Explanipedia

Pigment Epithelium Derived Factor Drives Melanocyte Proliferation and Migration in Neurofibromatosis Café Au Lait Macules Open

Charlotte Lovatt, Megan Williams, Alex Gibbs, A. Mukhtar, Huw Morgan , et al. · 2024

Background RASopathies, which include neurofibromatosis type 1 (NF1), are defined by Ras/mitogen-activated protein kinase (Ras/MAPK) pathway activation. They represent a group of clinically related disorders often characterised by multiple…

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review Open

Laurence Pacot, Milind Girish, Samantha J.L. Knight, Gill Spurlock, Vinod Varghese , et al. · 2024

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases Open

Alistair T. Pagnamenta, Carlos Camps, Edoardo Giacopuzzi, John Taylor, Mona Hashim , et al. · 2023

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma Open

Hannah Roberts, Maria Lopopolo, Alistair T. Pagnamenta, Eshita Sharma, Duncan Parkes , et al. · 2021

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations Open

Nicolas Chatron, Giuliana Giannuzzi, Pierre‐Antoine Rollat‐Farnier, Flavie Diguet, Eleonora Porcu , et al. · 2020

Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia Open

Jenny Klintman, Niamh Appleby, Basile Stamatopoulos, Katie Ridout, Toby A. Eyre , et al. · 2020

The transformation of chronic lymphocytic leukemia (CLL) to high-grade B-cell lymphoma is known as Richter syndrome (RS), a rare event with dismal prognosis. In this study, we conducted whole-genome sequencing (WGS) of paired circulating C…

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma Open

Hannah Roberts, Maria Lopopolo, Alistair T. Pagnamenta, Eshita Sharma, Duncan Parkes , et al. · 2020

Recent advances in throughput and accuracy mean that the Oxford Nanopore Technologies (ONT) PromethION platform is a now a viable solution for genome sequencing. Much of the validation of bioinformatic tools for this long-read data has foc…

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma Open

Helen Winter, Pamela J. Kaisaki, Joe Harvey, Edoardo Giacopuzzi, Matteo P. Ferla , et al. · 2019

Intrahepatic cholangiocarcinoma (ICC) is an aggressive cancer arising from the bile ducts with a need for earlier diagnosis and a greater range of treatment options. KRAS/NRAS mutations are common in ICC tumours and 6–32% of patients also …

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom Open

Katharina Schwarze, James Buchanan, Jilles M. Fermont, Hélène Dreau, Mark Tilley , et al. · 2019

PF376 DIFFERENTIAL GENOMIC AND TRANSCRIPTOMIC EVENTS ASSOCIATED WITH HIGH-GRADE TRANSFORMATION OF CHRONIC LYMPHOCYTIC LEUKEMIA Open

Jenny Klintman, Basile Stamatopoulos, Kate Ridout, Toby A. Eyre, L. Lopez Pascua , et al. · 2019

Background: The high-grade transformation of chronic lymphocytic leukemia (CLL), also called Richter's Syndrome (RS), carries a dismal prognosis. RS shares the histological characteristics with diffuse large B-cell lymphoma (DLBCL), but it…

Differential genomic and transcriptomic events associated with high-grade transformation of Chronic Lymphocytic Leukemia Open

Jenny Klintman, Basile Stamatopoulos, Katie Ridout, Toby A. Eyre, Laura Lopez Pascua , et al. · 2019

The transformation of chronic lymphocytic leukemia (CLL) to high-grade diffuse large B-cell lymphoma (DLBCL), also called Richter’s Syndrome (RS), is a rare cancer with dismal prognosis. Drug discovery for RS is hampered by the lack of sui…

Clinical spectrum of STX1B-related epileptic disorders Open

Stefan Wolking, Patrick May, Davide Mei, Rikke S. Møller, Simona Balestrini , et al. · 2019

Objective The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin- 1B, and establish genotype-phenotype correlations by identifying further disease related variants…

Issue information ‐ TOC Open

B. Jacobson, Adrian V. S. Hill, Aofeng Shen, Elie Haddad, David J. Hunter‐Smith , et al. · 2018

Issue Information Open

Aimée T. Classen, Brian D. Inouye, William K. Michener, Rich Pouyat, Laura Huenneke , et al. · 2018

Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors Open

Gemma Moir-Meyer, Pak Leng Cheong, Aude-Anaïs Olijnik, Jill M. Brown, Samantha J.L. Knight , et al. · 2018

The study of cellular processes and gene regulation in terminal erythroid development has been greatly facilitated by the generation of an immortalised erythroid cell line derived from Human Umbilical Derived Erythroid Precursors, termed H…

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease Open

Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier , et al. · 2018

Key Points Mutations in a VHL cryptic exon may be found in patients with familial erythrocytosis or VHL disease. Synonymous mutations in VHL exon 2 may induce exon skipping and cause familial erythrocytosis or VHL disease.

Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL Open

Jenny Klintman, Katerina Barmpouti, Samantha J.L. Knight, Pauline Robbe, Hélène Dreau , et al. · 2018

Summary The 100 000 Genome Project aims to develop a diagnostics platform by introducing whole genome sequencing (WGS) into clinical practice. Samples from patients with chronic lymphocytic leukaemia were subjected to WGS. WGS detection of…

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing Open

Anna Schuh, Hélène Dreau, Samantha J.L. Knight, Kate Ridout, Tuba Mizani , et al. · 2018

Next-generation sequencing (NGS) efforts have established catalogs of mutations relevant to cancer development. However, the clinical utility of this information remains largely unexplored. Here, we present the results of the first eight p…

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project Open

Pauline Robbe, Niko Popitsch, Samantha J.L. Knight, Pavlos Antoniou, Jennifer Becq , et al. · 2018

Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis Open

James Buchanan, Sarah Wordsworth, Ruth Clifford, Pauline Robbe, Jenny C. Taylor , et al. · 2017

Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups Open

Adam Burns, Reem Alsolami, Jennifer Becq, Basile Stamatopoulos, Adele Timbs , et al. · 2017

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer Open

Karin Purshouse, Anna Schuh, Benjamin P. Fairfax, Samantha J.L. Knight, Pavlos Antoniou , et al. · 2017

Whole-genome sequencing (WGS) has transformed the understanding of the genetic drivers of cancer and is increasingly being used in cancer medicine to identify personalized therapies. Here we describe a case in which the application of WGS …

Issue Information Open

Kerstin Poeschl, Vienna Schalleck, D. Abendroth, Ulm Adey, Francisco Al-Aly , et al. · 2016

Inhibition of cytotoxicityKIR2DL1 KIR2DL2 Lack of cognate HLA-C2 group Cognate HLA-C1 group Cognate HLA-C2

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction Open

Robert Hastings, Carin P. de Villiers, Charlotte Hooper, Elizabeth Ormondroyd, Alistair T. Pagnamenta , et al. · 2016

Background— High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mut…

Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities Open

Alistair T. Pagnamenta, Malcolm F. Howard, Samantha J.L. Knight, David A. Keays, Gerardine Quaghebeur , et al. · 2016

Key Clinical Message This report constitutes the first report of a cryptic exonic splice‐donor site in CDK 5 RAP 2 , highlights the importance of evaluating novel splice mutations, and suggests that the phenotypic range associated with CDK…

Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia Open

Helen Parker, Matthew Rose‐Zerilli, Marta Larráyoz, Ruth Clifford, Jennifer Edelmann , et al. · 2016

Identification of Intragenic Exon Deletions and Duplication ofTCF12by Whole Genome or Targeted Sequencing as a Cause ofTCF12-Related Craniosynostosis Open

Jacqueline A.C. Goos, Aimée L Fenwick, Sigrid M. A. Swagemakers, Simon J. McGowan, Samantha J.L. Knight , et al. · 2016

TCF12-related craniosynostosis can be caused by small heterozygous loss-of-function mutations in TCF12. Large intragenic rearrangements, however, have not been described yet. Here, we present the identification of four large rearrangements…

Ade novoframeshift inHNRNPKcausing a Kabuki-like syndrome with nodular heterotopia Open

Leslie A. Lange, A. T. Pagnamenta, Stefano Lise, Steven Clasper, Helen Stewart , et al. · 2016

Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, skeletal abnormalities and a range of organ malformations. Although at least two major causative genes …

Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL Open

Romain Guièze, Pauline Robbe, Ruth Clifford, Sophie de Guibert, Bruno Pereira , et al. · 2015

Key Points Targeted NGS of relapsed/refractory CLL reveals a high incidence of concurrent mutations that mostly affect the TP53, ATM, and SF3B1 genes. Concurrent mutations of the TP53, ATM, and/or SF3B1 genes confer short survival in patie…

Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies Open

Biljana Ilkovski, Alistair T. Pagnamenta, Gina O’Grady, Taroh Kinoshita, Malcolm F. Howard , et al. · 2015

Glycosylphosphatidylinositol (GPI)-anchored proteins are ubiquitously expressed in the human body and are important for various functions at the cell surface. Mutations in many GPI biosynthesis genes have been described to date in patients…

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