise Review: Forkhead Pathway in the Control of Adult Neurogenesis

Stem cells (Dayton, Ohio), 2014-06, Vol.32 (6), p.1398-1407

2014

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ALTree: association detection and localization of susceptibility sites using haplotype phylogenetic trees

Bioinformatics, 2006-06, Vol.22 (11), p.1402-1403

2006

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Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.e373-e373

2015

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Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.e312-e312

2014

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Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Brain (London, England : 1878), 2015-10, Vol.138 (Pt 10), p.e386-e386

2015

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Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

Brain (London, England : 1878), 2015-09, Vol.138 (Pt 9), p.e377-e377

2015

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Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

Brain (London, England : 1878), 2016-04, Vol.139 (Pt 4), p.e22-e22

2016

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FSuite: exploiting inbreeding in dense SNP chip and exome data

Bioinformatics (Oxford, England), 2014-07, Vol.30, p.1940-1941

2014

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Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.e310-e310

2014

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Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.e314-e314

2014

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GEMPROT: visualization of the impact on the protein of the genetic variants found on each haplotype

Bioinformatics, 2019-07, Vol.35 (14), p.2492-2494

2019

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How important are rare variants in common disease?

Briefings in functional genomics & proteomics, 2014-09, Vol.13 (5), p.353

2014

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Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China: Table 1

Brain (London, England : 1878), 2016-04, Vol.139 (4), p.e22-e22

2016

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Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation: Table 1

Brain (London, England : 1878), 2015-09, Vol.138 (9), p.e377-e377

2015

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Further evidence that the UGT1A128 allele is not associated with coronary heart disease: The ECTIM Study

Clinical chemistry (Baltimore, Md.), 2006-12, Vol.52 (12), p.2313-2314

2006

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How important are rare variants in common disease?

RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome

FSuite: exploiting inbreeding in dense SNP chip and exome data

Principals about principal components in statistical genetics

MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data

Genetic Association and Gene-Environment Interaction: A New Method for Overcoming the Lack of Exposure Information in Controls

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium

CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability

A Weighted-Holm Procedure Accounting for Allele Frequencies in Genomewide Association Studies

Concise Review: Forkhead Pathway in the Control of Adult Neurogenesis

ALTree: association detection and localization of susceptibility sites using haplotype phylogenetic trees

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

FSuite: exploiting inbreeding in dense SNP chip and exome data

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

GEMPROT: visualization of the impact on the protein of the genetic variants found on each haplotype

How important are rare variants in common disease?

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China: Table 1

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation: Table 1

Further evidence that the UGT1A128 allele is not associated with coronary heart disease: The ECTIM Study

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