Genome Mapping by Fluorescent Fingerprinting

door Gregory, Simon G., Howell, Gareth R., Bentley, David R.
Gepubliceerd in 1997

Long-Range Comparison of Human and Mouse SCL Loci: Localized Regions of Sensitivity to Restriction Endonucleases Correspond Precisely with Peaks of Conserved Noncoding Sequences

door Göttgens, Berthold, Gilbert, James G.R., Barton, Linda M., Grafham, Darren, Rogers, Jane, Bentley, David R., Green, Anthony R.
Gepubliceerd in 2001

Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps

door Zhang, Weihua, Collins, Andrew, Gibson, Jane, Tapper, William J., Hunt, Sarah, Deloukas, Panos, Bentley, David R., Morton, Newton E.
Gepubliceerd in 2004

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

door Chen, Xiao, Shen, Fei, Gonzaludo, Nina, Malhotra, Alka, Rogert, Cande, Taft, Ryan J., Bentley, David R., Eberle, Michael A.
Gepubliceerd in Pharmacogenomics J (2021)

Transcriptional Regulation of the Stem Cell Leukemia Gene (SCL) — Comparative Analysis of Five Vertebrate SCL Loci

door Göttgens, Berthold, Barton, Linda M., Chapman, Michael A., Sinclair, Angus M., Knudsen, Bjarne, Grafham, Darren, Gilbert, James G.R., Rogers, Jane, Bentley, David R., Green, Anthony R.
Gepubliceerd in 2002

Paragraph: a graph-based structural variant genotyper for short-read sequence data

door Chen, Sai, Krusche, Peter, Dolzhenko, Egor, Sherman, Rachel M., Petrovski, Roman, Schlesinger, Felix, Kirsche, Melanie, Bentley, David R., Schatz, Michael C., Sedlazeck, Fritz J., Eberle, Michael A.
Gepubliceerd in Genome Biol (2019)

A High-Resolution Linkage-Disequilibrium Map of the Human Major Histocompatibility Complex and First Generation of Tag Single-Nucleotide Polymorphisms

door Miretti, Marcos M., Walsh, Emily C., Ke, Xiayi, Delgado, Marcos, Griffiths, Mark, Hunt, Sarah, Morrison, Jonathan, Whittaker, Pamela, Lander, Eric S., Cardon, Lon R., Bentley, David R., Rioux, John D., Beck, Stephan, Deloukas, Panos
Gepubliceerd in 2005

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

door 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.
Gepubliceerd in Genet Med (2020)

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

door 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.
Gepubliceerd in Genome Res (2017)

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

door 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.
Gepubliceerd in 2013

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

door Ceroni, Fabiola, Simpson, Nuala H, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, Clark, Ann, Bolton, Patrick F, Hennessy, Elizabeth R, Donnelly, Peter, Bentley, David R, Martin, Hilary, Parr, Jeremy, Pagnamenta, Alistair T, Maestrini, Elena, Bacchelli, Elena, Fisher, Simon E, Newbury, Dianne F
Gepubliceerd in 2014

Reply to Pembrey et al: ‘ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'

door Ceroni, Fabiola, Simpson, Nuala H, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, Clark, Ann, Bolton, Patrick F, Hennessy, Elizabeth R, Donnelly, Peter, Bentley, David R, Martin, Hilary, Parr, Jeremy, Pagnamenta, Alistair T, Maestrini, Elena, Bacchelli, Elena, Fisher, Simon E, Newbury, Dianne F
Gepubliceerd in Eur J Hum Genet (2015)

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

door Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.
Gepubliceerd in NPJ Genom Med (2019)

High-Resolution Landmark Framework for the Sequence-Ready Mapping of Xq23–q26.1

door Steingruber, Helen E., Dunham, Andrew, Coffey, Alison J., Clegg, Sheila M., Howell, Gareth R., Maslen, Gareth L., Scott, Carol E., Gwilliam, Rhian, Hunt, Paul J., Sotheran, Elizabeth C., Huckle, Elizabeth J., Hunt, Sarah E., Dhami, Pawandeep, Soderlund, Cari, Leversha, Margaret A., Bentley, David R., Ross, Mark T.
Gepubliceerd in 1999

A Validated Tumorgraft Model Reveals Activity of Dovitinib Against Renal Cell Carcinoma

door Sivanand, Sharanya, Peña-Llopis, Samuel, Zhao, Hong, Kucejova, Blanka, Spence, Patrick, Pavia-Jimenez, Andrea, Yamasaki, Toshinari, McBride, David J., Gillen, Jessica, Wolff, Nicholas C., Morlock, Lorraine, Lotan, Yair, Raj, Ganesh V., Sagalowsky, Arthur, Margulis, Vitaly, Cadeddu, Jeffrey A., Ross, Mark T., Bentley, David R., Kabbani, Wareef, Xie, Xian-Jin, Kapur, Payal, Williams, Noelle S., Brugarolas, James
Gepubliceerd in 2012

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

door 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.
Gepubliceerd in Genome Biol (2020)

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

door 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
Gepubliceerd in Bioinformatics (2019)

BAP1 loss defines a new class of renal cell carcinoma

door Peña-Llopis, Samuel, Vega-Rubín-de-Celis, Silvia, Liao, Arnold, Leng, Nan, Pavía-Jiménez, Andrea, Wang, Shanshan, Yamasaki, Toshinari, Zhrebker, Leah, Sivanand, Sharanya, Spence, Patrick, Kinch, Lisa, Hambuch, Tina, Jain, Suneer, Lotan, Yair, Margulis, Vitaly, Sagalowsky, Arthur I., Summerour, Pia Banerji, Kabbani, Wareef, Wong, S. W. Wendy, Grishin, Nick, Laurent, Marc, Xie, Xian-Jin, Haudenschild, Christian D., Ross, Mark T., Bentley, David R., Kapur, Payal, Brugarolas, James
Gepubliceerd in 2012

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

door 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.
Gepubliceerd in Genet Med (2018)

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

door 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
Gepubliceerd in Genet Med (2018)