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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Published in:
Journal of Pathology, 2018, v. 245, n. 3, p. 283, doi. 10.1002/path.5081
By:
- Temko, Daniel;
- Van Gool, Inge C.;
- Rayner, Emily;
- Glaire, Mark;
- Makino, Seiko;
- Brown, Matthew;
- Chegwidden, Laura;
- Palles, Claire;
- Depreeuw, Jeroen;
- Beggs, Andrew;
- Stathopoulou, Chaido;
- Mason, John;
- Baker, Ann‐Marie;
- Williams, Marc;
- Cerundolo, Vincenzo;
- Rei, Margarida;
- Taylor, Jenny C.;
- Schuh, Anna;
- Ahmed, Ahmed;
- Amant, Frédéric
Publication type:
Article
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
By:
- Pagnamenta, Alistair T;
- Lise, Stefano;
- Harrison, Victoria;
- Stewart, Helen;
- Jayawant, Sandeep;
- Quaghebeur, Gerardine;
- Deng, Alexander T;
- Murphy, Valerie Elizabeth;
- Akha, Elham Sadighi;
- Rimmer, Andy;
- Mathieson, Iain;
- Knight, Samantha JL;
- Kini, Usha;
- Taylor, Jenny C;
- Keays, David A
Publication type:
Article
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21878-x
By:
- Baxley, Ryan M.;
- Leung, Wendy;
- Schmit, Megan M.;
- Matson, Jacob Peter;
- Yin, Lulu;
- Oram, Marissa K.;
- Wang, Liangjun;
- Taylor, John;
- Hedberg, Jack;
- Rogers, Colette B.;
- Harvey, Adam J.;
- Basu, Debashree;
- Taylor, Jenny C.;
- Pagnamenta, Alistair T.;
- Dreau, Helene;
- Craft, Jude;
- Ormondroyd, Elizabeth;
- Watkins, Hugh;
- Hendrickson, Eric A.;
- Mace, Emily M.
Publication type:
Article
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2521, doi. 10.1002/ajmg.a.61814
By:
- Stevenson, Mark;
- Pagnamenta, Alistair T.;
- Reichart, Silvia;
- Philpott, Charlotte;
- Lines, Kate E.;
- Gorvin, Caroline M.;
- Lhotta, Karl;
- Taylor, Jenny C.;
- Thakker, Rajesh V.
Publication type:
Article
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2988, doi. 10.1002/ajmg.a.37755
By:
- Piret, Sian E.;
- Gorvin, Caroline M.;
- Trinh, Anne;
- Taylor, John;
- Lise, Stefano;
- Taylor, Jenny C.;
- Ebeling, Peter R.;
- Thakker, Rajesh V.
Publication type:
Article
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2577, doi. 10.1002/ajmg.a.35558
By:
- Pagnamenta, Alistair T.;
- Murray, Jennie E.;
- Yoon, Grace;
- Akha, Elham Sadighi;
- Harrison, Victoria;
- Bicknell, Louise S.;
- Ajilogba, Kaseem;
- Stewart, Helen;
- Kini, Usha;
- Taylor, Jenny C.;
- Keays, David A.;
- Jackson, Andrew P.;
- Knight, Samantha J.L.
Publication type:
Article
Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL.
Published in:
British Journal of Haematology, 2018, v. 182, n. 3, p. 412, doi. 10.1111/bjh.15406
By:
- Klintman, Jenny;
- Barmpouti, Katerina;
- Knight, Samantha J. L.;
- Robbe, Pauline;
- Dreau, Hélène;
- Clifford, Ruth;
- Ridout, Kate;
- Burns, Adam;
- Timbs, Adele;
- Bruce, David;
- Antoniou, Pavlos;
- Sosinsky, Alona;
- Becq, Jennifer;
- Bentley, David;
- Hillmen, Peter;
- Taylor, Jenny C.;
- Caulfield, Mark;
- Schuh, Anna H.
Publication type:
Article
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Published in:
Nature Genetics, 2015, v. 47, n. 7, p. 717, doi. 10.1038/ng.3304
By:
- Taylor, Jenny C;
- Copley, Richard R;
- Craft, Jude;
- Howard, Malcolm;
- Pagnamenta, Alistair;
- Popitsch, Niko;
- Tomlinson, Ian;
- Bull, Katherine;
- Cais, Ondrej;
- Greger, Ingo H;
- Cario, Holger;
- Chapel, Helen;
- Patel, Smita Y;
- van Schouwenburg, Pauline A;
- Cornall, Richard;
- Dahan, Karin;
- Dendrou, Calliope;
- Fugger, Lars;
- Devuyst, Olivier;
- Fenwick, Aimée L
Publication type:
Article
Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe.
