Damian Tools Download View Publication

Please refer to our Terms of Use and Privacy Policy or Contact Us for more details.

Enjoy unrestricted access worldwide.

ExpressVPN defeats content restrictions and censorship to deliver unlimited access to video, music, social media, and more, from anywhere in the world.

ExpressVPN hides your IP address and encrypts your network data so no one can see what youre doing.

A single ExpressVPN subscription comes with easy-to-use apps for every device you own.

Mac, Windows, Android, iOS, Linux, routers, and so much more.

Defeat hackers and spies with best-in-class encryption and leakproofing.

Connect to any of our unlimited-bandwidth, ultra-fast VPN servers.

Fast, reliable, secure, and simple to use, ConnectWise Control helps businesses solve their customers issues faster from any.

Featuring an intuitive web-based interface, Device42 actionable insight into enterprise.

In the present study, wholeexome sequencing of three stillbirths in one family was performed to evaluate the presence of a hereditary disorder.

Damian Tools Download View Publication

Download View publication Copy reference Copy caption Embed figure Feature comparison of current state-of-the-art prioritization tools.

Source publication MutationDistiller: User-driven identification of pathogenic DNA variants Article Full-text available May 2019 Daniela Hombach Markus Schuelke Ellen Knierim.

Dominik Seelow MutationDistiller is a freely available online tool for user-driven analyses of Whole Exome Sequencing data.

It offers a user-friendly interface aimed at clinicians and researchers, who are not necessarily bioinformaticians.

MutationDistiller combines MutationTasters pathogenicity predictions with a phenotype-based approach.

Cite Download full-text Context in source publication Context 1.

Figure 1 gives an overview of the features of current variant prioritisation tools..

View in full-text Citations.

Filtering and phenotype-based prioritization was performed using the softwares GeneTalk, PhenIX, and MutationDistiller (11)(12) (13).

Variants were visualized by the Integrated Genome Viewer ( )..

Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations Article Mar 2021 Sebastian Butscheidt Elena Tsourdi Tim Rolvien Alena Delsmann Ralf Oheim Pregnancy and lactation-associated osteoporosis (PLO) is a rare skeletal disorder characterized by early-onset osteoporosis typically manifestating with vertebral compression fractures or transient osteoporosis of the hip.

We hypothesized that genetic variants may play a role in the development of PLO.

This study aimed to analyze the presence of genetic variants and a potential association with the clinical presentation in PLO.

PLO were included from 2013-2019 in a multicenter study in Germany.

All cases underwent comprehensive genetic analysis based on a custom-designed gene panel including genes relevant for skeletal disorders.

The skeletal status was assessed using dual-energy X-ray absorptiometry (DXA).

Subgroups were further analyzed by serum bone turnover markers (n31) and high-resolution peripheral computed tomography (HR-pQCT; n23).

The mean number of vertebral compression fractures was 3.33.4 per case with a significantly higher occurrence in the subgroup with genetic variants (4.83.7 vs.

Among the total cohort, DXA Z-scores were significantly lower at the lumbar spine compared to the femoral neck (p0.002).

HR-pQCT revealed a pronounced reduction of trabecular and cortical thickness, while trabecular number was within the reference range.

Eighteen women (43) received a bone-specific therapy (primarily teriparatide).

Overall, a steep increase in bone mass (37.7) was observed after 3 years.

In conclusion, pregnancy and lactation represent skeletal risk factors, which may unmask hereditary bone disorders leading to PLO.

Although, a timely diagnosis and adequate treatment can ensure a substantial recovery potential even without specific therapy.

Patients with genetically induced low bone turnover (e.g.; LRP5, WNT1) may especially benefit from osteo-anabolic medication.

View. Data were analyzed by the software tools VarFish (30) and MutationDistiller.

The variants were prioritized using the following phenotype terms: increased susceptibility to fractures (HP:0002659), progressive bowing of long bones (HP:0006383), and osteopenia (HP:0000938).

MESD was ranked among the top 10 variants..

Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX Article Full-text available Feb 2021 J BONE MINER RES Julian Strznickel Katharina JhnRickert Jozef Zustin Floriane Hennig Ralf Oheim Multiple genes are known to be associated with osteogenesis imperfecta (OI), a phenotypically and genetically heterogenous bone disorder, marked predominantly by low bone mineral density and increased risk of fractures.

Recently, mutations affecting MESD, which encodes for a chaperone required for trafficking of the lowdensity lipoprotein receptors LRP5 and LRP6 in the endoplasmic reticulum, were described to cause autosomalrecessive OI XX in homozygous children.