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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

Neuromuscular disorders : NMD, 2017-09, Vol.27 (9), p.793-803

2017

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The clinical presentation caused by truncating CHD8 variants

Clinical genetics, 2019-07, Vol.96 (1), p.72-84

2019

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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

Orphanet journal of rare diseases, 2017-09, Vol.12 (1), p.151-151, Article 151

2017

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αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

Proceedings of the National Academy of Sciences - PNAS, 2015-04, Vol.112 (15), p.E1898-E1907

2015

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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Orphanet journal of rare diseases, 2017-11, Vol.12 (1), p.173-173, Article 173

2017

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Identification of CANT1 Mutations in Desbuquois Dysplasia

American journal of human genetics, 2009-11, Vol.85 (5), p.706-710

2009

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Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

Neuromuscular disorders : NMD, 2016-02, Vol.26 (2), p.111-125

2016

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408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status

Congenital anomalies, 2015-02, Vol.55 (1), p.65-70

2015

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Brown Tumour in a Patient with Secondary Hyperparathyroidism Resistant to Medical Therapy: Case Report on Successful Treatment after Subtotal Parathyroidectomy

International journal of endocrinology, 2009-01, Vol.2009, p.827652-3

2009

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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Blood, 2016-06, Vol.127 (23), p.2791-2803

2016

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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Brain (London, England : 1878), 2015-09, Vol.138 (Pt 9), p.2493-2504

2015

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Genetics in medicine, 2020-09, Vol.22 (9), p.1478-1488

2020

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Genetics in medicine, 2020-09, Vol.22 (9), p.1478-1488

2020

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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Genetics in medicine, 2022-11, Vol.24 (11), p.2351-2366

2022

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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

American journal of human genetics, 2024-08, Vol.111 (8), p.1626-1642

2024

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The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

European journal of human genetics : EJHG, 2024-07, Vol.32 (7), p.864-870

2024

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Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

Neuromuscular disorders : NMD, 2017-09, Vol.27 (9), p.861-872

2017

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De novo missense variants in FBXO11 alter its protein expression and subcellular localization

Human molecular genetics, 2022-02, Vol.31 (3), p.440-454

2022

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Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene

Clinical genetics, 2019-02, Vol.95 (2), p.336-338

2019

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Multidisciplinary Clinics

Journal of pediatric orthopaedics, 2017-07, Vol.37 Suppl 1 (Supplement 1), p.S29-S30

2017

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Nine newly identified individuals refine the phenotype associated with MYT1L mutations

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1021-1031

2020

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Extending the clinical and mutational spectrum of TRIM32 -related myopathies in a non-Hutterite population

Journal of neurology, neurosurgery and psychiatry, 2019-04, Vol.90 (4), p.490

2019

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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.557-564

2019

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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

The clinical presentation caused by truncating CHD8 variants

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Identification of CANT1 Mutations in Desbuquois Dysplasia

Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status

Brown Tumour in a Patient with Secondary Hyperparathyroidism Resistant to Medical Therapy: Case Report on Successful Treatment after Subtotal Parathyroidectomy

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene

'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

Multidisciplinary Clinics

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

Extending the clinical and mutational spectrum of TRIM32 -related myopathies in a non-Hutterite population

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

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