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Genetic basis of myasthenia gravis – A comprehensive review

Journal of autoimmunity, 2014-08, Vol.52, p.146-153

2014

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Gene expression profiling of the response to interferon beta in Epstein-Barr-transformed and primary B cells of patients with multiple sclerosis

PloS one, 2014-07, Vol.9 (7), p.e102331-e102331

2014

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Interferon-beta induces distinct gene expression response patterns in human monocytes versus T cells

PloS one, 2013-04, Vol.8 (4), p.e62366

2013

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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Nature genetics, 2001-09, Vol.29 (1), p.83-87

2001

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Identification of the gene causing mucolipidosis type IV

Nature genetics, 2000-09, Vol.26 (1), p.118-123

2000

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CATSPER2, a human autosomal nonsyndromic male infertility gene

European journal of human genetics : EJHG, 2003-07, Vol.11 (7), p.497-502

2003

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Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

American journal of human genetics, 2002-12, Vol.71 (6), p.1467-1474

2002

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Scaffold, mechanics and functions of nuclear lamins

FEBS letters, 2023-11, Vol.597 (22), p.2791-2805

2023

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Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy

American journal of human genetics, 2005-03, Vol.76 (3), p.510-516

2005

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Architecture and anatomy of the genomic locus encoding the human leukemia-associated transcription factor RUNX1/AML1

Gene, 2001-01, Vol.262 (1-2), p.23-33

2001

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Glutamine Synthetase Protects against Neuronal Degeneration in Injured Retinal Tissue

Proceedings of the National Academy of Sciences - PNAS, 1997-06, Vol.94 (13), p.7024-7029

1997

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Integrative analysis of methylome and transcriptome in human blood identifies extensive sex- and immune cell-specific differentially methylated regions

Epigenetics, 2015-10, Vol.10 (10), p.943-957

2015

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Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

Circulation research, 2011-09, Vol.109 (6), p.680-686

2011

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Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections

Nature genetics, 2007-12, Vol.39 (12), p.1488-1493

2007

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The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition

Behavioural brain research, 2011-09, Vol.223 (1), p.48-52

2011

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Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins

Journal of autoimmunity, 2017-08, Vol.82, p.62-73

2017

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A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia in Bedouin Families from Israel

American journal of human genetics, 2001-12, Vol.69 (6), p.1378-1384

2001

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Trick or treat: the effect of placebo on the power of pharmacogenetic association studies

Human genomics, 2005-03, Vol.2 (1), p.28-38

2005

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Analysis of genetic polymorphisms in acetylcholinesterase as reflected in different populations

Current Alzheimer research, 2005-04, Vol.2 (2), p.207

2005

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Insulin-Like Growth Factor-Binding Protein 7 Regulates Keratinocyte Proliferation, Differentiation and Apoptosis

Journal of investigative dermatology, 2010-02, Vol.130 (2), p.378-387

2010

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Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms

Annals of the New York Academy of Sciences, 2006-11, Vol.1085 (1), p.242-255

2006

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Mechanisms for evolving hypervariability: the case of conopeptides

Molecular biology and evolution, 2001-02, Vol.18 (2), p.120-131

2001

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MTIA: First Generation Silicon Targeting Meta's Recommendation Systems

Proceedings of the 50th Annual International Symposium on Computer Architecture, 2023, p.1-13

2023

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Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers

Pharmacogenetics and genomics, 2007-08, Vol.17 (8), p.657-666

2007

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Genetic basis of myasthenia gravis – A comprehensive review

Gene expression profiling of the response to interferon beta in Epstein-Barr-transformed and primary B cells of patients with multiple sclerosis

Interferon-beta induces distinct gene expression response patterns in human monocytes versus T cells

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Identification of the gene causing mucolipidosis type IV

CATSPER2, a human autosomal nonsyndromic male infertility gene

Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

Scaffold, mechanics and functions of nuclear lamins

Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy

Architecture and anatomy of the genomic locus encoding the human leukemia-associated transcription factor RUNX1/AML1

Glutamine Synthetase Protects against Neuronal Degeneration in Injured Retinal Tissue

Integrative analysis of methylome and transcriptome in human blood identifies extensive sex- and immune cell-specific differentially methylated regions

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition

Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins

A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia in Bedouin Families from Israel

Trick or treat: the effect of placebo on the power of pharmacogenetic association studies

Analysis of genetic polymorphisms in acetylcholinesterase as reflected in different populations

Insulin-Like Growth Factor-Binding Protein 7 Regulates Keratinocyte Proliferation, Differentiation and Apoptosis

Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms

Mechanisms for evolving hypervariability: the case of conopeptides

MTIA: First Generation Silicon Targeting Meta's Recommendation Systems

Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers

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