Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
暂无分享,去创建一个
Kristen M. Laricchia | D. MacArthur | M. Lek | U. Stephani | S. Coppens | K. Claeys | C. Wallgren‐Pettersson | K. Laricchia | J. Lähdetie | T. Mullen | E. Valkanas | S. Mercier | M. Mroczek | T. Mongini | Y. Péréon | C. Ortez | J. Vissing | A. López de Munain | M. Farrugia | N. Witting | A. Magot | M. Ensini | V. Straub | N. Deconinck | A. Bastian | M. von der Hagen | J. Colomer | H. Kölbel | U. Schara | J. Díaz-Manera | T. Willis | A. Duncan | N. Barišić | E. England | C. Longman | J. Baets | S. Specht | P. V. D. Van den Bergh | R. Mazanec | Y. Sznajer | A. Hahn | J. Kirschner | J. Vílchez | A. Töpf | P. Maddison | J. Sertić | S. Nafissi | S. Omidi | A. Majumdar | C. Domínguez-González | M. Zulaica | J. Haberlová | I. Tournev | K. Vill | A. Kostera-Pruszczyk | A. Klein | A. Shatillo | W. De Ridder | H. Durmuş | A. Nascimento | J. Wanschitz | K. Chao | V. Van Parijs | L. Gonzalez-Quereda | J. Duff | J. Alonso-Pérez | T. Chamova | A. Blain | R. Kulshrestha | N. Muelas | P. Martí | Katherine Johnson | E. Akay | Liwen Xu | W. Loscher | A. Lusakowska | M. Layegh | S. Borell | V. Ķēniņa | S. Strang-Karlsson | G. Remiche | A. Jakovčević | S. Kapetanovic | V. Ponzalino | S. Paquay | S. Perić | R. Fernandez-Torron | Manuela Santos | Sabine Rudnik | L. Phillips | M. Bertoli | C. Domínguez‐González | A. Martínez Arroyo | Adam Bates | A. Casasús | Ela Jorge Jonathan Nina Alexandra Sabine Teodora Krist Akay Alonso-Pérez Baets Barisic Bastian Borel | Nagia Fahmy | I. Jericó Pascual | V. R. Rakočević Stojanović | Aida Rodríguez Sainz | Iciar Sanchez Albisua | Ani Tanev | J. Haberlova | Adam K. Bates
[1] M. Hegde,et al. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease , 2020, Orphanet Journal of Rare Diseases.
[2] K. Claeys,et al. POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern , 2020, Acta Neuropathologica.
[3] L. Eichinger,et al. Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation , 2019, Neurology.
[4] J. Vissing,et al. POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy , 2019, Annals of neurology.
[5] B. Asselbergh,et al. Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES , 2019, Neurology: Genetics.
[6] Robert H. Brown,et al. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation , 2019, Annals of clinical and translational neurology.
[7] Wei Zhang,et al. Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients , 2019, Orphanet Journal of Rare Diseases.
[8] M. Hegde,et al. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients , 2018, Annals of clinical and translational neurology.
[9] J. Dowling,et al. Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease , 2018, Neurotherapeutics.
[10] I. Illa,et al. A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement , 2018, Neuromuscular Disorders.
[11] D. MacArthur,et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness , 2018, Skeletal Muscle.
[12] D. MacArthur,et al. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair , 2018, Neuromuscular Disorders.
[13] M. Koenig,et al. A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes. , 2018, The Journal of molecular diagnostics : JMD.
[14] D. MacArthur,et al. Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population , 2018, Journal of Neurology, Neurosurgery, and Psychiatry.
[15] J. Taylor,et al. TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations , 2018, The Journal of clinical investigation.
[16] D. MacArthur,et al. Limb girdle muscular dystrophy due to mutations in POMT2 , 2017, Journal of Neurology, Neurosurgery, and Psychiatry.
[17] F. Rivier,et al. The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome) , 2017, Neuromuscular Disorders.
[18] D. MacArthur,et al. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness , 2017, Orphanet Journal of Rare Diseases.
[19] D. MacArthur,et al. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy , 2017, Orphanet Journal of Rare Diseases.
[20] Funded Statistical Methods groups-AWG,et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing , 2017 .
[21] D. MacArthur,et al. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population , 2017, European Journal of Human Genetics.
[22] M. Lek,et al. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy , 2016, Neuromuscular Disorders.
[23] Beryl B. Cummings,et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. , 2016, American journal of human genetics.
[24] G. Pita,et al. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss , 2016, EMBO molecular medicine.
[25] A. Alazami,et al. A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies , 2016, Human Genomics.
[26] G. Comi,et al. The genetic basis of undiagnosed muscular dystrophies and myopathies , 2016, Neurology.
[27] E. Bertini,et al. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. , 2016, The Journal of clinical investigation.
[28] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[29] Jessica L. Larson,et al. Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project , 2015, BMC Medical Genetics.
[30] C. Angelini,et al. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls , 2015, Muscle & nerve.
[31] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[32] P. Lapunzina,et al. Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin‐deficient congenital muscular dystrophy , 2014, American journal of medical genetics. Part A.
[33] K. Bushby,et al. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation , 2013, Human mutation.
[34] K. Bushby,et al. Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis , 2013, PLoS currents.
[35] Eugenio Mercuri,et al. Muscular dystrophies , 2013, The Lancet.
[36] Kevin M Flanigan,et al. The Muscular Dystrophies , 1999, Seminars in Neurology.
[37] D. Jaffe,et al. Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing , 2012, Science Translational Medicine.
[38] John Wei,et al. Towards a comprehensive structural variation map of an individual human genome , 2010, Genome Biology.
[39] R. Finkel,et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management , 2010, The Lancet Neurology.
[40] S. Engelborghs,et al. Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His , 2009, Neurology.
[41] Joseph T. Glessner,et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. , 2007, Genome research.