Ian R. Berry
Leeds Teaching Hospitals NHS Trust
GeneExomeCopy-number variationInternal medicinePhenotypeObstetricsPathologyExome sequencingMedical microbiologyCohort studyLeukodystrophyLynch syndromeAmelogenesis imperfectaGenetic testingGeneticsBioinformaticsMedical geneticsComputational biologyMedicineMissense mutationBiology
Publications 33
#1Alice GarrettH-Index: 6
#2Miranda DurkieH-Index: 1
Last. Anneke LucassenH-Index: 49
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Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence has been much improved by the American College of Medical Genetics (ACMG) 2015 framework for variant classification, UK Association for Clinical Genomic Science (UK-ACGS) Best Practice Guidelines and subsequent Cancer Variant Interpretation Group UK (CanVIG-UK) consensus specific...
#1Dmitrijs Rots (Radboud University Nijmegen)
#2Eric Chater-Diehl (U of T: University of Toronto)H-Index: 2
Last. Rosanna Weksberg (U of T: University of Toronto)H-Index: 77
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Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants either proximal (n = 28) or distal (n = 5) to the FLHS locus. Detailed clinical characterization of the proximal SRCAP indi...
#1L Ingoe (Newcastle upon Tyne Hospitals NHS Foundation Trust)H-Index: 3
#2Aimee Potter (Newcastle upon Tyne Hospitals NHS Foundation Trust)
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Abstract Objectives To validate a nurse-led process using electronic health records to identify those at risk of Familial Hypercholesterolaemia (FH) for genetic diagnosis in primary care. Design Those at risk of FH were identified using searches developed and refined locally and implemented in primary care by a trained nurse; they were invited for further assessment and genetic testing if indicated. Clinical cohort study. Setting Nine GP practises in North East England. Participants Individuals ...
#1Alice GarrettH-Index: 6
#2Chey LovedayH-Index: 17
Last. Clare TurnbullH-Index: 53
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#1Claire Stockdale (St James's University Hospital)H-Index: 1
#2Laura Rice (St James's University Hospital)H-Index: 2
Last. Sinisa Savic (NIHR: National Institute for Health Research)H-Index: 33
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#1Georgios Nikolopoulos (University of Leeds)H-Index: 2
#1Georgios K. Nikolopoulos (University of Leeds)H-Index: 33
Last. Alan J. Mighell (St James's University Hospital)H-Index: 25
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Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of ten families with recessive hypomaturation AI revealed 4 novel and 1 known variants in the matrix metallopeptidase 20 (MMP20) gene that were predicted to be pathogenic. MMP20 encodes a protease that cleaves the developing extracellular enamel matrix and is necessary for normal enamel crystal growth during amelogenesis. New homozygous missense...
#1Schaida Schirwani (Leeds Teaching Hospitals NHS Trust)H-Index: 5
#2Kay Metcalfe (St Mary's Hospital)H-Index: 30
Last. Rosalyn Jewell (Leeds Teaching Hospitals NHS Trust)H-Index: 9
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Abstract Musculocontractural Ehlers-Danlos syndrome (mcEDS) is an autosomal recessive condition characterized by distinct craniofacial features, multisystem congenital malformations and progressive fragility of connective tissues. It is caused by pathogenic variants in CHST14 and DSE genes. There are three reports of pathogenic variants in DSE in four mcEDS patients. In this study we provide clinical and molecular presentation of two new patients with DSE related mcEDS. Analysing clinical exome ...
5 CitationsSource
#1Alice GarrettH-Index: 6
Last. CanVIG-UKH-Index: 1
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Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical sequencing has increased dramatically; and the range of clinical professionals involved in the process has broadened. There is general acceptance that our early dichotomous paradigms of variants being pathogenic-high risk and benign-no risk are overly simplistic. There is increasi...
4 CitationsSource
#1Bevin Bhoyrul (Chapel Allerton Hospital)H-Index: 6
#1Bevin Bhoyrul (Chapel Allerton Hospital)H-Index: 2
Last. Sheila Clark (Chapel Allerton Hospital)H-Index: 2
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: Angiokeratoma corporis diffusum refers to symmetrical clusters of minute red papules in a "bathing trunk" distribution and is considered the cutaneous hallmark of Fabry disease. Acid sphingomyelinase deficiency is an autosomal recessive sphingolipidosis, which presents with massive hepatosplenomegaly, pulmonary infiltrates, and skeletal abnormalities. We present the unusual case of a 12-year-old girl with acid sphingomyelinase deficiency who developed characteristic lesions of angiokeratoma co...