Using human genetics to improve safety assessment of therapeutics von 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

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

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Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound von Carss, Keren J, Hillman, Sarah C, Parthiban, Vijaya, McMullan, Dominic J, Maher, Eamonn R, Kilby, Mark D, Hurles, Matthew E

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan von 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

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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan von 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

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Phenotypic insights into ADCY5-associated disease von 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.

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A clinical and molecular characterisation of CRB1-associated maculopathy von 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

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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders von 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.

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Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans von Ba-Abbad, Rola, MD, Arno, Gavin, PhD, Carss, Keren, PhD, Stirrups, Kathleen, PhD, Penkett, Christopher J., PhD, Moore, Anthony T., MD, Michaelides, Michel, MD, Raymond, F. Lucy, MA, DPhil, Webster, Andrew R., MD, Holder, Graham E., PhD

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Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy von Levine, Adam P., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Wong, Edwin K. S., Cook, H. Terence, Ashford, Sofie, Carss, Keren, Christian, Martin T., Hall, Matthew, Harris, Claire Louise, McAlinden, Paul, Marchbank, Kevin J., Marks, Stephen D., Maxwell, Heather, Megy, Karyn, Penkett, Christopher J., Mozere, Monika, Stirrups, Kathleen E., Tuna, Salih, Wessels, Julie, Whitehorn, Deborah, Johnson, Sally A., Gale, Daniel P.

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Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration von Ku, Cristy A, Hull, Sarah, Arno, Gavin, Vincent, Ajoy, Carss, Keren, Kayton, Robert, Weeks, Douglas, Anderson, Glenn W, Geraets, Ryan, Parker, Camille, Pearce, David A, Michaelides, Michel, MacLaren, Robert E, Robson, Anthony G, Holder, Graham E, Heon, Elise, Raymond, F. Lucy, Moore, Anthony T, Webster, Andrew R, Pennesi, Mark E

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Genomic variation in the vomeronasal receptor gene repertoires of inbred mice von Wynn, Elizabeth H, Sánchez-Andrade, Gabriela, Carss, Keren J, Logan, Darren W

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De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability von Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy

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Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy von 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.

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GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome von 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

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

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

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

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

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Delineating the expanding phenotype associated with SCAPER gene mutation von 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.

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