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| 34528717 | A practical guide to genetic testing in endocrinology. | Clin Endocrinol (Oxf) | 2022 |
| 35586607 | Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood. | HGG Adv | 2022 |
| 35871492 | Bi-allelic FRA10AC1 variants in a multisystem human syndrome. | Brain | 2022 |
| 36135330 | Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. | Am J Med Genet A | 2022 |
| 34870338 | Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort. | Clin Endocrinol (Oxf) | 2022 |
| 34558728 | SDHC phaeochromocytoma and paraganglioma: A UK-wide case series. | Clin Endocrinol (Oxf) | 2022 |
| 33960322 | Breast cancer in multiple endocrine neoplasia type 1 (MEN1). | Endocrinol Diabetes Metab Case Rep | 2021 |
| 34418133 | Infantile-onset osteoma cutis with pseudopseudohypoparathyroidism. | Clin Exp Dermatol | 2021 |
| 32430905 | Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort. | Clin Endocrinol (Oxf) | 2020 |
| 33434173 | A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism. | Endocrinol Diabetes Metab Case Rep | 2020 |
| 32686200 | A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma. | Clin Endocrinol (Oxf) | 2020 |
| 32385905 | Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy. | Clin Genet | 2020 |
| 32134721 | Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings. | Endocrinol Diabetes Metab Case Rep | 2020 |
| 30589099 | Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers. | Clin Endocrinol (Oxf) | 2019 |
| 31308404 | SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice. | Sci Rep | 2019 |
| 31331926 | Pathological fracture of non-ossifying fibroma associated with neurofibromatosis type 1. | BMJ Case Rep | 2019 |
| 31096181 | Management of primary hyperparathyroidism in pregnancy: a case series. | Endocrinol Diabetes Metab Case Rep | 2019 |
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| 30890023 | Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel <i>NIPBL</i> Pathogenic Variant. | Pediatr Dev Pathol | 2019 |
| 31168063 | Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. | Nat Genet | 2019 |
| 30909959 | Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. | Genome Med | 2019 |
| 30819258 | De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. | Genome Med | 2019 |
| 29021403 | Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability. | J Med Genet | 2018 |
| 29909963 | Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. | Am J Hum Genet | 2018 |
| 30014507 | Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development. | Ann Neurol | 2018 |
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| 29472987 | Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD). | Endocrinol Diabetes Metab Case Rep | 2018 |
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| 29440723 | Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. | Nat Genet | 2018 |
| 29379197 | BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. | Nat Genet | 2018 |
| 28063088 | Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child. | Neurogenetics | 2017 |
| 28141901 | Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser. | Prenat Diagn | 2017 |
| 28497491 | Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. | Am J Med Genet A | 2017 |
| 28119487 | <i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. | J Med Genet | 2017 |
| 28973655 | Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review. | J Clin Endocrinol Metab | 2017 |
| 28729468 | A case of a metastatic <i>SDHA</i> mutated paraganglioma re-presenting twenty-three years after initial surgery. | Endocr Relat Cancer | 2017 |
| 28620499 | Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation. | Endocrinol Diabetes Metab Case Rep | 2017 |
| 28546994 | SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. | Mol Genet Genomic Med | 2017 |
| 26996280 | Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation. | Am J Med Genet A | 2016 |
| 27479907 | Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. | Nat Genet | 2016 |
| 27525530 | Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. | J Clin Endocrinol Metab | 2016 |
| 27311832 | CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. | Am J Med Genet A | 2016 |
| 26083569 | Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. | J Neuropathol Exp Neurol | 2015 |
| 26493799 | Spontaneous pneumothorax can be associated with TGFBR2 mutation. | Eur Respir J | 2015 |
| 26079862 | De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. | Am J Med Genet A | 2015 |
| 24217912 | The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. | Nucleic Acids Res | 2014 |
| 25476234 | Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. | Acta Neuropathol Commun | 2014 |
| 25125236 | Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. | J Med Genet | 2014 |
| 24680889 | De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. | Am J Hum Genet | 2014 |
| 23332918 | Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. | Am J Hum Genet | 2013 |