Browsing by Author "Thompson, Rachel"

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  • A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
    Thompson, Rachel; Abicht, Angela; Beeson, David; Engel, Andrew G.; Eymard, Bruno; Maxime, Emmanuel; Lochmüller, Hanns (BioMed Central, 2018)
    Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly ...
  • Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity
    Matalonga, Leslie; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis Alberto; Riess, Olaf; Gut, Ivo Glynne; van Ommen, Gert-Jan; Lochmüller, Hanns; Beltran, Sergi; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors (Elsevier, 2020)
    Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical genetic studies. More than 2400 exome sequencing data sets were analyzed and screened for autozygosity ...
  • Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder
    Thompson, Rachel; Papakonstantinou Ntalis, Anastasios; Beltran, Sergi; Topf, Ana; de Paula Estephan, Eduardo; Poloavarapu, Kiran; Hoen, Peter A. C.; Missier, Paolo; Lochmüller, Hanns (Wiley-VCH Verlag, 2019)
    Phenotype-based filtering and prioritization contribute to the interpretation of genetic variants detected in exome sequencing. However, it is currently unclear how extensive this phenotypic annotation should be. In this ...
  • RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
    Lochmüller, Hanns; Badowska, Dorota M.; Thompson, Rachel; Knoers, Nine V.; Aartsma-Rus, Annemieke; Gut, Ivo Glynne; Wood, Libby; Harmuth, Tina; Durudas, Andre; Graessner, Holm; Schaefer, Franz; Riess, Olaf; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium (Nature Research, 2018)
    Although individually uncommon, rare diseases (RDs) collectively affect 6-8% of the population. The unmet need of the rare disease community was recognized by the European Commission which in 2012 funded three flagship ...
  • Severe neurodevelopmental disease caused by a homozygous TLK2 variant
    Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven, 1973-; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita (Springer, 2020)
    A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All ...
  • Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome
    Thompson, Rachel; Bonne, Gisèle; Missier, Paolo; Lochmüller, Hanns (Portland Press, 2019)
    Despite recent scientific advances, most rare genetic diseases - including most neuro-muscular diseases - do not currently have curative gene-based therapies available. However, in some cases, such as vitamin, cofactor or ...
  • Targeted therapies for metabolic myopathies related to glycogen storage and lipid metabolism: a systematic review and steps towards a 'Treatabolome'
    Manta, Alexander; Spendiff, Sally; Lochmüller, Hanns; Thompson, Rachel (IOS Press, 2021)
    Background: Metabolic myopathies are a heterogenous group of muscle diseases typically characterized by exercise intolerance, myalgia and progressive muscle weakness. Effective treatments for some of these diseases are ...