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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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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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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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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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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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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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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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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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Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

Neuromuscular disorders : NMD, 2010-04, Vol.20 (4), p.241-250

2010

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Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

Journal of investigative dermatology, 1999-10, Vol.113 (4), p.673-686

1999

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Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome: A First Report

Journal of neuropathology and experimental neurology, 2015-04, Vol.74 (4), p.288-292

2015

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Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome

Journal of neuropathology and experimental neurology, 2015-04, Vol.74 (4), p.288-292

2015

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King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene

Neuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.420-427

2011

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Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

Neuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.379-386

2011

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A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity

Brain pathology (Zurich, Switzerland), 2009-10, Vol.19 (4), p.596-611

2009

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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 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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Proof of principle and first cases using preimplantation genetic haplotyping – a paradigm shift for embryo diagnosis

Reproductive biomedicine online, 2006-07, Vol.13 (1), p.110-119

2006

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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

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

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

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

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

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

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

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

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

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome: A First Report

Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity

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

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

Proof of principle and first cases using preimplantation genetic haplotyping – a paradigm shift for embryo diagnosis

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