Búsqueda | BVS CLAP/SMR-OPS/OMS

1.

The genomic landscape of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21.

Gao, Qingsong; Ryan, Sarra L; Iacobucci, Ilaria; Ghate, Pankaj S; Cranston, Ruth E; Schwab, Claire; Elsayed, Abdelrahman H; Shi, Lei; Pounds, Stanley; Lei, Shaohua; Baviskar, Pradyuamna; Pei, Deqing; Cheng, Cheng; Bashton, Matthew; Sinclair, Paul; Bentley, David R; Ross, Mark T; Kingsbury, Zoya; James, Terena; Roberts, Kathryn G; Devidas, Meenakshi; Fan, Yiping; Chen, Wenan; Chang, Ti-Cheng; Wu, Gang; Carroll, Andrew; Heerema, Nyla; Valentine, Virginia; Valentine, Marcus; Yang, Wenjian; Yang, Jun J; Moorman, Anthony V; Harrison, Christine J; Mullighan, Charles G.

Blood ; 142(8): 711-723, 2023 08 24.

Artículo en Inglés | MEDLINE | ID: mdl-37216686

2.

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.

Chen, Xiao; Shen, Fei; Gonzaludo, Nina; Malhotra, Alka; Rogert, Cande; Taft, Ryan J; Bentley, David R; Eberle, Michael A.

Pharmacogenomics J ; 21(2): 251-261, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33462347

3.

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.

Eberle, Michael A; Fritzilas, Epameinondas; Krusche, Peter; Källberg, Morten; Moore, Benjamin L; Bekritsky, Mitchell A; Iqbal, Zamin; Chuang, Han-Yu; Humphray, Sean J; Halpern, Aaron L; Kruglyak, Semyon; Margulies, Elliott H; McVean, Gil; Bentley, David R.

Genome Res ; 27(1): 157-164, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-27903644

4.

Detection of long repeat expansions from PCR-free whole-genome sequence data.

Dolzhenko, Egor; van Vugt, Joke J F A; Shaw, Richard J; Bekritsky, Mitchell A; van Blitterswijk, Marka; Narzisi, Giuseppe; Ajay, Subramanian S; Rajan, Vani; Lajoie, Bryan R; Johnson, Nathan H; Kingsbury, Zoya; Humphray, Sean J; Schellevis, Raymond D; Brands, William J; Baker, Matt; Rademakers, Rosa; Kooyman, Maarten; Tazelaar, Gijs H P; van Es, Michael A; McLaughlin, Russell; Sproviero, William; Shatunov, Aleksey; Jones, Ashley; Al Khleifat, Ahmad; Pittman, Alan; Morgan, Sarah; Hardiman, Orla; Al-Chalabi, Ammar; Shaw, Chris; Smith, Bradley; Neo, Edmund J; Morrison, Karen; Shaw, Pamela J; Reeves, Catherine; Winterkorn, Lara; Wexler, Nancy S; Housman, David E; Ng, Christopher W; Li, Alina L; Taft, Ryan J; van den Berg, Leonard H; Bentley, David R; Veldink, Jan H; Eberle, Michael A.

Genome Res ; 27(11): 1895-1903, 2017 11.

Artículo en Inglés | MEDLINE | ID: mdl-28887402

5.

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.

Dolzhenko, Egor; Deshpande, Viraj; Schlesinger, Felix; Krusche, Peter; Petrovski, Roman; Chen, Sai; Emig-Agius, Dorothea; Gross, Andrew; Narzisi, Giuseppe; Bowman, Brett; Scheffler, Konrad; van Vugt, Joke J F A; French, Courtney; Sanchis-Juan, Alba; Ibáñez, Kristina; Tucci, Arianna; Lajoie, Bryan R; Veldink, Jan H; Raymond, F Lucy; Taft, Ryan J; Bentley, David R; Eberle, Michael A.

Bioinformatics ; 35(22): 4754-4756, 2019 11 01.

Artículo en Inglés | MEDLINE | ID: mdl-31134279

6.

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.

Chen, Xiao; Sanchis-Juan, Alba; French, Courtney E; Connell, Andrew J; Delon, Isabelle; Kingsbury, Zoya; Chawla, Aditi; Halpern, Aaron L; Taft, Ryan J; Bentley, David R; Butchbach, Matthew E R; Raymond, F Lucy; Eberle, Michael A.

Genet Med ; 22(5): 945-953, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32066871

7.

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.

