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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

author

Sarah J Beecroft

Macarena Cabrera Serrano

published in: Annals of clinical and translational neurology

date of publication: 2020-03-09

Cites articles 50

Date

Title

Authors

2019-03-27

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Montse Olive, Macarena Cabrera Serrano, Carlo A. Bortolotti, Marcello Pignataro, Haibo Jiang, Alistair Forrest, Nuria Benseny-Cases, Stefan Hofbauer, Christian Obinger, Marco Borsari, Anna Wredenberg, Kristl G Claeys, An Goris, Christoph Freyer, Martin Lammens, Juha Kere, Thomas Sejersen, Nigel G Laing, Isidre Ferrer
2018-02-01

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

Natasha T Strande, Chris Bizon, Jonathan S Berg, Alicia Brandt, Kirk Wilhelmsen
2018-03-26

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

Mahdi Zangi, Montse Olive, Lydia Sagath, Nigel G Laing, Homa Tajsharghi
2018-03-01

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Yi-Chung Lee, Nigel G Laing, Michael Shy, Steven S. Scherer
2018-03-15

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Melissa Martyn, Stephanie Best
2018-04-25

Congenital titinopathy: Comprehensive characterisation and pathogenic insights.

Alan H. Beggs, Smith, John E. 3rd, James Ware, Adam Bournazos, Jaya Punetha, Carole Vuillerot, Payam Mohassel, Luk Ho-Ming, Sian Ellard, Catriona A. McLean, Nanna Witting, Sandra T Cooper, Nigel G Laing, Kathryn North, Susan T. Iannaccone, Monique Ryan, Nigel F Clarke, Sandra Coppens
2018-05-15

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Luke Rynehart, Tiong Y Tan, Khurshid Alam, Rupendra N. Shrestha, Deborah Schofield
2018-07-25

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

Mert Karakaya, Janbernd Kirschner, Brunhilde Wirth
2018-10-01

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

Gabrielle Rudolf, Jean-Louis Mandel
2018-01-01

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Lydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, Katarina Pelin
2018-12-01

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

Marcello Pignataro, Alistair Forrest, Nigel G Laing
2018-09-27

The 2019 version of the gene table of neuromuscular disorders (nuclear genome)
2018-12-12

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

Payam Mohassel, Yves Allenbach
2018-12-11

Recent advances in understanding congenital myopathies

Nigel G Laing
2017-08-21

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases

Sander Pajusalu, Katrin Ounap
2017-05-05

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Sarah J Beecroft, Catriona A. McLean, Nigel G Laing, Martin Delatycki
2017-12-12

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

Jodi Warman Chardon, Eric Bareke, Kym M Boycott, FORGE Canada
2017-06-16

Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease

Hüseyin Demirci, Sevim Erdem Özdamar
2017-11-02

Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience
2017-03-03

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.

Rupendra N. Shrestha, Khurshid Alam, Deborah Schofield, Nigel G Laing, Sandra T Cooper, Kathryn North, Nigel F Clarke
2016-03-30

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

Byung-Ok Choi, Young Bin Hong, Ki Wha Chung, Young Se Hyun
2016-05-11

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Heinz Jungbluth, Renata S Scalco, Robert D S Pitceathly, Nigel G Laing, Anthony H V Schapira, Michael Hanna, Janice Holton
2016-09-01

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Stanislas Lyonnet, Anne Guimier, Christopher T Gordon, Nigel G Laing, Vincent Probst, Richard Redon, Philippe Charron, Agnès Rötig, Loic de Pontual, Jeanne Amiel
2016-11-01

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Alexander Broomfield, Nicholas Lench, Paul Gissen, Philippa B Mills, Sophia Varadkar, Shamima Rahman
2016-09-19

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

William B. Dobyns, Nataliya Di Donato, Nigel G Laing, Gabriele Hahn
2015-02-12

Expanding the phenotype of GMPPB mutations

Kathryn North, Macarena Cabrera Serrano, Nigel G Laing, Nigel F Clarke
2015-03-05

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

Heidi L. Rehm, Julie Gastier-Foster
2015-05-21

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

Flora Nolent, Jérôme Maluenda, Nigel G Laing, Richard Allcock, Judith Melki
2015-09-21

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
2015-10-13

Erratum to: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
2015-12-22

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

Michael G Thor, Nanna Witting, Michael T Gabbett, Karen Joan Suetterlin, Luigi D'Argenzio, Christian Krarup, Xin Cynthia Ye, Nigel G Laing, Hilary Vallance, Roope Mannikko, Michael Hanna
2015-08-13

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Chih-hung Chou

Article - wd:Q90174775

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