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How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC)

Background Parent/patient-reported (PRD) datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders, yet their concordance with clinical data is unclear. Methods In ...
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Clinical manifestations of chromosome 19p13.11 duplication

Background Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of ...
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The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

Background Our study aimed to establish ‘real-world’ performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants who defer risk-reducing ...
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...
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Online First

How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC) ...
jmg.bmj

Rare variants in XRCC2 as breast cancer susceptibility alleles

1 Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands 2 Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands 3 Department of ...
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Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)

1 Department of Clinical Neurosciences, Guy’s, Kings and St. Thomas’ School of Medicine, London, UK 2 Centre for Neuroscience Research, Guy’s, Kings and St. Thomas’ School of Biomedical Sciences, ...
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The human Y chromosome’s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men

1 University of Padova, Department of Medical and Surgical Sciences, Clinica Medica 3, Centre for Male Gamete Cryopreservation, Via Ospedale 105, 35128 Padova, Italy 2 University of Roma “La Sapienza” ...
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Phenotypic variability among patients with hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15

Division of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, Quebec, Canada Objective: To further delineate the phenotypic spectrum of ...
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Bacteria-free minicircle DNA system to generate integration-free CAR-T cells

Background Chimeric antigen receptor T (CAR-T) cells engineered with lentiviral and retroviral vectors have been successfully applied to treat patients with B cell malignancy. However, viral ...
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Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent–clinician interactions

Background Whole genome sequencing (WGS) has recently been introduced as a diagnostic test for patients with particular rare diseases in the National Health Service (NHS) in England. Little is known ...
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MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Correspondence to Dr Rachel H Giles, Department of Nephrology, F03.233, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands; r.giles{at}umcutrecht.nl Conclusions ...