Gross, Andrew M; Ajay, Subramanian S; Rajan, Vani; Brown, Carolyn; Bluske, Krista; Burns, Nicole J; Chawla, Aditi; Coffey, Alison J; Malhotra, Alka; Scocchia, Alicia; Thorpe, Erin; Dzidic, Natasa; Hovanes, Karine; Sahoo, Trilochan; Dolzhenko, Egor; Lajoie, Bryan; Khouzam, Amirah; Chowdhury, Shimul; Belmont, John; Roller, Eric; Ivakhno, Sergii; Tanner, Stephen; McEachern, Julia; Hambuch, Tina; Eberle, Michael; Hagelstrom, R Tanner; Bentley, David R; Perry, Denise L; Taft, Ryan J.

Genet Med ; 21(5): 1121-1130, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-30293986

8.

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

Robbe, Pauline; Popitsch, Niko; Knight, Samantha J L; Antoniou, Pavlos; Becq, Jennifer; He, Miao; Kanapin, Alexander; Samsonova, Anastasia; Vavoulis, Dimitrios V; Ross, Mark T; Kingsbury, Zoya; Cabes, Maite; Ramos, Sara D C; Page, Suzanne; Dreau, Helene; Ridout, Kate; Jones, Louise J; Tuff-Lacey, Alice; Henderson, Shirley; Mason, Joanne; Buffa, Francesca M; Verrill, Clare; Maldonado-Perez, David; Roxanis, Ioannis; Collantes, Elena; Browning, Lisa; Dhar, Sunanda; Damato, Stephen; Davies, Susan; Caulfield, Mark; Bentley, David R; Taylor, Jenny C; Turnbull, Clare; Schuh, Anna.

Genet Med ; 20(10): 1196-1205, 2018 10.

Artículo en Inglés | MEDLINE | ID: mdl-29388947

9.

Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.

Chen, Xiao; Shen, Fei; Gonzaludo, Nina; Malhotra, Alka; Rogert, Cande; Taft, Ryan J; Bentley, David R; Eberle, Michael A.

Pharmacogenomics J ; 22(5-6): 308, 2022 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-36171418

10.

A comprehensive catalogue of somatic mutations from a human cancer genome.

Pleasance, Erin D; Cheetham, R Keira; Stephens, Philip J; McBride, David J; Humphray, Sean J; Greenman, Chris D; Varela, Ignacio; Lin, Meng-Lay; Ordóñez, Gonzalo R; Bignell, Graham R; Ye, Kai; Alipaz, Julie; Bauer, Markus J; Beare, David; Butler, Adam; Carter, Richard J; Chen, Lina; Cox, Anthony J; Edkins, Sarah; Kokko-Gonzales, Paula I; Gormley, Niall A; Grocock, Russell J; Haudenschild, Christian D; Hims, Matthew M; James, Terena; Jia, Mingming; Kingsbury, Zoya; Leroy, Catherine; Marshall, John; Menzies, Andrew; Mudie, Laura J; Ning, Zemin; Royce, Tom; Schulz-Trieglaff, Ole B; Spiridou, Anastassia; Stebbings, Lucy A; Szajkowski, Lukasz; Teague, Jon; Williamson, David; Chin, Lynda; Ross, Mark T; Campbell, Peter J; Bentley, David R; Futreal, P Andrew; Stratton, Michael R.

Nature ; 463(7278): 191-6, 2010 Jan 14.

Artículo en Inglés | MEDLINE | ID: mdl-20016485

11.

Accurate whole human genome sequencing using reversible terminator chemistry.

Bentley, David R; Balasubramanian, Shankar; Swerdlow, Harold P; Smith, Geoffrey P; Milton, John; Brown, Clive G; Hall, Kevin P; Evers, Dirk J; Barnes, Colin L; Bignell, Helen R; Boutell, Jonathan M; Bryant, Jason; Carter, Richard J; Keira Cheetham, R; Cox, Anthony J; Ellis, Darren J; Flatbush, Michael R; Gormley, Niall A; Humphray, Sean J; Irving, Leslie J; Karbelashvili, Mirian S; Kirk, Scott M; Li, Heng; Liu, Xiaohai; Maisinger, Klaus S; Murray, Lisa J; Obradovic, Bojan; Ost, Tobias; Parkinson, Michael L; Pratt, Mark R; Rasolonjatovo, Isabelle M J; Reed, Mark T; Rigatti, Roberto; Rodighiero, Chiara; Ross, Mark T; Sabot, Andrea; Sankar, Subramanian V; Scally, Aylwyn; Schroth, Gary P; Smith, Mark E; Smith, Vincent P; Spiridou, Anastassia; Torrance, Peta E; Tzonev, Svilen S; Vermaas, Eric H; Walter, Klaudia; Wu, Xiaolin; Zhang, Lu; Alam, Mohammed D; Anastasi, Carole.

