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Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Scientific reports, 2016-02, Vol.6 (1), p.21746-21746, Article 21746

2016

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Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

Genome medicine, 2022-07, Vol.14 (1), p.77-16, Article 77

2022

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A practical guide to genetic testing in endocrinology

Clinical endocrinology (Oxford), 2022-10, Vol.97 (4), p.388-399

2022

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

American journal of human genetics, 2017-07, Vol.101 (1), p.139-148

2017

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A comparison of methods for EGFR mutation testing in non-small cell lung cancer

Diagnostic molecular pathology, 2013-12, Vol.22 (4), p.190-195

2013

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Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective

Clinical endocrinology (Oxford), 2021-08, Vol.95 (2), p.295-302

2021

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Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort

The journal of clinical endocrinology and metabolism, 2015-03, Vol.100 (3), p.E531-E541

2015

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The contribution of X-linked coding variation to severe developmental disorders

Nature communications, 2021-01, Vol.12 (1), p.627-627, Article 627

2021

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AIP variant causing familial prolactinoma

Pituitary, 2021-02, Vol.24 (1), p.48-52

2021

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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Human genetics, 2016-05, Vol.135 (5), p.569-586

2016

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Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

Journal of medical genetics, 2024-03, Vol.61 (4), p.305-312

2024

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SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

Clinical endocrinology (Oxford), 2016-05, Vol.84 (5), p.715-719

2016

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TECPR2‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine

American journal of medical genetics. Part A, 2024-07, Vol.194 (7), p.e63579-n/a

2024

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SOS 1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

Clinical endocrinology (Oxford), 2016-05, Vol.84 (5), p.715-719

2016

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A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies

Genetics in medicine, 2013-08, Vol.15 (8), p.650-657

2013

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Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification

Rheumatology (Oxford, England), 2012-10, Vol.51 (10), p.1919-1921

2012

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Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1

Clinical endocrinology (Oxford), 2008-03, Vol.68 (3), p.350-354

2008

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Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Journal of medical genetics, 2016-11, Vol.53 (11), p.776-785

2016

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Germline mutations in the CDKN1B gene encoding p27Kip1 are a rare cause of multiple endocrine neoplasia type 1

Clinical endocrinology (Oxford), 2009-03, Vol.70 (3), p.499-500

2009

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Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1

Clinical endocrinology (Oxford), 2009-03, Vol.70 (3), p.499-500

2009

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Penetrance of MEN2A-causing RET mutations in clinically unselected population is very low - important implications for clinical practice

Endocrine Abstracts, 2023-10

2023

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A large in-frame deletion of the calcium-sensing receptor extracellular domain causes familial hypocalciuric hypercalcaemia type 1 (FHH1) and is partially responsive to cinacalcet

Endocrine Abstracts, 2023-10

2023

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Hepatocyte nuclear factor-1 gene deletions--a common cause of renal disease

Nephrology, dialysis, transplantation, 2007-10, Vol.23 (2), p.627-635

2007

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A rare case of MEN 4 presenting with hypercalcaemia in a patient with microprolactinoma 6 years after the diagnosis

Endocrine Abstracts, 2017-10

2017

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Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

A practical guide to genetic testing in endocrinology

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

A comparison of methods for EGFR mutation testing in non-small cell lung cancer

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective

Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort

The contribution of X-linked coding variation to severe developmental disorders

AIP variant causing familial prolactinoma

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

TECPR2‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine

SOS 1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification

Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Germline mutations in the CDKN1B gene encoding p27Kip1 are a rare cause of multiple endocrine neoplasia type 1

Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1

Penetrance of MEN2A-causing RET mutations in clinically unselected population is very low - important implications for clinical practice

A large in-frame deletion of the calcium-sensing receptor extracellular domain causes familial hypocalciuric hypercalcaemia type 1 (FHH1) and is partially responsive to cinacalcet

Hepatocyte nuclear factor-1 gene deletions--a common cause of renal disease

A rare case of MEN 4 presenting with hypercalcaemia in a patient with microprolactinoma 6 years after the diagnosis

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