Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation

by Wells, Dagan, Kaur, Kulvinder, Grifo, Jamie, Glassner, Michael, Taylor, Jenny C, Fragouli, Elpida, Munne, Santiago
Published 2014

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

by Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha
Published 2016

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

by Piret, Sian E., Gorvin, Caroline M., Trinh, Anne, Taylor, John, Lise, Stefano, Taylor, Jenny C., Ebeling, Peter R., Thakker, Rajesh V.
Published 2016

A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss

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 JL
Published 2012

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

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
Published 2013

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis

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.
Published 2016

Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

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
Published 2016

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE

by Kienzler, Anne-Kathrin, van Schouwenburg, Pauline A., Taylor, John, Marwah, Ishita, Sharma, Richa U., Noakes, Charlotte, Thomson, Kate, Sadler, Ross, Segal, Shelley, Ferry, Berne, Taylor, Jenny C., Blair, Edward, Chapel, Helen, Patel, Smita Y.
Published 2016

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

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
Published 2015

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 Lef...

by Hastings, Robert, de Villiers, Carin P., Hooper, Charlotte, Ormondroyd, Liz, Pagnamenta, Alistair, Lise, Stefano, Salatino, Silvia, Knight, Samantha J.L., Taylor, Jenny C., Thomson, Kate L., Arnold, Linda, Chatziefthimiou, Spyros D., Konarev, Petr V., Wilmanns, Matthias, Ehler, Elisabeth, Ghisleni, Andrea, Gautel, Mathias, Blair, Edward, Watkins, Hugh, Gehmlich, Katja
Published 2016

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation

by Haas, Matilda A., Ngo, Linh, Li, Shan Shan, Schleich, Sibylle, Qu, Zhengdong, Vanyai, Hannah K., Cullen, Hayley D., Cardona-Alberich, Aida, Gladwyn-Ng, Ivan E., Pagnamenta, Alistair T., Taylor, Jenny C., Stewart, Helen, Kini, Usha, Duncan, Kent E., Teleman, Aurelio A., Keays, David A., Heng, Julian I.-T.
Published 2016

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

by Walsh, Roddy, Thomson, Kate L., Ware, James S., Funke, Birgit H., Woodley, Jessica, McGuire, Karen J., Mazzarotto, Francesco, Blair, Edward, Seller, Anneke, Taylor, Jenny C., Minikel, Eric V., Exome Aggregation Consortium, MacArthur, Daniel G., Farrall, Martin, Cook, Stuart A., Watkins, Hugh
Published 2017

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

by Ilkovski, Biljana, Pagnamenta, Alistair T., O'Grady, Gina L., Kinoshita, Taroh, Howard, Malcolm F., Lek, Monkol, Thomas, Brett, Turner, Anne, Christodoulou, John, Sillence, David, Knight, Samantha J.L., Popitsch, Niko, Keays, David A., Anzilotti, Consuelo, Goriely, Anne, Waddell, Leigh B., Brilot, Fabienne, North, Kathryn N., Kanzawa, Noriyuki, Macarthur, Daniel G., Taylor, Jenny C., Kini, Usha, Murakami, Yoshiko, Clarke, Nigel F.
Published 2015

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

by Hempel, Annmarie, Pagnamenta, Alistair T, Blyth, Moira, Mansour, Sahar, McConnell, Vivienne, Kou, Ikuyo, Ikegawa, Shiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Lo-Castro, Adriana, Plessis, Ghislaine, Albrecht, Beate, Battaglia, Agatino, Taylor, Jenny C, Howard, Malcolm F, Keays, David, Sohal, Aman Singh, Kühl, Susanne J, Kini, Usha, McNeill, Alisdair
Published 2016

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

by Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Sadighi Akha, Elham, Parolin Schnekenberg, Ricardo, Suminaite, Daumante, Hope, Jilly, Baker, Ian, Gregory, Lorna, Green, Angie, Allan, Chris, Lamble, Sarah, Jayawant, Sandeep, Quaghebeur, Gerardine, Cader, M. Zameel, Hughes, Sarah, Armstrong, Richard J. E., Kanapin, Alexander, Rimmer, Andrew, Lunter, Gerton, Mathieson, Iain, Cazier, Jean-Baptiste, Buck, David, Taylor, Jenny C., Bentley, David, McVean, Gilean, Donnelly, Peter, Knight, Samantha J. L., Jackson, Mandy, Ragoussis, Jiannis, Németh, Andrea H.
Published 2012

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

by Martin, Hilary C., Kim, Grace E., Pagnamenta, Alistair T., Murakami, Yoshiko, Carvill, Gemma L., Meyer, Esther, Copley, Richard R., Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R., Kronengold, Jack, Brown, Maile R., Hudspith, Karl A., Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C., Shears, Deborah, Stewart, Helen, Kurian, Manju A., Scheffer, Ingrid E., Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K., Taylor, Jenny C.
Published 2014

Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia

by Broix, Loïc, Jagline, Hélène, Ivanova, Ekaterina, Schmucker, Stéphane, Drouot, Nathalie, Clayton-Smith, Jill, Pagnamenta, Alistair T., Metcalfe, Kay.A., Isidor, Bertrand, Louvier, Ulrike Walther, Poduri, Annapurna, Taylor, Jenny C., Tilly, Peggy, Poirier, Karine, Saillour, Yoann, Lebrun, Nicolas, Stemmelen, Tristan, Rudolf, Gabrielle, Muraca, Giuseppe, Saintpierre, Benjamin, Elmorjani, Adrienne, Moïse, Martin, Weirauch, Nathalie Bednarek, Guerrini, Renzo, Boland, Anne, Olaso, Robert, Masson, Cecile, Tripathy, Ratna, Keays, David, Beldjord, Cherif, Nguyen, Laurent, Godin, Juliette, Kini, Usha, Nischké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Sumara, Izabela, Hinckelmann, Maria-Victoria, Chelly, Jamel
Published 2016

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

by Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J., Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J. Lloyd, Lesca, Gaetan, Mancardi, Maria M., Poulat, Anne L., Repetto, Gabriela M., Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E., Bosch, Friedrich, Brockmann, Knut, Cross, J. Helen, Doummar, Diane, Félix, Temis M., Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M., Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T., Peluso, Silvio, Mey, Antje, Rice, Gregory M., Rosenfeld, Jill A., Taylor, Jenny C., Troester, Matthew M., Stanley, Christine M., Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R., Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F., Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B., Oliver, Karen L., Berkovic, Samuel F., Scheffer, Ingrid E., de Falco, Fabrizio A., Oliver, Peter L., Striano, Pasquale, Zara, Federico, Campeau, Phillipe M., Sisodiya, S.M.
Published 2016

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

by Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H., Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen RF, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
Published 2015