First-line genomic diagnosis of mitochondrial disorders
Raymond, F. Lucy, Horvath, Rita, Chinnery, Patrick F.
Published in Nature reviews. Genetics (01.07.2018)
Published in Nature reviews. Genetics (01.07.2018)
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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
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
Published in Bioinformatics (01.11.2019)
Published in Bioinformatics (01.11.2019)
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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
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.
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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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
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
Published in American journal of human genetics (03.04.2014)
Published in American journal of human genetics (03.04.2014)
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Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth
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.
Published in American journal of human genetics (06.03.2014)
Published in American journal of human genetics (06.03.2014)
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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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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
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.
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Psychiatric disorders in children with 16p11.2 deletion and duplication
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
Published in Translational psychiatry (16.01.2019)
Published in Translational psychiatry (16.01.2019)
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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
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
Published in Investigative ophthalmology & visual science (03.05.2021)
Published in Investigative ophthalmology & visual science (03.05.2021)
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A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
Turro, Ernest, Greene, Daniel, Wijgaerts, Anouck, Thys, Chantal, Lentaigne, Claire, Bariana, Tadbir K, Westbury, Sarah K, Kelly, Anne M, Selleslag, Dominik, Stephens, Jonathan C, Papadia, Sofia, Simeoni, Ilenia, Penkett, Christopher J, Ashford, Sofie, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Deevi, Sri V V, Favier, Rémi, Kostadima, Myrto, Lambert, Michele P, Mathias, Mary, Millar, Carolyn M, Peerlinck, Kathelijne, Perry, David J, Schulman, Sol, Whitehorn, Deborah, Wittevrongel, Christine, De Maeyer, Marc, Rendon, Augusto, Gomez, Keith, Erber, Wendy N, Mumford, Andrew D, Nurden, Paquita, Stirrups, Kathleen, Bradley, John R, Raymond, F Lucy, Laffan, Michael A, Van Geet, Chris, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H
Published in Science translational medicine (02.03.2016)
Published in Science translational medicine (02.03.2016)
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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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Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration
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
Published in JAMA ophthalmology (01.07.2017)
Published in JAMA ophthalmology (01.07.2017)
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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability
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
Published in American journal of medical genetics. Part A (01.04.2019)
Published in American journal of medical genetics. Part A (01.04.2019)
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Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans
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
Published in Ophthalmology (Rochester, Minn.) (01.03.2016)
Published in Ophthalmology (Rochester, Minn.) (01.03.2016)
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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
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
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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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
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
Published in Diabetes (New York, N.Y.) (01.12.2006)
Published in Diabetes (New York, N.Y.) (01.12.2006)
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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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Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability
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
Published in PloS one (13.08.2021)
Published in PloS one (13.08.2021)
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