Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E, Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R, Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H, Raymond, F Lucy, Carss, Keren J
Published in Genome medicine (07.12.2018)
Published in Genome medicine (07.12.2018)
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Journal Article
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Journal Article
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability
Sanchis-Juan, Alba, Bitsara, Christina, Low, Kay Yi, Carss, Keren J, French, Courtney E, Spasic-Boskovic, Olivera, Jarvis, Joanna, Field, Michael, Raymond, F Lucy, Grozeva, Detelina
Published in Frontiers in genetics (26.06.2019)
Published in Frontiers in genetics (26.06.2019)
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Journal Article
Genomic variation in the vomeronasal receptor gene repertoires of inbred mice
Wynn, Elizabeth H, Sánchez-Andrade, Gabriela, Carss, Keren J, Logan, Darren W
Published in BMC genomics (21.08.2012)
Published in BMC genomics (21.08.2012)
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Journal Article
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
Sanchis‐Juan, Alba, Hasenahuer, Marcia A., Baker, James A., McTague, Amy, Barwick, Katy, Kurian, Manju A., Duarte, Sofia T., Carss, Keren J., Thornton, Janet, Raymond, F. Lucy
Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
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Journal Article
Using human genetics to improve safety assessment of therapeutics
Carss, Keren J., Deaton, Aimee M., Del Rio-Espinola, Alberto, Diogo, Dorothée, Fielden, Mark, Kulkarni, Diptee A., Moggs, Jonathan, Newham, Peter, Nelson, Matthew R., Sistare, Frank D., Ward, Lucas D., Yuan, Jing
Published in Nature reviews. Drug discovery (01.02.2023)
Published in Nature reviews. Drug discovery (01.02.2023)
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Journal Article
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
Carss, Keren J, Hillman, Sarah C, Parthiban, Vijaya, McMullan, Dominic J, Maher, Eamonn R, Kilby, Mark D, Hurles, Matthew E
Published in Human molecular genetics (15.06.2014)
Published in Human molecular genetics (15.06.2014)
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Journal Article
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Ellingford, Jamie M, Horn, Bradley, Campbell, Christopher, Arno, Gavin, Barton, Stephanie, Tate, Catriona, Bhaskar, Sanjeev, Sergouniotis, Panagiotis I, Taylor, Rachel L, Carss, Keren J, Raymond, Lucy F L, Michaelides, Michel, Ramsden, Simon C, Webster, Andrew R, Black, Graeme C M
Published in Journal of medical genetics (01.02.2018)
Published in Journal of medical genetics (01.02.2018)
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Journal Article
Phenotypic insights into ADCY5-associated disease
Chang, Florence C.F., Westenberger, Ana, Dale, Russell C., Smith, Martin, Pall, Hardev S., Perez-Dueñas, Belen, Grattan-Smith, Padraic, Ouvrier, Robert A., Mahant, Neil, Hanna, Bernadette C., Hunter, Matthew, Lawson, John A., Max, Christoph, Sachdev, Rani, Meyer, Esther, Crimmins, Dennis, Pryor, Donald, Morris, John G.L., Münchau, Alex, Grozeva, Detelina, Carss, Keren J., Raymond, Lucy, Kurian, Manju A., Klein, Christine, Fung, Victor S.C.
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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Journal Article
A clinical and molecular characterisation of CRB1-associated maculopathy
Khan, Kamron N, Robson, Anthony, Mahroo, Omar A R, Arno, Gavin, Inglehearn, Chris F, Armengol, Monica, Waseem, Naushin, Holder, Graham E, Carss, Keren J, Raymond, Lucy F, Webster, Andrew R, Moore, Anthony T, McKibbin, Martin, van Genderen, Maria M, Poulter, James A, Michaelides, Michel
Published in European journal of human genetics : EJHG (01.05.2018)
Published in European journal of human genetics : EJHG (01.05.2018)
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Journal Article
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
Sanchis-Juan, Alba, Megy, Karyn, Stephens, Jonathan, Armirola Ricaurte, Camila, Dewhurst, Eleanor, Low, Kayyi, French, Courtney E., Grozeva, Detelina, Stirrups, Kathleen, Erwood, Marie, McTague, Amy, Penkett, Christopher J., Shamardina, Olga, Tuna, Salih, Daugherty, Louise C., Gleadall, Nicholas, Duarte, Sofia T., Hedrera-Fernández, Antonio, Vogt, Julie, Ambegaonkar, Gautam, Chitre, Manali, Josifova, Dragana, Kurian, Manju A., Parker, Alasdair, Rankin, Julia, Reid, Evan, Wakeling, Emma, Wassmer, Evangeline, Woods, C. Geoffrey, Raymond, F. Lucy, Carss, Keren J.
