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Contribution of retrotransposition to developmental disorders

Nature communications, 2019-10, Vol.10 (1), p.4630-10, Article 4630

2019

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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.669-679

2017

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Clinical and genetic characterization of AP4B1‐associated SPG47

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.311-318

2018

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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

European journal of human genetics : EJHG, 2015-05, Vol.23 (5), p.610-615

2015

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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Journal of medical genetics, 2014-01, Vol.51 (1), p.61-67

2014

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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

PLoS genetics, 2019-03, Vol.15 (3), p.e1007605-e1007605

2019

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Germline retinoblastoma: estimating risk and counselling the family

Community eye health, 2018, Vol.31 (101), p.8-9

2018

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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Frontiers in cellular neuroscience, 2018-11, Vol.12, p.429-429

2018

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Epidemiological and genetic considerations in retinoblastoma

Community eye health, 2018, Vol.31 (101), p.29-30

2018

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Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

Journal of medical genetics, 2010-10, Vol.47 (10), p.717-720

2010

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Fifteen years of genetic testing from a London developmental clinic

Archives of disease in childhood, 2017-11, Vol.102 (11), p.1014

2017

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Genotypes at the GluR6 Kainate Receptor Locus are Associated with Variation in the Age of Onset of Huntington Disease

Proceedings of the National Academy of Sciences - PNAS, 1997-04, Vol.94 (8), p.3872-3876

1997

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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

European journal of human genetics : EJHG, 2005-09, Vol.13 (9), p.1019-1024

2005

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Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

Neurogenetics, 2007-01, Vol.8 (1), p.39-44

2007

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Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2019-12, Vol.180 (8), p.566-575

2019

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1396-1402

2016

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Erratum: 22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium

European journal of human genetics : EJHG, 2017-10, Vol.25 (11), p.1290-1290

2017

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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

American journal of human genetics, 2007-10, Vol.81 (4), p.713-725

2007

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J1 Predictive testing for huntington’s disease (HD) in the UK 1994 – 2014: changes in age distribution and outcome of results

Journal of neurology, neurosurgery and psychiatry, 2016-09, Vol.87 (Suppl 1), p.A75-A75

2016

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium

European journal of human genetics : EJHG, 2017-11, Vol.25 (11), p.1290-1290

2017

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A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion

Ophthalmic genetics, 2018-06, Vol.39 (3), p.396-398

2018

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Medulloblastoma as a first presentation of fanconi anemia

Journal of pediatric hematology/oncology, 2004-01, Vol.26 (1), p.52-55

2004

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The use of whole-exome sequencing to disentangle complex phenotypes

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.298-301

2016

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Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1640-1645

2015

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Erratum: 22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

European journal of human genetics : EJHG, 2016-09, Vol.24 (10), p.1515-1515

2016

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Contribution of retrotransposition to developmental disorders

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Clinical and genetic characterization of AP4B1‐associated SPG47

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

Germline retinoblastoma: estimating risk and counselling the family

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Epidemiological and genetic considerations in retinoblastoma

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

Fifteen years of genetic testing from a London developmental clinic

Genotypes at the GluR6 Kainate Receptor Locus are Associated with Variation in the Age of Onset of Huntington Disease

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium

Erratum: 22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

J1 Predictive testing for huntington’s disease (HD) in the UK 1994 – 2014: changes in age distribution and outcome of results

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium

A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion

Medulloblastoma as a first presentation of fanconi anemia

The use of whole-exome sequencing to disentangle complex phenotypes

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

Erratum: 22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

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