Neuromuscular disorders: finding the missing genetic diagnoses
Neuromuscular disorders (NMDs) are a wide-ranging group of diseases that seriously affect
the quality of life of affected individuals. The development of next-generation sequencing …
the quality of life of affected individuals. The development of next-generation sequencing …
Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency
J Tenorio‐Castano, ÁSA Gómez, M Coronado… - Clinical …, 2023 - Wiley Online Library
Abstract Lamb–Shaffer Syndrome (LSS; OMIM# 616803; ORPHA# 313892; ORPHA#
313884) is an infrequent genetic disorder that affects multiple aspects of human …
313884) is an infrequent genetic disorder that affects multiple aspects of human …
Genetic landscape of Parkinson's disease and related diseases in Luxembourg
Z Landoulsi, S Pachchek, DR Bobbili… - Frontiers in Aging …, 2023 - frontiersin.org
Objectives To explore the genetic architecture of PD in the Luxembourg Parkinson's Study
including cohorts of healthy people and patients with Parkinson's disease (PD) and atypical …
including cohorts of healthy people and patients with Parkinson's disease (PD) and atypical …
Visualization for diagnostic review of copy number variants in complex DNA sequencing data
Genomics is at the core of precision medicine, and there are high expectations on genomics-
enabled improvement of patient outcomes in the years to come. Around the world, initiatives …
enabled improvement of patient outcomes in the years to come. Around the world, initiatives …
The thorny complexities of visualization research for clinical settings: A case study from genomics
In this perspective article we discuss a certain type of research on visualization for
bioinformatics data, namely, methods targeting clinical use. We argue that in this subarea …
bioinformatics data, namely, methods targeting clinical use. We argue that in this subarea …
Control-FREEC viewer: a tool for the visualization and exploration of copy number variation data
Abstract Background Copy number alterations (CNAs) are genetic changes commonly found
in cancer that involve different regions of the genome and impact cancer progression by …
in cancer that involve different regions of the genome and impact cancer progression by …
A novel case of 16q22. 3 duplication syndrome in a child with overgrowth: case report and literature review
A Moschella, AP Capra, D Corica, G Pepe… - BMC Medical …, 2023 - Springer
Background Distal chromosome 16 duplication syndrome (also known as 16q partial
trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy …
trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy …