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New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype

Journal of neurology, neurosurgery and psychiatry, 2010-09, Vol.81 (9), p.968-972

2010

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Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients

International journal of immunogenetics, 2009-08, Vol.36 (4), p.217-222

2009

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Association of interleukin-8 receptor [alpha] polymorphisms with chronic obstructive pulmonary disease and asthma

Genes and immunity, 2005-05, Vol.6 (3), p.225

2005

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Trying to understand the genetics of atopic dermatitis

Molecular and cellular probes, 2016-12, Vol.30 (6), p.374-385

2016

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Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene

International journal of molecular sciences, 2023-10, Vol.24 (19), p.14716

2023

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Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants

International journal of molecular sciences, 2023-04, Vol.24 (7), p.6808

2023

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First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing

Neurogenetics, 2018-01, Vol.19 (1), p.55-59

2018

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Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy

Genes, 2022-09, Vol.13 (10), p.1752

2022

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Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.e1-150

2016

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Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement

Neurology, 2016-11, Vol.87 (21), p.2235-2243

2016

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BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy

Muscle & nerve, 2019-04, Vol.59 (4), p.484-486

2019

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47 patients with FLNA associated periventricular nodular heterotopia

Orphanet journal of rare diseases, 2015-10, Vol.10 (1), p.134-134, Article 134

2015

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Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia

Molecular and cellular probes, 2016-02, Vol.30 (1), p.53-55

2016

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A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Journal of medical genetics, 2016-08, Vol.53 (8), p.523-532

2016

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Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura

Journal of investigative dermatology, 2015-02, Vol.135 (2), p.615-618

2015

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High creatine kinase levels and white matter changes: Clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency

Molecular and cellular probes, 2014-08, Vol.28 (4), p.118-122

2014

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Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort

BMC dermatology, 2014-11, Vol.14 (1), p.17-17, Article 17

2014

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High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

Molecular and cellular probes, 2013-04, Vol.27 (2), p.103-108

2013

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Long survival in Leigh syndrome: new cases and review of literature

Neuropediatrics, 2014-12, Vol.45 (6), p.346-353

2014

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Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.520-524

2011

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Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

Journal of medical genetics, 2013-03, Vol.50 (3), p.140-143

2013

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New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype

Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients

Association of interleukin-8 receptor [alpha] polymorphisms with chronic obstructive pulmonary disease and asthma

Trying to understand the genetics of atopic dermatitis

Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene

Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants

First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing

Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement

BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy

47 patients with FLNA associated periventricular nodular heterotopia

Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura

High creatine kinase levels and white matter changes: Clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis

Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

Long survival in Leigh syndrome: new cases and review of literature

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

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