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CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing

Genome Biology, 2018-11, Vol.19 (1), p.202-202, Article 202

2018

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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Nature genetics, 2022-09, Vol.54 (9), p.1320-1331

2022

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FAM20A mutations can cause enamel-renal syndrome (ERS)

PLoS genetics, 2013-02, Vol.9 (2), p.e1003302

2013

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MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

Human molecular genetics, 2019-02, Vol.28 (3), p.476-486

2019

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Leukocyte DNA methylation in Alzheimer´s disease associated genes: replication of findings from neuronal cells

Epigenetics, 2023-12, Vol.18 (1), p.2158285-2158285

2023

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Epigenetic influences on aging: a longitudinal genome-wide methylation study in old Swedish twins

Epigenetics, 2018-01, Vol.13 (9), p.975-987

2018

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Comparative genomics of the major parasitic worms

Nature genetics, 2019-01, Vol.51 (1), p.163-174

2019

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Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study

PLoS genetics, 2016-10, Vol.12 (10), p.e1006379-e1006379

2016

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Mutually exclusive signaling signatures define the hepatic and pancreatic progenitor cell lineage divergence

Genes & development, 2013-09, Vol.27 (17), p.1932-1946

2013

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Implementing a method for studying longitudinal DNA methylation variability in association with age

Epigenetics, 2018-01, Vol.13 (8), p.866-874

2018

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Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5

Human molecular genetics, 2009-08, Vol.18 (16), p.3125-3135

2009

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A mouse model for spinal muscular atrophy

Nature genetics, 2000-01, Vol.24 (1), p.66-70

2000

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DNA Methylation and All-Cause Mortality in Middle-Aged and Elderly Danish Twins

Genes, 2018-02, Vol.9 (2), p.78

2018

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Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature

Human molecular genetics, 2003-11, Vol.12 (21), p.2753-2764

2003

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PIM1 phosphorylates and negatively regulates ASK1-mediated apoptosis

Oncogene, 2009-12, Vol.28 (48), p.4261-4271

2009

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PI3K-p110α mediates resistance to HER2-targeted therapy in HER2+, PTEN-deficient breast cancers

Oncogene, 2016-07, Vol.35 (27), p.3607-3612

2016

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Dynamic patterns of blood lipids and DNA methylation in response to statin therapy

Clinical epigenetics, 2022-11, Vol.14 (1), p.153-153, Article 153

2022

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The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.41-48

2013

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Comprehensive longitudinal study of epigenetic mutations in aging

Clinical epigenetics, 2019-12, Vol.11 (1), p.187, Article 187

2019

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Epigenome-wide association study of level and change in cognitive abilities from midlife through late life

Clinical epigenetics, 2021-04, Vol.13 (1), p.85-85, Article 85

2021

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Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: αB-crystallin modulates aggregation

Human molecular genetics, 2005-08, Vol.14 (16), p.2335-2347

2005

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Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

Human molecular genetics, 2014-04, Vol.23 (8), p.1957-1963

2014

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Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice

Nature genetics, 2007-08, Vol.39 (8), p.1025-1032

2007

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Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

Human molecular genetics, 2016-05, Vol.25 (10), p.2070-2081

2016

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CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

FAM20A mutations can cause enamel-renal syndrome (ERS)

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

Leukocyte DNA methylation in Alzheimer´s disease associated genes: replication of findings from neuronal cells

Epigenetic influences on aging: a longitudinal genome-wide methylation study in old Swedish twins

Comparative genomics of the major parasitic worms

Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study

Mutually exclusive signaling signatures define the hepatic and pancreatic progenitor cell lineage divergence

Implementing a method for studying longitudinal DNA methylation variability in association with age

Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5

A mouse model for spinal muscular atrophy

DNA Methylation and All-Cause Mortality in Middle-Aged and Elderly Danish Twins

Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature

PIM1 phosphorylates and negatively regulates ASK1-mediated apoptosis

PI3K-p110α mediates resistance to HER2-targeted therapy in HER2+, PTEN-deficient breast cancers

Dynamic patterns of blood lipids and DNA methylation in response to statin therapy

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Comprehensive longitudinal study of epigenetic mutations in aging

Epigenome-wide association study of level and change in cognitive abilities from midlife through late life

Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: αB-crystallin modulates aggregation

Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

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