Published in American journal of human genetics (03.08.2023)
Published in American journal of human genetics (03.08.2023)
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Journal Article
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
Silva, Raquel S., Arno, Gavin, Cipriani, Valentina, Pontikos, Nikolas, Defoort‐Dhellemmes, Sabine, Kalhoro, Ambreen, Carss, Keren J., Raymond, F. Lucy, Dhaenens, Claire Marie, Jensen, Hanne, Rosenberg, Thomas, Heyningen, Veronica, Moore, Anthony T., Puech, Bernard, Webster, Andrew R.
Published in Human mutation (01.05.2019)
Published in Human mutation (01.05.2019)
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Journal Article
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome
Danti, Federica Rachele, Galosi, Serena, Romani, Marta, Montomoli, Martino, Carss, Keren J, Raymond, F Lucy, Parrini, Elena, Bianchini, Claudia, McShane, Tony, Dale, Russell C, Mohammad, Shekeeb S, Shah, Ubaid, Mahant, Neil, Ng, Joanne, McTague, Amy, Samanta, Rajib, Vadlamani, Gayatri, Valente, Enza Maria, Leuzzi, Vincenzo, Kurian, Manju A, Guerrini, Renzo
Published in Neurology. Genetics (01.04.2017)
Published in Neurology. Genetics (01.04.2017)
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Journal Article
Assessing the Role of Rare Genetic Variation in Patients With Heart Failure
Povysil, Gundula, Chazara, Olympe, Carss, Keren J, Deevi, Sri V V, Wang, Quanli, Armisen, Javier, Paul, Dirk S, Granger, Christopher B, Kjekshus, John, Aggarwal, Vimla, Haefliger, Carolina, Goldstein, David B
Published in JAMA cardiology (01.04.2021)
Published in JAMA cardiology (01.04.2021)
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Journal Article
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy
Bertrand, Renae Elaine, Wang, Jun, Xiong, Kaitlyn H., Thangavel, Chinthana, Qian, Xinye, Ba-Abbad, Rola, Liang, Qingnan, Simões, Renata T., Sampaio, Shirley A. M., Carss, Keren J., Lucy Raymond, F., Robson, Anthony G., Webster, Andrew R., Arno, Gavin, Porto, Fernanda Belga Ottoni, Chen, Rui
Published in Genetics in medicine (01.03.2021)
Published in Genetics in medicine (01.03.2021)
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Journal Article
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene
Ba-Abbad, Rola, Leys, Monique, Wang, Xinjing, Chakarova, Christina, Waseem, Naushin, Carss, Keren J, Raymond, F Lucy, Bujakowska, Kinga M, Pierce, Eric A, Mahroo, Omar A, Mohamed, Moin D, Holder, Graham E, Hummel, Marybeth, Arno, Gavin, Webster, Andrew R
Published in Investigative ophthalmology & visual science (01.10.2018)
Published in Investigative ophthalmology & visual science (01.10.2018)
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Journal Article
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing
Carss, Keren J, Baranowska, Anna A, Armisen, Javier, Webb, Tom R, Hamby, Stephen E, Premawardhana, Diluka, Al-Hussaini, Abtehale, Wood, Alice, Wang, Quanli, Deevi, Sri V V, Vitsios, Dimitrios, Lewis, Samuel H, Kotecha, Deevia, Bouatia-Naji, Nabila, Hesselson, Stephanie, Iismaa, Siiri E, Tarr, Ingrid, McGrath-Cadell, Lucy, Muller, David W, Dunwoodie, Sally L, Fatkin, Diane, Graham, Robert M, Giannoulatou, Eleni, Samani, Nilesh J, Petrovski, Slavé, Haefliger, Carolina, Adlam, David
Published in Circulation. Genomic and precision medicine (01.12.2020)
Published in Circulation. Genomic and precision medicine (01.12.2020)
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Journal Article
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM
Khan, Kamron N, Lord, Emma C, Arno, Gavin, Islam, Farrah, Carss, Keren J, Raymond, FLucy, Toomes, Carmel, Ali, Manir, Inglehearn, Chris F, Webster, Andrew R, Moore, Anthony T, Poulter, James A, Michaelides, Michel
Published in Retina (Philadelphia, Pa.) (01.03.2018)
Published in Retina (Philadelphia, Pa.) (01.03.2018)
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Journal Article
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration
Borooah, Shyamanga, Stanton, Chloe M, Marsh, Joseph, Carss, Keren J, Waseem, Naushin, Biswas, Pooja, Agorogiannis, Georgios, Raymond, Lucy, Arno, Gavin, Webster, Andrew R
Published in Ophthalmic genetics (02.11.2018)
Published in Ophthalmic genetics (02.11.2018)
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Journal Article