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DNA methylation study of Huntington's disease and motor progression in patients and in animal models

Nature communications, 2020-09, Vol.11 (1), p.4529-4529, Article 4529

2020

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Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

Scientific reports, 2022-05, Vol.12 (1), p.8572-8572, Article 8572

2022

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Castration delays epigenetic aging and feminizes DNA methylation at androgen-regulated loci

eLife, 2021-07, Vol.10

2021

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A new mechanism for a familiar mutation - bovine DGAT1 K232A modulates gene expression through multi-junction exon splice enhancement

BMC genomics, 2020-08, Vol.21 (1), p.591-591, Article 591

2020

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DNA and RNA-sequence based GWAS highlights membrane-transport genes as key modulators of milk lactose content

BMC genomics, 2017-12, Vol.18 (1), p.968-968, Article 968

2017

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Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability

Journal of human genetics, 2022-01, Vol.67 (1), p.19-26

2022

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Inconsistencies in histone acetylation patterns among different HD model systems and HD post-mortem brains

Neurobiology of disease, 2020-12, Vol.146, p.105092, Article 105092

2020

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Expression variants of the lipogenic AGPAT6 gene affect diverse milk composition phenotypes in Bos taurus

PloS one, 2014-01, Vol.9 (1), p.e85757-e85757

2014

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ICARUS v3, a massively scalable web server for single-cell RNA-seq analysis of millions of cells

Bioinformatics (Oxford, England), 2024-03, Vol.40 (4)

2024

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A common regulatory haplotype doubles lactoferrin concentration in milk

Genetics selection evolution (Paris), 2024-03, Vol.56 (1), p.22-18, Article 22

2024

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Cerebral Vitamin B5 (D-Pantothenic Acid) Deficiency as a Potential Cause of Metabolic Perturbation and Neurodegeneration in Huntington's Disease

Metabolites, 2019-06, Vol.9 (6), p.113

2019

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Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle

Genetics selection evolution (Paris), 2019-11, Vol.51 (1), p.62-62, Article 62

2019

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Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP

Genetics selection evolution (Paris), 2022-03, Vol.54 (1), p.22-22, Article 22

2022

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ICARUS, an interactive web server for single cell RNA-seq analysis

Nucleic acids research, 2022-07, Vol.50 (W1), p.W427

2022

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Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.305-308

2016

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Multiple QTL underlie milk phenotypes at the CSF2RB locus

Genetics selection evolution (Paris), 2019-01, Vol.51 (1), p.3-3, Article 3

2019

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Rapid RNA analysis of individual Caenorhabditis elegans

MethodsX, 2015-01, Vol.2 (C), p.59-63

2015

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A Capra hircus chromosome 19 locus linked to milk production influences mammary conformation

Journal of animal science and biotechnology, 2022-02, Vol.13 (1), p.4-4, Article 4

2022

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Extensive intraspecies cryptic variation in an ancient embryonic gene regulatory network

eLife, 2019-08, Vol.8

2019

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Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans

Disease models & mechanisms, 2018-11, Vol.11 (11)

2018

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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

JIMD reports, 2023-05, Vol.64 (3), p.223-232

2023

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Requirement of STAT5b for Sexual Dimorphism of Body Growth Rates and Liver Gene Expression

Proceedings of the National Academy of Sciences - PNAS, 1997-07, Vol.94 (14), p.7239-7244

1997

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Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data

Journal of biomedical informatics, 2019-06, Vol.94, p.103174-103174, Article 103174

2019

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Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle

Nature communications, 2014-12, Vol.5 (1), p.5861-5861, Article 5861

2014

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DNA methylation study of Huntington's disease and motor progression in patients and in animal models

Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Castration delays epigenetic aging and feminizes DNA methylation at androgen-regulated loci

A new mechanism for a familiar mutation - bovine DGAT1 K232A modulates gene expression through multi-junction exon splice enhancement

DNA and RNA-sequence based GWAS highlights membrane-transport genes as key modulators of milk lactose content

Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability

Inconsistencies in histone acetylation patterns among different HD model systems and HD post-mortem brains

Expression variants of the lipogenic AGPAT6 gene affect diverse milk composition phenotypes in Bos taurus

ICARUS v3, a massively scalable web server for single-cell RNA-seq analysis of millions of cells

A common regulatory haplotype doubles lactoferrin concentration in milk

Cerebral Vitamin B5 (D-Pantothenic Acid) Deficiency as a Potential Cause of Metabolic Perturbation and Neurodegeneration in Huntington's Disease

Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle

Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP

ICARUS, an interactive web server for single cell RNA-seq analysis

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Multiple QTL underlie milk phenotypes at the CSF2RB locus

Rapid RNA analysis of individual Caenorhabditis elegans

A Capra hircus chromosome 19 locus linked to milk production influences mammary conformation

Extensive intraspecies cryptic variation in an ancient embryonic gene regulatory network

Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

Requirement of STAT5b for Sexual Dimorphism of Body Growth Rates and Liver Gene Expression

Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data

Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle

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