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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

The Lancet (British edition), 2011-08, Vol.378 (9791), p.595-605

2011

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EMQN best practice guidelines for genetic testing in dystrophinopathies

European journal of human genetics : EJHG, 2020-09, Vol.28 (9), p.1141-1159

2020

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Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

International Journal of Endocrinology, 2015-01, Vol.2015, p.138573-8

2015

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Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

Annals of neurology, 2006-11, Vol.60 (5), p.603-610

2006

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PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1884-1894

2019

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Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1354-n/a

2020

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Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

The Lancet (British edition), 2001-09, Vol.358 (9287), p.1057-1061

2001

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Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report

BMC nephrology, 2017-07, Vol.18 (1), p.234-234, Article 234

2017

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Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.53-61

2008

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Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

Endocrinology, diabetes & metabolism case reports, 2018-02, Vol.2018 (1), p.1-5

2018

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COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

Journal of the American Society of Nephrology, 2013-12, Vol.24 (12), p.1945-1954

2013

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Whole-genome sequencing of patients with rare diseases in a national health system

Nature (London), 2020-07, Vol.583 (7814), p.96-102

2020

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Intensive care medicine, 2019-05, Vol.45 (5), p.627-636

2019

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Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.494-502

2019

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Lancet neurology, 2022-03, Vol.21 (3), p.234-245

2022

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Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Brain (London, England : 1878), 2007-10, Vol.130 (10), p.2725-2735

2007

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Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

European journal of human genetics : EJHG, 1998-09, Vol.6 (5), p.467-474

1998

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Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.369-377

2019

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Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

Neuromuscular disorders : NMD, 2010-06, Vol.20 (6), p.422-427

2010

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Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Annals of neurology, 2008-11, Vol.64 (5), p.573-582

2008

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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

EMQN best practice guidelines for genetic testing in dystrophinopathies

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

Whole-genome sequencing of patients with rare diseases in a national health system

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

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