Nature ; 456(7218): 53-9, 2008 Nov 06.

Artículo en Inglés | MEDLINE | ID: mdl-18987734

12.

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

Babbs, Christian; Roberts, Nigel A; Sanchez-Pulido, Luis; McGowan, Simon J; Ahmed, Momin R; Brown, Jill M; Sabry, Mohamed A; Bentley, David R; McVean, Gil A; Donnelly, Peter; Gileadi, Opher; Ponting, Chris P; Higgs, Douglas R; Buckle, Veronica J.

Haematologica ; 98(9): 1383-7, 2013 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23716552

13.

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.

Clause, Amanda R; Taylor, Julie P; Rajkumar, Revathi; Bluske, Krista; Bennett, Maren; Amendola, Laura M; Bentley, David R; Taft, Ryan J; Perry, Denise L; Coffey, Alison J.

Cell Genom ; 3(2): 100258, 2023 Feb 08.

Artículo en Inglés | MEDLINE | ID: mdl-36819666

14.

Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia.

Ryan, Sarra L; Peden, John F; Kingsbury, Zoya; Schwab, Claire J; James, Terena; Polonen, Petri; Mijuskovic, Martina; Becq, Jenn; Yim, Richard; Cranston, Ruth E; Hedges, Dale J; Roberts, Kathryn G; Mullighan, Charles G; Vora, Ajay; Russell, Lisa J; Bain, Robert; Moorman, Anthony V; Bentley, David R; Harrison, Christine J; Ross, Mark T.

Leukemia ; 37(3): 518-528, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36658389

15.

Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.

Schwab, Claire; Cranston, Ruth E; Ryan, Sarra L; Butler, Ellie; Winterman, Emily; Hawking, Zoe; Bashton, Matthew; Enshaei, Amir; Russell, Lisa J; Kingsbury, Zoya; Peden, John F; Barretta, Emilio; Murray, James; Gibson, Jude; Hinchliffe, Andrew C; Bain, Robert; Vora, Ajay; Bentley, David R; Ross, Mark T; Moorman, Anthony V; Harrison, Christine J.

Leukemia ; 37(3): 529-538, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36550215

16.

Whole-genome re-sequencing.

Bentley, David R.

Curr Opin Genet Dev ; 16(6): 545-52, 2006 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-17055251

17.

The sequences of the human sex chromosomes.

Ross, Mark T; Bentley, David R; Tyler-Smith, Chris.

Curr Opin Genet Dev ; 16(3): 213-8, 2006 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-16650760

18.

Genomes for medicine.

Bentley, David R.

Nature ; 429(6990): 440-5, 2004 May 27.

Artículo en Inglés | MEDLINE | ID: mdl-15164068

19.

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.

Dolzhenko, Egor; Bennett, Mark F; Richmond, Phillip A; Trost, Brett; Chen, Sai; van Vugt, Joke J F A; Nguyen, Charlotte; Narzisi, Giuseppe; Gainullin, Vladimir G; Gross, Andrew M; Lajoie, Bryan R; Taft, Ryan J; Wasserman, Wyeth W; Scherer, Stephen W; Veldink, Jan H; Bentley, David R; Yuen, Ryan K C; Bahlo, Melanie; Eberle, Michael A.

Genome Biol ; 21(1): 102, 2020 04 28.

Artículo en Inglés | MEDLINE | ID: mdl-32345345

20.

The gene involved in X-linked agammaglobulinaemia is a member of the Src family of protein-tyrosine kinases. 1993.

Vetrie, David; Vorechovský, Igor; Sideras, Paschalis; Holland, Jill; Davies, Angela; Flinter, Frances; Hammarström, Lennart; Kinnon, Christine; Levinsky, Roland; Bobrow, Martin; Smith, C I Edvard; Bentley, David R.

J Immunol ; 188(7): 2948-55, 2012 Apr 01.

Artículo en Inglés | MEDLINE | ID: mdl-22442492

BVS CLAP/SMR-OPS/OMS

Centro Latinoamericano de Perinatología, Salud de la Mujer y Reproductiva

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