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Nationwide, Couple-Based Genetic Carrier Screening Kirk, E. P.; Delatycki, M. B.; Archibald, A. D.; Tutty, E.; Caruana, J.; Halliday, J. L.; Lewis, S.; Mcclaren, B. J.; Newson, A. J.; Dive, L.; Best, S.; Long, J. C.; Braithwaite, J.; Downes, M. J.; Scuffham, P. A.; Massie, J.; Barlow-Stewart, K.; Kulkarni, A.; Ruscigno, A.; Kanga-Parabia, A.; Rodrigues, B.; Bennetts, B. H.; Ebzery, C.; Hunt, C.; Cliffe, C. C.; Lee, C.; Azmanov, D.; King, E. A.; Madelli, E. O.; Zhang, F.; Ho, G.; Danos, I.; Liebelt, J.; Fletcher, J.; Kennedy, J.; Beilby, J.; Emery, J. D.; Mcgaughran, J.; Marum, J. E.; Scarff, K.; Fisk, K.; Harrison, K.; Boggs, K.; Giameos, L.; Fitzgerald, L.; Thomas, L.; Burnett, L.; Freeman, L.; Harris, M.; Berbic, M.; Davis, M. R.; Cifuentes Ochoa, M.; Wallis, M.; Wall, M.; Chow, M. T. M.; Ferrie, M. M.; Pachter, N.; Quayum, N.; Lang, N.; Pandy, P. Kasi; Casella, R.; Allcock, R. J. N.; Ong, R.; Edwards, S.; Sundercombe, S.; Jelenich, S.; Righetti, S.; Lunke, S.; Kaur, S.; Stock-Myer, S.; Eggers, S.; Walker, S. P.; Theodorou, T.; Catchpool, T.; Clinch, T.; Roscioli, T.; Hardy, T.; Zhu, Y.; Fehlberg, Z.; Boughtwood, T. F.; Laing, N. G. Share Save
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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C. Share Save
A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy Llanso, Laura; Ravenscroft, Gianina; Aceituno, Cristina; Gutierrez, Antonio; Parmar, Jevin; Gallano, Pia; Caballero-avila, Marta; Carbayo, Alvaro; Vesperinas, Ana; Collet, Roger; Blanco, Rosa; Laing, Nigel; Hove-Madsen, Leif; Gallardo, Eduard; Olive, Montse Share Save
Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with RFC1 expansions Garvey, Anthony; Melville, I. Zay; Scriba, Carolin K.; Yong, Vivien; Rodrigues, Miriam; Kao, Justin; Glenn, Melanie; Patel, Shilpan; Chang, Thomas; Caldwell, James; Ren, Caitlyn; Laing, Nigel G.; Ravenscroft, Gianina; Pelosi, Luciana; Taylor, Rachael L.; Roxburgh, Richard Share Save
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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Oflazer, Piraye; Basak, Nazli A.; Kayserili, Hulya; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele Share Save
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus Pellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josee; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Celine; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C. Share Save
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing Grosz, Bianca R.; Parmar, Jevin M.; Ellis, Melina; Bryen, Samantha; Simons, Cas; Reis, Andre L. M.; Stevanovski, Igor; Deveson, Ira W.; Nicholson, Garth; Laing, Nigel; Wallis, Mathew; Ravenscroft, Gianina; Kumar, Kishore R.; Vucic, Steve; Kennerson, Marina L. Share Save
Genome Sequencing for Diagnosing Rare Diseases Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne Share Save
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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne Share Save
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Donkervoort, Sandra; van de Locht, Martijn; Ronchi, Dario; Reunert, Janine; McLean, Catriona A.; Zaki, Maha; Orbach, Rotem; de Winter, Josine M.; Conijn, Stefan; Hoomoedt, Daan; Neto, Osorio Lopes Abath; Magri, Francesca; Viaene, Angela N.; Foley, A. Reghan; Gorokhova, Svetlana; Bolduc, Veronique; Hu, Ying; Acquaye, Nicole; Napoli, Laura; Park, Julien H.; Immadisetty, Kalyan; Miles, Lee B.; Essawi, Mona; McModie, Salar; Ferreira, Leonardo F.; Zanotti, Simona; Neuhaus, Sarah B.; Medne, Livija; ElBagoury, Nagham; Johnson, Kory R.; Zhang, Yong; Laing, Nigel G.; Davis, Mark R.; Bryson-Richardson, Robert J.; Hwee, Darren T.; Hartman, James J.; Malik, Fady I.; Kekenes-Huskey, Peter M.; Comi, Giacomo Pietro; Sharaf-Eldin, Wessam; Marquardt, Thorsten; Ravenscroft, Gianina; Bonnemann, Carsten G.; Ottenheijm, Coen A. C. Share Save
Clinical and cardiovascular magnetic resonance profile of cardiomyopathy patients from South Africa: Pilot of the IMHOTEP study Kraus, S. M.; Samuels, P.; Jermy, S.; Laing, N.; Van der Wall, M.; September, U.; Ntsekhe, M.; Chin, A.; Moosa, S.; Sliwa, K.; Ntusi, N. A. B. Share Save
A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia Pellerin, David; Danzi, Matt; Wilke, Carlo; Renaud, Mathilde; Fazal, Sarah; Dicaire, Marie-Josee; Scribah, Carolin; Ashton, Catherine; Genis, David; Porcel, Laura Molina; Nagy, Sara; Nalini, Atchayaram; Boycott, Kym; Duquette, Antoine; Houlden, Henry; Ravenscroft, Gianina; Laing, Nigel; Lamont, Phillipa; Schoels, Ludger; La Piana, Roberta; Synofzik, Matthis; Zuchner, Stephan; Brais, Bernard Share Save
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