Published in:
2014
By:
- Hamilton, Alexander;
- Newby, Paul R;
- Carr-Smith, Jacqueline D;
- Disanto, Giulio;
- Allahabadia, Amit;
- Armitage, Mary;
- Brix, Thomas H;
- Chatterjee, Krishna;
- Connell, John M;
- Hegedüs, Laszlo;
- Hunt, Penny J;
- Lazarus, John H;
- Pearce, Simon H;
- Robinson, Bruce G;
- Taylor, Jenny C;
- Vaidya, Bijay;
- Wass, John A H;
- Wiersinga, Wilmar M;
- Weetman, Anthony P;
- Ramagopalan, Sreeram V
Publication type:
journal article
A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data.
Published in:
Bioinformatics, 2021, v. 37, n. 2, p. 147, doi. 10.1093/bioinformatics/btaa672
By:
- Vavoulis, Dimitrios V;
- Cutts, Anthony;
- Taylor, Jenny C;
- Schuh, Anna
Publication type:
Article
Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
Published in:
Journal of the Endocrine Society, 2022, v. 6, n. 7, p. 1, doi. 10.1210/jendso/bvac079
By:
- Stevenson, Mark;
- Pagnamenta, Alistair T;
- Mack, Heather G;
- Savige, Judith;
- Giacopuzzi, Edoardo;
- Lines, Kate E;
- Taylor, Jenny C;
- Thakker, Rajesh V
Publication type:
Article
Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0030-7
By:
- Cutts, Anthony;
- Venn, Oliver;
- Dilthey, Alexander;
- Gupta, Avinash;
- Vavoulis, Dimitris;
- Dreau, Helene;
- Middleton, Mark;
- McVean, Gil;
- Taylor, Jenny C.;
- Schuh, Anna
Publication type:
Article
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.
Published in:
Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01150
By:
- Shields, Adrian M.;
- Pagnamenta, Alistair T.;
- Pollard, Andrew J.;
- Taylor, Jenny C.;
- Allroggen, Holger;
- Patel, Smita Y.;
- Knight, Samantha J. L.;
- Popitsch, Niko;
- Camps, Carme;
- Pentony, Melissa M.;
- Kvikstad, Erika M.;
- Lange, Lukas;
- Hashim, Mona;
- Harris, Steve;
- Tilley, Mark;
- Vavoulis, Dimitris;
- Kaisaki, Pamela;
- Ragoussis, Vassilis;
- Feral, Matteo;
- Schuh, Anna H.
Publication type:
Article
Sequencing of human genomes with nanopore technology.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09637-5
By:
- Bowden, Rory;
- Davies, Robert W.;
- Heger, Andreas;
- Pagnamenta, Alistair T.;
- de Cesare, Mariateresa;
- Oikkonen, Laura E.;
- Parkes, Duncan;
- Freeman, Colin;
- Dhalla, Fatima;
- Patel, Smita Y.;
- Popitsch, Niko;
- Ip, Camilla L. C.;
- Roberts, Hannah E.;
- Salatino, Silvia;
- Lockstone, Helen;
- Lunter, Gerton;
- Taylor, Jenny C.;
- Buck, David;
- Simpson, Michael A.;
- Donnelly, Peter
Publication type:
Article
An Evaluation of the Diagnostic Accuracy of a Panel of Variants in DPYD and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities.
Published in:
Cancers, 2021, v. 13, n. 7, p. 1497, doi. 10.3390/cancers13071497
By:
- Palles, Claire;
- Fotheringham, Susan;
- Chegwidden, Laura;
- Lucas, Marie;
- Kerr, Rachel;
- Mozolowski, Guy;
- Rosmarin, Dan;
- Taylor, Jenny C.;
- Tomlinson, Ian;
- Kerr, David;
- Peters, Godefridus J.
