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Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Immunity (Cambridge, Mass.), 2015-06, Vol.42 (6), p.1185-1196

2015

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A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations

Orphanet journal of rare diseases, 2013-06, Vol.8 (1), p.84-84

2013

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A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

Journal of human genetics, 2019-02, Vol.64 (2), p.161-170

2019

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Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Nature genetics, 2013-03, Vol.45 (3), p.295-298

2013

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Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

Ophthalmology (Rochester, Minn.), 2016-05, Vol.123 (5), p.1143-1150

2016

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A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

American journal of human genetics, 2018-08, Vol.103 (2), p.213-220

2018

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Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Genome medicine, 2022-07, Vol.14 (1), p.73-73, Article 73

2022

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Foramen ovale closure is a process of endothelial-to-mesenchymal transition leading to fibrosis

PloS one, 2014-09, Vol.9 (9), p.e107175-e107175

2014

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Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials

Journal of clinical oncology, 2017-03, Vol.35 (7), p.743-750

2017

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Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

The Journal of pathology, 2014-12, Vol.234 (4), p.436-440

2014

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Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction

JAMA oncology, 2018-04, Vol.4 (4), p.476

2018

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Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study

PLoS medicine, 2022-05, Vol.19 (5), p.e1003981-e1003981

2022

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The Role of the U5 snRNP in Genetic Disorders and Cancer

Frontiers in genetics, 2021-01, Vol.12, p.636620-636620

2021

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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

American journal of human genetics, 2013-04, Vol.92 (4), p.605-613

2013

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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

American journal of human genetics, 2015-10, Vol.97 (4), p.535-545

2015

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MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

American journal of human genetics, 2022-02, Vol.109 (2), p.210-222

2022

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Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

PloS one, 2020-07, Vol.15 (7), p.e0233582

2020

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Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission

eLife, 2021-03, Vol.10

2021

Volltextzugriff (PDF)

Genetic polymorphism in C3 is associated with progression in chronic kidney disease (CKD) patients with IgA nephropathy but not in other causes of CKD

PloS one, 2020-01, Vol.15 (1), p.e0228101-e0228101

2020

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Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.235-235, Article 235

2021

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Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

Journal of human genetics, 2020-06, Vol.65 (6), p.531-539

2020

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Characterizing pharmacogenetic programs using the consolidated framework for implementation research: A structured scoping review

Frontiers in medicine, 2022-08, Vol.9, p.945352-945352

2022

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Spectrum of PEX1 and PEX6 variants in Heimler syndrome

European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1565-1571

2016

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Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome

eLife, 2024-07, Vol.13

2024

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Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Foramen ovale closure is a process of endothelial-to-mesenchymal transition leading to fibrosis

Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction

Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study

The Role of the U5 snRNP in Genetic Disorders and Cancer

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission

Genetic polymorphism in C3 is associated with progression in chronic kidney disease (CKD) patients with IgA nephropathy but not in other causes of CKD

Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease

Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

Characterizing pharmacogenetic programs using the consolidated framework for implementation research: A structured scoping review

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome

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