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FOXR1 regulates stress response pathways and is necessary for proper brain development

PLoS genetics, 2021-11, Vol.17 (11), p.e1009854-e1009854

2021

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Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

PLoS genetics, 2019-05, Vol.15 (5), p.e1008143

2019

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ATP1A3 Mutation in Adult Rapid-Onset Ataxia

PloS one, 2016-03, Vol.11 (3), p.e0151429-e0151429

2016

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Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity

Hypertension (Dallas, Tex. 1979), 2022-01, Vol.79 (1), p.60-75

2022

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PTPRF is disrupted in a patient with syndromic amastia

BMC medical genetics, 2011-03, Vol.12 (1), p.46-46, Article 46

2011

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Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

Orphanet journal of rare diseases, 2015-03, Vol.10 (1), p.27-27, Article 27

2015

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Explorations to improve the completeness of exome sequencing

BMC medical genomics, 2016-08, Vol.9 (1), p.56-56, Article 56

2016

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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.206-206, Article 206

2021

Volltextzugriff (PDF)

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.71-71, Article 71

2017

Volltextzugriff (PDF)

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder

Human molecular genetics, 2022-08, Vol.31 (17), p.2934-2950

2022

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Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet journal of rare diseases, 2023-01, Vol.18 (1), p.6-6, Article 6

2023

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Characteristics of undiagnosed diseases network applicants: implications for referring providers

BMC health services research, 2018-08, Vol.18 (1), p.652-652, Article 652

2018

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VarSight: prioritizing clinically reported variants with binary classification algorithms

BMC bioinformatics, 2019-10, Vol.20 (1), p.496-496, Article 496

2019

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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

PLoS genetics, 2011-10, Vol.7 (10), p.e1002325-e1002325

2011

Volltextzugriff (PDF)

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

PLoS genetics, 2018-12, Vol.14 (12), p.e1007752-e1007752

2018

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Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Neuromuscular disorders : NMD, 2013-06, Vol.23 (6), p.483-488

2013

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Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Neurology, 2012-07, Vol.79 (2), p.123

2012

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FOXR1 regulates stress response pathways and is necessary for proper brain development

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity

PTPRF is disrupted in a patient with syndromic amastia

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

Explorations to improve the completeness of exome sequencing

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Characteristics of undiagnosed diseases network applicants: implications for referring providers

VarSight: prioritizing clinically reported variants with binary classification algorithms

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

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