[HTML][HTML] Genetic diagnosis of Mendelian disorders via RNA sequencing

LS Kremer, DM Bader, C Mertes, R Kopajtich… - Nature …, 2017 - nature.com
Across a variety of Mendelian disorders,∼ 50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions …

[HTML][HTML] Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

K Vill, O Schwartz, A Blaschek, D Gläser… - Orphanet journal of rare …, 2021 - Springer
Background Spinal muscular atrophy (SMA) is the most common neurodegenerative
disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis …

[HTML][HTML] One year of newborn screening for SMA–results of a German pilot project

K Vill, H Kölbel, O Schwartz, A Blaschek… - Journal of …, 2019 - content.iospress.com
Objective: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease
in childhood. The study was conducted to assess the impact of early detection of SMA by …

[PDF][PDF] Copy-number variations measured by single-nucleotide–polymorphism oligonucleotide arrays in patients with mental retardation

J Wagenstaller, S Spranger… - The American Journal of …, 2007 - cell.com
Whole-genome analysis using high-density single-nucleotide–polymorphism
oligonucleotide arrays allows identification of microdeletions, microduplications, and …

[PDF][PDF] The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat

P Steinbach, D Gläser, W Vogel, M Wolf… - The American Journal of …, 1998 - cell.com
Using methylation-sensitive restriction enzymes, we characterized the methylation pattern
on the 5′ side of the CTG repeat in the DMPK gene of normal individuals and of patients …

Muscle MRI findings in limb girdle muscular dystrophy type 2L

A Sarkozy, M Deschauer, RY Carlier, B Schrank… - Neuromuscular …, 2012 - Elsevier
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive
muscular dystrophy associated with recessive mutations in the ANO5 gene. We analysed …

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

MS Reuter, A Riess, U Moog, TA Briggs… - Journal of medical …, 2017 - jmg.bmj.com
Background Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are
the first known monogenic cause of a speech and language disorder. So far, mainly …

[HTML][HTML] Infants diagnosed with spinal muscular atrophy and 4 SMN2 copies through newborn screening–opportunity or burden?

W Müller-Felber, K Vill, O Schwartz… - Journal of …, 2020 - content.iospress.com
Although the value of newborn screening (NBS) for early detection and treatment
opportunity in SMA patients is generally accepted, there is still an ongoing discussion about …

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

M Kuhn, D Gläser, PR Joshi, S Zierz, S Wenninger… - Journal of …, 2016 - Springer
Limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous and the
diagnostic work-up including conventional genetic testing using Sanger sequencing …

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

RJ Falb, AJ Müller, W Klein, M Grimmel… - Journal of medical …, 2023 - jmg.bmj.com
Background Fetal akinesia (FA) results in variable clinical presentations and has been
associated with more than 166 different disease loci. However, the underlying molecular …