Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

por Grozeva, Detelina, Conrad, Donald F., Barnes, Chris P., Hurles, Matthew, Owen, Michael J., O'Donovan, Michael C., Craddock, Nick, Kirov, George
Publicado 2012

Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity

por Ferreira, Zélia, Hurle, Belen, Andrés, Aida M., Kretzschmar, Warren W., Mullikin, James C., Cherukuri, Praveen F., Cruz, Pedro, Gonder, Mary Katherine, Stone, Anne C., Tishkoff, Sarah, Swanson, Willie J., Green, Eric D., Clark, Andrew G., Seixas, Susana
Publicado 2013

The Rate of Nonallelic Homologous Recombination in Males Is Highly Variable, Correlated between Monozygotic Twins and Independent of Age

por MacArthur, Jacqueline A. L., Spector, Timothy D., Lindsay, Sarah J., Mangino, Massimo, Gill, Raj, Small, Kerrin S., Hurles, Matthew E.
Publicado 2014

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

por Bragin, Eugene, Chatzimichali, Eleni A., Wright, Caroline F., Hurles, Matthew E., Firth, Helen V., Bevan, A. Paul, Swaminathan, G. Jawahar
Publicado 2014

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

por Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P
Publicado 2014

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

por Carss, Keren J., Hillman, Sarah C., Parthiban, Vijaya, McMullan, Dominic J., Maher, Eamonn R., Kilby, Mark D., Hurles, Matthew E.
Publicado 2014

Cis and Trans Effects of Human Genomic Variants on Gene Expression

por Bryois, Julien, Buil, Alfonso, Evans, David M., Kemp, John P., Montgomery, Stephen B., Conrad, Donald F., Ho, Karen M., Ring, Susan, Hurles, Matthew, Deloukas, Panos, Davey Smith, George, Dermitzakis, Emmanouil T.
Publicado 2014

Copy number variation in the human Y chromosome in the UK population

por Wei, Wei, Fitzgerald, Tomas, Ayub, Qasim, Massaia, Andrea, Smith, Blair B., Dominiczak, Anna A., Morris, Andrew A., Porteous, David D., Hurles, Matthew E., Tyler-Smith, Chris, Xue, Yali
Publicado 2015

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

por Grozeva, Detelina, Carss, Keren, Spasic‐Boskovic, Olivera, Tejada, Maria‐Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy
Publicado 2015

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

por Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.
Publicado 2016

DNA damage precedes apoptosis during the regression of the interdigital tissue in vertebrate embryos

por Montero, Juan A., Sanchez-Fernandez, Cristina, Lorda-Diez, Carlos I., Garcia-Porrero, Juan A., Hurle, Juan M.
Publicado 2016

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

por Boycott, Kym M., Rath, Ana, Chong, Jessica X., Hartley, Taila, Alkuraya, Fowzan S., Baynam, Gareth, Brookes, Anthony J., Brudno, Michael, Carracedo, Angel, den Dunnen, Johan T., Dyke, Stephanie O.M., Estivill, Xavier, Goldblatt, Jack, Gonthier, Catherine, Groft, Stephen C., Gut, Ivo, Hamosh, Ada, Hieter, Philip, Höhn, Sophie, Hurles, Matthew E., Kaufmann, Petra, Knoppers, Bartha M., Krischer, Jeffrey P., Macek, Milan, Matthijs, Gert, Olry, Annie, Parker, Samantha, Paschall, Justin, Philippakis, Anthony A., Rehm, Heidi L., Robinson, Peter N., Sham, Pak-Chung, Stefanov, Rumen, Taruscio, Domenica, Unni, Divya, Vanstone, Megan R., Zhang, Feng, Brunner, Han, Bamshad, Michael J., Lochmüller, Hanns
Publicado 2017

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

por Narasimhan, Vagheesh M., Rahbari, Raheleh, Scally, Aylwyn, Wuster, Arthur, Mason, Dan, Xue, Yali, Wright, John, Trembath, Richard C., Maher, Eamonn R., van Heel, David A., Auton, Adam, Hurles, Matthew E., Tyler-Smith, Chris, Durbin, Richard
Publicado 2017

Experimental modelling of cardiac pressure overload hypertrophy: Modified technique for precise, reproducible, safe and easy aortic arch banding-debanding in mice

por Merino, David, Gil, Aritz, Gómez, Jenny, Ruiz, Luis, Llano, Miguel, García, Raquel, Hurlé, María A., Nistal, J. Francisco
Publicado 2018

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1133 families with developmental disorders

por Wright, Caroline F., McRae, Jeremy F., Clayton, Stephen, Gallone, Giuseppe, Aitken, Stuart, FitzGerald, Tomas W., Jones, Philip, Prigmore, Elena, Rajan, Diana, Lord, Jenny, Sifrim, Alejandro, Kelsell, Rosemary, Parker, Michael J., Barrett, Jeffrey C., Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.
Publicado 2018

Systematic interrogation of diverse Omic data reveals interpretable, robust, and generalizable transcriptomic features of clinically successful therapeutic targets

por Rouillard, Andrew D., Hurle, Mark R., Agarwal, Pankaj
Publicado 2018

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

por Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F., Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W., Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S., Goodship, Judith, Hobson, Emma, Jones, Wendy D., Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J., Turnpenny, Peter, Whitworth, James, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Lo, Cecilia W., FitzPatrick, David R., Hurles, Matthew E.
Publicado 2015

Exome Sequencing Identifies Rare Variants in Multiple Genes in Atrioventricular Septal Defect

por D’Alessandro, Lisa C.A., Al Turki, Saeed, Manickaraj, Ashok Kumar, Manase, Dorin, Mulder, Barbara J.M., Bergin, Lynn, Rosenberg, Herschel C., Mondal, Tapas, Gordon, Elaine, Lougheed, Jane, Smythe, John, Devriendt, Koen, Bhattacharya, Shoumo, Watkins, Hugh, Bentham, Jamie, Bowdin, Sarah, Hurles, Matthew E., Mital, Seema
Publicado 2015

Pathogenicity and selective constraint on variation near splice sites

por Lord, Jenny, Gallone, Giuseppe, Short, Patrick J., McRae, Jeremy F., Ironfield, Holly, Wynn, Elizabeth H., Gerety, Sebastian S., He, Liu, Kerr, Bronwyn, Johnson, Diana S., McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I. Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P.M., Lam, Wayne, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Barrett, Jeffrey C., Hurles, Matthew E.
Publicado 2019

Paternal exposure to benzo(a)pyrene induces genome-wide mutations in mouse offspring

por Beal, Marc A., Meier, Matthew J., Williams, Andrew, Rowan-Carroll, Andrea, Gagné, Rémi, Lindsay, Sarah J., Fitzgerald, Tomas, Hurles, Matthew E., Marchetti, Francesco, Yauk, Carole L.
Publicado 2019