Publication type:
Article
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Published in:
Cancers, 2019, v. 11, n. 12, p. 1895, doi. 10.3390/cancers11121895
By:
- Winter, Helen;
- Kaisaki, Pamela J.;
- Harvey, Joe;
- Giacopuzzi, Edoardo;
- Ferla, Matteo P.;
- Pentony, Melissa M.;
- Knight, Samantha J.L.;
- Sharma, Ricky A.;
- Taylor, Jenny C.;
- McCullagh, James S.O.
Publication type:
Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1031, doi. 10.1038/ejhg.2013.91
By:
- Shanks, Morag E;
- Downes, Susan M;
- Copley, Richard R;
- Lise, Stefano;
- Broxholme, John;
- Hudspith, Karl A Z;
- Kwasniewska, Alexandra;
- Davies, Wayne I L;
- Hankins, Mark W;
- Packham, Emily R;
- Clouston, Penny;
- Seller, Anneke;
- Wilkie, Andrew O M;
- Taylor, Jenny C;
- Ragoussis, Jiannis;
- Németh, Andrea H
Publication type:
Article
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 4, p. 361, doi. 10.1038/ejhg.2012.166
By:
- Newbury, Dianne F;
- Mari, Francesca;
- Sadighi Akha, Elham;
- MacDermot, Kay D;
- Canitano, Roberto;
- Monaco, Anthony P;
- Taylor, Jenny C;
- Renieri, Alessandra;
- Fisher, Simon E;
- Knight, Samantha J L
Publication type:
Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 3, p. 274, doi. 10.1038/ejhg.2012.172
By:
- Shanks, Morag E;
- Downes, Susan M;
- Copley, Richard R;
- Lise, Stefano;
- Broxholme, John;
- Hudspith, Karl AZ;
- Kwasniewska, Alexandra;
- Davies, Wayne IL;
- Hankins, Mark W;
- Packham, Emily R;
- Clouston, Penny;
- Seller, Anneke;
- Wilkie, Andrew OM;
- Taylor, Jenny C;
- Ragoussis, Jiannis;
- Németh, Andrea H
Publication type:
Article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
By:
- Conti, Valerio;
- Carabalona, Aurelie;
- Pallesi-Pocachard, Emilie;
- Parrini, Elena;
- Leventer, Richard J.;
- Buhler, Emmanuelle;
- McGillivray, George;
- Michel, François J.;
- Striano, Pasquale;
- Mei, Davide;
- Watrin, Françoise;
- Lise, Stefano;
- Pagnamenta, Alistair T.;
- Taylor, Jenny C.;
- Kini, Usha;
- Clayton-Smith, Jill;
- Novara, Francesca;
- Zuffardi, Orsetta;
- Dobyns, William B.;
- Scheffer, Ingrid E.
Publication type:
Article
Activation of an exonic splice-donor site in exon 30 of CDK5 RAP2 in a patient with severe microcephaly and pigmentary abnormalities.
Published in:
Clinical Case Reports, 2016, v. 4, n. 10, p. 952, doi. 10.1002/ccr3.663
By:
- Pagnamenta, Alistair T.;
- Howard, Malcolm F.;
- Knight, Samantha J. L.;
- Keays, David A.;
- Quaghebeur, Gerardine;
- Taylor, Jenny C.;
- Kini, Usha
Publication type:
Article
Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome.
Published in:
Clinical Genetics, 2023, v. 104, n. 3, p. 390, doi. 10.1111/cge.14355
By:
- Hashim, Mona;
- Stewart, Helen;
- Yu, Jing;
- Banos‐Pinero, Benito;
- Pagnamenta, Alistair T.;
- Taylor, Jenny C.
Publication type:
Article
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 127, doi. 10.1111/cge.14071
By:
- Pagnamenta, Alistair T.;
- Jackson, Adam;
- Perveen, Rahat;
- Beaman, Glenda;
- Petts, Gemma;
- Gupta, Asheeta;
- Hyder, Zerin;
- Chung, Brian Hon‐Yin;
- Kan, Anita Sik‐Yau;
- Cheung, Ka Wang;
- Kerstjens‐Frederikse, Wilhelmina S.;
- Abbott, Kristin M.;
- Elpeleg, Orly;
- Taylor, Jenny C.;
- Banka, Siddharth;
- Ta‐Shma, Asaf
Publication type:
Article
Exploring the potential duty of care in clinical genomics under UK law.
