Genomic variation in the vomeronasal receptor gene repertoires of inbred mice

por Wynn, Elizabeth H, Sánchez-Andrade, Gabriela, Carss, Keren J, Logan, Darren W
Publicado 2012

Exome Sequencing in Fetuses with Structural Malformations

por Mackie, Fiona L., Carss, Keren J., Hillman, Sarah C., Hurles, Matthew E., Kilby, Mark D.
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

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

por 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
Publicado 2019

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

por 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
Publicado 2020

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

por Fiorentino, Alessia, Yu, Jing, Arno, Gavin, Pontikos, Nikolas, Halford, Stephanie, Broadgate, Suzanne, Michaelides, Michel, Carss, Keren J., Raymond, F. Lucy, Cheetham, Michael E., Webster, Andrew R., Downes, Susan M., Hardcastle, Alison J.
Publicado 2018

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

por 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.
Publicado 2018

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

por 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
Publicado 2018

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

por 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., Raymond, F. Lucy, Robson, Anthony G., Webster, Andrew R., Arno, Gavin, Porto, Fernanda Belga Ottoni, Chen, Rui
Publicado 2020

A clinical and molecular characterisation of CRB1-associated maculopathy

por 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
Publicado 2018

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

por Ito, Yoko, Carss, Keren J., Duarte, Sofia T., Hartley, Taila, Keren, Boris, Kurian, Manju A., Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline, Pfundt, Rolph, Sanchis-Juan, Alba, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Boycott, Kym M., Kernohan, Kristin D., Dyack, Sarah, Raymond, F. Lucy
Publicado 2018

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

por 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
Publicado 2017

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

por 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.
Publicado 2018

Delineating the expanding phenotype associated with SCAPER gene mutation

por Fasham, James, Arno, Gavin, Lin, Siying, Xu, Mingchu, Carss, Keren J., Hull, Sarah, Lane, Amelia, Robson, Anthony G., Wenger, Olivia, Self, Jay E., Harlalka, Gaurav V., Salter, Claire G., Schema, Lynn, Moss, Timothy J., Cheetham, Michael E., Moore, Anthony T., Raymond, F. Lucy, Chen, Rui, Baple, Emma L., Webster, Andrew R., Crosby, Andrew H.
Publicado 2019

Phenotypic insights into ADCY5‐associated disease

por 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.
Publicado 2016

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

por Arno, Gavin, Agrawal, Smriti A., Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A., Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J., Fiorentino, Alessia, Hayes, Matthew J., Munro, Peter M., Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E., Asomugha, Chinwe, Raymond, F. Lucy, Moore, Anthony T., Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Li, Yumei, Cukras, Catherine, Webster, Andrew R., Cheetham, Michael E., Chen, Rui
Publicado 2016

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing

por 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
Publicado 2020

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

por Tuijnenburg, Paul, Lango Allen, Hana, Burns, Siobhan O., Greene, Daniel, Jansen, Machiel H., Staples, Emily, Stephens, Jonathan, Carss, Keren J., Biasci, Daniele, Baxendale, Helen, Thomas, Moira, Chandra, Anita, Kiani-Alikhan, Sorena, Longhurst, Hilary J., Seneviratne, Suranjith L., Oksenhendler, Eric, Simeoni, Ilenia, de Bree, Godelieve J., Tool, Anton T.J., van Leeuwen, Ester M.M., Ebberink, Eduard H.T.M., Meijer, Alexander B., Tuna, Salih, Whitehorn, Deborah, Brown, Matthew, Turro, Ernest, Thrasher, Adrian J., Smith, Kenneth G.C., Thaventhiran, James E., Kuijpers, Taco W.
Publicado 2018

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

por Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.
Publicado 2019