Michael B. Petersen
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View article: Blood donors as sentinels for genomic surveillance of West Nile virus in Germany using a sensitive amplicon-based sequencing approach
Blood donors as sentinels for genomic surveillance of West Nile virus in Germany using a sensitive amplicon-based sequencing approach Open
This study highlights blood donors as valuable sentinels for WNV genomic surveillance. The validated amplicon-based sequencing approach enables sensitive, scalable genome recovery from low-viremia samples, and when integrated with routine …
View article: Blood donors as sentinels for genomic surveillance of West Nile virus in Germany (2020–2024) using a sensitive amplicon-based sequencing approach
Blood donors as sentinels for genomic surveillance of West Nile virus in Germany (2020–2024) using a sensitive amplicon-based sequencing approach Open
West Nile virus (WNV) has emerged as a public health concern in Germany since its first detection in 2018, with evidence of expanding geographic spread. Genomic surveillance is critical for tracking viral evolution, identifying introductio…
An asymptomatic male individual carrying a 5.72 Mb <i>de novo</i> deletion in 8p23.2‑p23.3: A case report Open
Numerous rearrangements in the 8p23 chromosomal region have been reported; included in these rearrangements are isolated deletions in this area. Such deletions are associated with a wide range of phenotypic characteristics, including motor…
Usutu virus (Orthoflavivirus usutuense) amplicon sequencing for Illumina v1 Open
Amplicon based targeted sequencing methods proved their importance in case of many human pathogenic viruses (e.g. Zika virus, Ebola virus, SARS-Cov 2). Application and development of this methods for other medically important viruses could…
View article: Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature
Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature Open
Background: MCPH1 is known as the microcephalin gene (OMIM: *607117), of which the encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C-terminus). The microcephalin protein is made up of three BCRT domains and con…
View article: All-optical microwave feedback oscillator with atomic cell resonator
All-optical microwave feedback oscillator with atomic cell resonator Open
International audience
Replication Data for: Partisan polarization is the primary psychological motivation behind political fake news sharing on Twitter Open
Data and code for figures and tables in "Partisan polarization is the primary psychological motivation behind political fake news sharing on Twitter," forthcoming at the APSR.
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia Open
Background Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb…
First reported <i>CABP2</i>‐related non‐syndromic hearing loss in Northern Europe Open
Background CABP2 ‐related non‐syndromic hearing loss have only been reported in a few families worldwide (Iran, Turkey, Pakistan and Italy). The hearing loss was in these cases described as prelingual, symmetrical, and moderate to severe. …
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update Open
Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteris…
Recurrent arginine substitutions in the <i>ACTG2</i> gene are the primary driver of disease burden and severity in visceral myopathy Open
Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum with megacystis-microcolon intestinal hypoperistalsis syndrome and chronic intestinal pseudo-obstruction. The vast majority of cases are caused…
Audiological and Vestibular Findings in Subjects with MELAS Syndrome Open
OBJECTIVES: The mitochondrial DNA (mtDNA) point mutation m.3243A>G is known to express the following two syndromes among others: maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalopathy, lactic acidosis, and strok…
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21 Open
Background Down syndrome (DS) is characterized by the presence of an extra full or partial human chromosome 21 (Hsa21). An invaluable model to define genotype‐phenotype correlations in DS is the study of the extremely rare cases of partial…
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. A case report Open
The aetiology of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, characterized by uterovaginal agenesis in 46,XX women, remains poorly understood. Since familial occurrences are rare, genetic findings reported so far only apply to a minori…
The spectrum of intermediate <i><span>SCN</span>8A</i>‐related epilepsy Open
Summary Objective Pathogenic variants in SCN 8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures ( BFIS ) to epileptic encephalopathies with variable severity. Furthermore, a…
First reported adult patient with TARP syndrome: A case report Open
TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X‐linked syndrome often resulting in pre‐ or post‐natal lethality in affected males. In 2010, RBM10 was ide…
Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 Open
Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. Methods: Usi…
Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies Open
Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next‐generation sequencing in fetuses with bilateral kidney ano…
Investigation of associations of <em>ARMS2</em>, <em>CD14</em>, and <em>TLR4</em> gene polymorphisms with wet age-related macular degeneration in a Greek population Open
This study confirmed the association between the ARMS2 variation and AMD, detecting the T risk allele in a significantly higher frequency in the patient group, compared with the control subjects (45% vs 29.13%, P<0.001, odds ratio [OR] 1.9…
De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome Open
Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis…
Prevalence and patient characteristics of Mayer–Rokitansky–Küster–Hauser syndrome: a nationwide registry-based study Open
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