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Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

Scientific reports, 2020-06, Vol.10 (1), p.9909-9909, Article 9909

2020

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Facial Asymmetry in Nonsyndromic and Muenke Syndrome–Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans

The Cleft palate-craniofacial journal, 2021-06, Vol.58 (6), p.687-696

2021

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Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

PloS one, 2015-03, Vol.10 (3), p.e0122662-e0122662

2015

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Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.281-293

2012

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Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy

The journal of clinical endocrinology and metabolism, 2019-12, Vol.104 (12), p.5968-5976

2019

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Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Clinical genetics, 2019-03, Vol.95 (3), p.403-408

2019

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Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2251-2257

2022

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Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

Genes, 2020-08, Vol.11 (8), p.936

2020

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Myopathy can be a key phenotype of membrin (GOSR2) deficiency

Human mutation, 2021-09, Vol.42 (9), p.1101-1106

2021

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Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

Neuromuscular disorders : NMD, 2023-07, Vol.33 (7), p.539-545

2023

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Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

Frontiers in neurology, 2021-07, Vol.12, p.707838-707838

2021

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Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

Frontiers in neurology, 2021-09, Vol.12, p.707837-707837

2021

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Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

European journal of medical genetics, 2019-01, Vol.62 (1), p.1-8

2019

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Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

European journal of human genetics : EJHG, 2004-09, Vol.12 (9), p.738-743

2004

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Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity

Neuromuscular disorders : NMD, 2024-01, Vol.34, p.9-18

2024

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Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)

Cerebellum (London, England), 2024-04, Vol.23 (2), p.861-871

2024

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Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

Journal of the neurological sciences, 2020-08, Vol.415, p.116897-116897, Article 116897

2020

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Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

Journal of neurology, 2019-03, Vol.266 (3), p.735-744

2019

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DNA methylation signature classification of rare disorders using publicly available methylation data

Clinical genetics, 2023-06, Vol.103 (6), p.688-692

2023

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Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

International journal of neonatal screening, 2021-07, Vol.7 (3), p.50

2021

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Increased risk of sudden death in untreated primary carnitine deficiency

Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.290-296

2020

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Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders

Scientific reports, 2023-02, Vol.13 (1), p.2538-2538, Article 2538

2023

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Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case‐Control Study

Journal of bone and mineral research, 2017-10, Vol.32 (10), p.2041-2048

2017

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Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

Calcified tissue international, 2019-12, Vol.105 (6), p.681-686

2019

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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

European journal of human genetics : EJHG, 2018-10, Vol.26 (10), p.1512-1520

2018

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Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

Facial Asymmetry in Nonsyndromic and Muenke Syndrome–Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening

Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

Myopathy can be a key phenotype of membrin (GOSR2) deficiency

Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity

Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)

Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

DNA methylation signature classification of rare disorders using publicly available methylation data

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

Increased risk of sudden death in untreated primary carnitine deficiency

Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders

Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case‐Control Study

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

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