• The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis 

  Turnpenny, Peter (Nature, 2019-08-07)

  Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype ...

• Staphylococcus aureus colonization and acquisition of skin and soft tissue infection among Royal Marines recruits: a prospective cohort study 

  Morgan, Marina (Elsevier, 2019-07)

  Skin and soft tissue infections (SSTIs) are a serious health issue for military personnel. Of particular importance are those caused by methicillin-resistant Staphylococcus aureus and Panton-Valentine leucocidin (PVL)-positive ...

• A HaemSTAR-led, UK-wide ‘flash-mob’ audit of ­intravenous immunoglobulin use in immune ­thrombocytopenia 

  Kerr, Jonathan; Martin, Abi (Clinical Medicine, 2019-06)

• Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability 

  Turnpenny, Peter (BioMed Central, 2019-07)

  A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate ...

• Updated prevalence of monogenic diabetes in Australia: Fremantle Diabetes Study Phase 2 

  Colclough, Kevin (Wiley, 2019-08)

• A middle aged man with back pain and heavy legs 

  Chanchlani, Neil (BMJ, 2019-07)

• Assessment of a home-based standing frame programme in people with progressive multiple sclerosis (SUMS): a pragmatic, multi-centre, randomised, controlled trial and cost-effectiveness analysis 

  Jarrett, Louise (Elsevier, 2019-08)

  People severely impaired with progressive multiple sclerosis spend much of their day sitting, with very few options to improve motor function. As a result, secondary physical and psychosocial complications can occur. ...

• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 

  Rankin, Julia (Nature, 2019-07)

  AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at ...

• The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma: A systematic review 

  Fussey, Jonathan Mark; Vaidya, Bijay; Ellard, Sian; Smith, Joel Anthony (Wiley, 2019-12)

  The significant variation in the clinical behaviour of sporadic medullary thyroid carcinoma (sMTC) causes uncertainty when planning the management of these patients. Several tumour genetic and epigenetic markers have been ...

• Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population 

  Wakeling, MN; Patel, K; McDonald, Timothy J.; Ellard, Sian; Hattersley, Andrew T.; Colclough, Kevin (Wiley, 2019-07)

  AIM To examine the extent to which discriminatory testing using antibodies and Type 1 diabetes genetic risk score, validated in European populations, is applicable in a non-European population. METHODS: We recruited 127 ...

• Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases 

  Ellard, Sian; Baptista, Julia; Gunning, Adam (Cell Press, 2019-08)

  Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. As such, many developmental disorders are caused by ...

• Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report 

  De Franco, Elisa (Wiley, 2019-05)

  Wolcott-Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired ...

• Some scars do not run deep: the qualitative and quantitative nature of neonatal Seldinger pigtail chest drain scars 

  Bartle, David (Sage, 2019-06)

  Pneumothorax is a complication of respiratory distress syndrome, of which many preterm babies suffer. If significant, these pneumothoraces can be treated by the insertion of a chest drain. There are a number of different ...

• De novo variants in CNOT3 cause a variable neurodevelopmental disorder 

  Kivuva, Emma (Nature, 2019-11)

  As a result of exome-based sequencing work performed by the DDD study, de novo variants in CNOT3 have emerged as a newly recognised cause of a developmental disorder. This paper describes molecular and clinical details of ...

• Delineating the expanding phenotype associated with SCAPER gene mutation 

  Fasham, James; Baple, Emma L.; Crosby, Andrew (Wiley, 2019-08)

• Trainee doctors' experiences of common problems in the antibiotic prescribing process: an activity theory analysis of narrative data from UK hospitals 

  Parker, Hazel (BMJ, 2019-06)

  Prescribing antibiotics is an error-prone activity and one of the more challenging responsibilities for doctors in training. The nature and extent of challenges experienced by them at different stages of the antibiotic ...

• 14 month old boy with abrupt-onset petechiae and bruising 

  Chanchlani, Neil (BMJ, 2019-06-05)

• BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan 

  Crosby, Andrew; Baple, Emma L. (Wiley, 2019-11)

  Ciliopathies are a clinically and genetically heterogeneous group of disorders often exhibiting phenotypic overlap and caused by abnormalities in the structure or function of cellular cilia. As such, a precise molecular ...

• Interventions for the treatment of Paget's disease of the vulva 

  Edey, Katharine A. (Wiley, 2019-06-05)

  This is an updated version of the original Cochrane Review published in Issue 10, 2013.Extramammary Paget's disease is a rare form of superficial skin cancer. The most common site of involvement is the vulva. It is seen ...

• Pathological chemotherapy response score is prognostic in tubo-ovarian high-grade serous carcinoma: A systematic review and meta-analysis of individual patient data 

  Mandalia, Trupti (Elsevier, 2019-08)

  There is a need to develop and validate biomarkers for treatment response and survival in tubo-ovarian high-grade serous carcinoma (HGSC). The chemotherapy response score (CRS) stratifies patients into complete/near-complete ...

View more