Published in:
Medical Law International, 2017, v. 17, n. 3, p. 158, doi. 10.1177/0968533217721966
By:
- Mitchell, Colin;
- Ploem, Corrette;
- Chico, Victoria;
- Ormondroyd, Elizabeth;
- Hall, Alison;
- Wallace, Susan;
- Fay, Michael;
- Goodwin, Deirdre;
- Bell, Jessica;
- Phillips, Simon;
- Taylor, Jenny C.;
- Hennekam, Raoul;
- Kaye, Jane
Publication type:
Article
A high throughput screen for active human transposable elements.
Published in:
BMC Genomics, 2018, v. 19, p. 1, doi. 10.1186/s12864-018-4485-4
By:
- Kvikstad, Erika M.;
- Piazza, Paolo;
- Taylor, Jenny C.;
- Lunter, Gerton
Publication type:
Article
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85354-8
By:
- Roberts, Hannah E.;
- Lopopolo, Maria;
- Pagnamenta, Alistair T.;
- Sharma, Eshita;
- Parkes, Duncan;
- Lonie, Lorne;
- Freeman, Colin;
- Knight, Samantha J. L.;
- Lunter, Gerton;
- Dreau, Helene;
- Lockstone, Helen;
- Taylor, Jenny C.;
- Schuh, Anna;
- Bowden, Rory;
- Buck, David
Publication type:
Article
A point mutation in the ion conduction pore of AMP A receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 20, p. 3869, doi. 10.1093/hmg/ddx270
By:
- Davies, Benjamin;
- Brown, Laurence A.;
- Cais, Ondrej;
- Watson, Jake;
- Clayton, Amber J.;
- Chang, Veronica T.;
- Biggs, Daniel;
- Preece, Christopher;
- Hernandez-Pliego, Polinka;
- Krohn, Jon;
- Bhomra, Amarjit;
- Twigg, Stephen R. F.;
- Rimmer, Andrew;
- Kanapin, Alexander;
- Sen, Arjune;
- Zaiwalla, Zenobia;
- McVean, Gil;
- Foster, Russell;
- Donnelly, Peter;
- Taylor, Jenny C.
Publication type:
Article
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 13, p. 3732, doi. 10.1093/hmg/ddv117
By:
- Pagnamenta, Alistair T.;
- Howard, Malcolm F.;
- Wisniewski, Eva;
- Popitsch, Niko;
- Knight, Samantha J. L.;
- Keays, David A.;
- Quaghebeur, Gerardine;
- Cox, Helen;
- Cox, Phillip;
- Balla, Tamas;
- Taylor, Jenny C.;
- Kini, Usha
Publication type:
Article
Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis.
Published in:
2017
By:
- Buchanan, James;
- Wordsworth, Sarah;
- Clifford, Ruth;
- Robbe, Pauline;
- Taylor, Jenny;
- Schuh, Anna;
- Knight, Samantha;
- Taylor, Jenny C;
- Knight, Samantha J L
Publication type:
journal article
Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.
Published in:
PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162809
By:
- Kaisaki, Pamela J.;
- Cutts, Anthony;
- Popitsch, Niko;
- Camps, Carme;
- Pentony, Melissa M.;
- Wilson, Gareth;
- Page, Suzanne;
- Kaur, Kulvinder;
- Vavoulis, Dimitris;
- Henderson, Shirley;
- Gupta, Avinash;
- Middleton, Mark R.;
- Karydis, Ioannis;
- Talbot, Denis C.;
- Schuh, Anna;
- Taylor, Jenny C.
Publication type:
Article
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.
Published in:
Nucleic Acids Research, 2022, v. 50, n. 5, p. 2522, doi. 10.1093/nar/gkac130
By:
- Giacopuzzi, Edoardo;
- Popitsch, Niko;
- Taylor, Jenny C
Publication type:
Article
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Published in:
2017
By:
- Hamblin, Angela;
- Wordsworth, Sarah;
- Fermont, Jilles M.;
- Page, Suzanne;
- Kaur, Kulvinder;
- Camps, Carme;
- Kaisaki, Pamela;
- Gupta, Avinash;
- Talbot, Denis;
- Middleton, Mark;
- Henderson, Shirley;
- Cutts, Anthony;
- Vavoulis, Dimitrios V.;
- Housby, Nick;
- Tomlinson, Ian;
- Taylor, Jenny C.;
- Schuh, Anna
Publication type:
journal article
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency.
