First-line genomic diagnosis of mitochondrial disorders von Raymond, F. Lucy, Horvath, Rita, Chinnery, Patrick F.

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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions von Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett, Scheffler, Konrad, van Vugt, Joke J F A, French, Courtney, Sanchis-Juan, Alba, Ibáñez, Kristina, Tucci, Arianna, Lajoie, Bryan R, Veldink, Jan H, Raymond, F Lucy, Taft, Ryan J, Bentley, David R, Eberle, Michael A

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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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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data von Chen, Xiao, Sanchis-Juan, Alba, French, Courtney E., Connell, Andrew J., Delon, Isabelle, Kingsbury, Zoya, Chawla, Aditi, Halpern, Aaron L., Taft, Ryan J., Bentley, David R., Butchbach, Matthew E. R., Raymond, F. Lucy, Eberle, Michael A.

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Recommendations for designing genetic test reports to be understood by patients and non-specialists von Farmer, George D, Gray, Harry, Chandratillake, Gemma, Raymond, F Lucy, Freeman, Alexandra L J

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Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth von Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.

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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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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions von Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash 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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Psychiatric disorders in children with 16p11.2 deletion and duplication von Niarchou, Maria, Chawner, Samuel J. R. A., Doherty, Joanne L., Maillard, Anne M., Jacquemont, Sébastien, Chung, Wendy K., Green-Snyder, LeeAnne, Bernier, Raphael A., Goin-Kochel, Robin P., Hanson, Ellen, Linden, David E. J., Linden, Stefanie C., Raymond, F. Lucy, Skuse, David, Hall, Jeremy, Owen, Michael J., Bree, Marianne B. M. van den

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Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins von Hasenahuer, Marcia A., Sanchis-Juan, Alba, Laskowski, Roman A., Baker, James A., Stephenson, James D., Orengo, Christine A., Raymond, F. Lucy, Thornton, Janet M.

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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature von Jurkute, Neringa, Shanmugarajah, Priya D, Hadjivassiliou, Marios, Higgs, Jenny, Vojcic, Miodrag, Horrocks, Iain, Nadjar, Yann, Touitou, Valerie, Lenaers, Guy, Poh, Roy, Acheson, James, Robson, Anthony G, Raymond, F Lucy, Reilly, Mary M, Yu-Wai-Man, Patrick, Moore, Anthony T, Webster, Andrew R, Arno, Gavin

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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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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability von Nicola, Pantelis, Blackburn, Patrick R., Rasmussen, Kristen J., Bertsch, Nicole L., Klee, Eric W., Hasadsri, Linda, Pichurin, Pavel N., Rankin, Julia, Raymond, F. Lucy, Clayton‐Smith, Jill

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements von Froyen, Guy, Belet, Stefanie, Martinez, Francisco, Santos-Rebouças, Cíntia Barros, Declercq, Matthias, Verbeeck, Jelle, Donckers, Lene, Berland, Siren, Mayo, Sonia, Rosello, Monica, Pimentel, Márcia Mattos Gonçalves, Fintelman-Rodrigues, Natalia, Hovland, Randi, Rodrigues dos Santos, Suely, Raymond, F. Lucy, Bose, Tulika, Corbett, Mark A., Sheffield, Leslie, van Ravenswaaij-Arts, Conny M.A., Dijkhuizen, Trijnie, Coutton, Charles, Satre, Veronique, Siu, Victoria, Marynen, Peter

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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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Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene von GRAY, Juliette, YEO, Giles S. H, HODGES, John R, RAYMOND, F. Lucy, O'RAHILLY, Stephen, SADAF FAROOQI, I, COX, James J, MORTON, Jenny, ADLAM, Anna-Lynne R, KEOGH, Julia M, YANOVSKI, Jack A, EL GHARBAWY, Areeg, HAN, Joan C, LORAINE TUNG, Y. C

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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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Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability von Bengani, Hemant, Grozeva, Detelina, Moyon, Lambert, Bhatia, Shipra, Louros, Susana R, Hope, Jilly, Jackson, Adam, Prendergast, James G, Owen, Liusaidh J, Naville, Magali, Rainger, Jacqueline, Grimes, Graeme, Halachev, Mihail, Murphy, Laura C, Spasic-Boskovic, Olivera, van Heyningen, Veronica, Kind, Peter, Abbott, Catherine M, Osterweil, Emily, Raymond, F Lucy, Roest Crollius, Hugues, FitzPatrick, David R

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Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach von Donnelly, Nicholas, Cunningham, Adam, Salas, Sergio Marco, Bracher-Smith, Matthew, Chawner, Samuel, Stochl, Jan, Ford, Tamsin, Raymond, F Lucy, Escott-Price, Valentina, van den Bree, Marianne B M

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