Published in:
Human Mutation, 2023, p. 1, doi. 10.1155/2023/6633248
By:
- Pagnamenta, Alistair T.;
- Yu, Jing;
- Willis, Tracey A.;
- Hashim, Mona;
- Seaby, Eleanor G.;
- Walker, Susan;
- Xian, Jiaqi;
- Cheng, Emily W. Y.;
- Tavares, Ana Lisa Taylor;
- Forzano, Francesca;
- Cox, Helen;
- Dabir, Tabib;
- Brady, Angela F.;
- Ghali, Neeti;
- Atanur, Santosh S.;
- Ennis, Sarah;
- Baralle, Diana;
- Taylor, Jenny C.
Publication type:
Article
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
Published in:
Human Mutation, 2018, v. 39, n. 6, p. 822, doi. 10.1002/humu.23420
By:
- Pagnamenta, Alistair T.;
- Murakami, Yoshiko;
- Anzilotti, Consuelo;
- Titheradge, Hannah;
- Oates, Adam J.;
- Morton, Jenny;
- Kinoshita, Taroh;
- Kini, Usha;
- Taylor, Jenny C.
Publication type:
Article
Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.
Published in:
Journal of Crohn's & Colitis, 2020, v. 14, n. 1, p. 142, doi. 10.1093/ecco-jcc/jjz112
By:
- Bolton, Chrissy;
- Burch, Nicola;
- Morgan, James;
- Harrison, Beth;
- Pandey, Sumeet;
- Pagnamenta, Alistair T;
- investigators, Oxford IBD cohort;
- Taylor, Jenny C;
- Taylor, John M;
- Marsh, Judith C W;
- Potter, Victoria;
- Travis, Simon;
- Uhlig, Holm H
Publication type:
Article
Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression.
Published in:
Journal of Bone & Mineral Research, 2021, v. 36, n. 1, p. 100, doi. 10.1002/jbmr.4156
By:
- Kooblall, Kreepa G;
- Boon, Hannah;
- Cranston, Treena;
- Stevenson, Mark;
- Pagnamenta, Alistair T;
- Rogers, Angela;
- Grozinsky‐Glasberg, Simona;
- Richardson, Tristan;
- Flanagan, Daniel EH;
- Taylor, Jenny C;
- Lines, Kate E;
- Thakker, Rajesh V
Publication type:
Article
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
Published in:
Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1207, doi. 10.1002/jbmr.2797
By:
- Piret, Sian E;
- Gorvin, Caroline M;
- Pagnamenta, Alistair T;
- Howles, Sarah A;
- Cranston, Treena;
- Rust, Nigel;
- Nesbit, M Andrew;
- Glaser, Ben;
- Taylor, Jenny C;
- Buchs, Andreas E;
- Hannan, Fadil M;
- Thakker, Rajesh V
Publication type:
Article
MichelaNglo: sculpting protein views on web pages without coding.
Published in:
Bioinformatics, 2020, v. 36, n. 10, p. 3268, doi. 10.1093/bioinformatics/btaa104
By:
- Ferla, Matteo P;
- Pagnamenta, Alistair T;
- Damerell, David;
- Taylor, Jenny C;
- Marsden, Brian D
Publication type:
Article
Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data.
Published in:
Bioinformatics, 2017, v. 33, n. 19, p. 3058, doi. 10.1093/bioinformatics/btx355
By:
- Vavoulis, Dimitrios V.;
- Taylor, Jenny C.;
- Schuh, Anna
Publication type:
Article
ReliableGenome: annotation of genomic regions with high/low variant calling concordance.
Published in:
Bioinformatics, 2017, v. 33, n. 2, p. 155, doi. 10.1093/bioinformatics/btw587
By:
- Popitsch, Niko;
- Schuh, Anna;
- Taylor, Jenny C.
Publication type:
Article
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
By:
- Taylor, John;
- Craft, Jude;
- Blair, Edward;
- Wordsworth, Sarah;
- Beeson, David;
- Chandratre, Saleel;
- Cossins, Judith;
- Lester, Tracy;
- Németh, Andrea H.;
- Ormondroyd, Elizabeth;
- Patel, Smita Y.;
- Pagnamenta, Alistair T.;
- Taylor, Jenny C.;
- Thomson, Kate L.;
- Watkins, Hugh;
- Wilkie, Andrew O. M.;
- Knight, Julian C.
Publication type:
Article

Found: 41