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Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (RGS9) Borchert, Grace A.; Heath Jeffery, Rachael C.; Sperring, Sian; Shanks, Morag; Whitfield, Jennifer; Clouston, Penny; Lamey, Tina; Thompson, Jennifer A.; Roshandel, Danial; Chelva, Enid S.; Cottriall, Charles; Xue, Kanmin; De Silva, Samantha R.; Cehajic-Kapetanovic, Jasmina; MacLaren, Robert E.; McLaren, Terri; Nemeth, Andrea H.; Downes, Susan M.; Chen, Fred K. Share Save
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Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism Hengel, Holger; Hannan, Shabab B.; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K.; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H.; Lundberg, Julie; Rodan, Lance H.; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A.; Reich, Stephen; Toro, Camilo; Zuechner, Stephan; Hazan, Jamile; Petursson, Hjoervar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schoels, Ludger; Synofzik, Matthis Share Save
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A.; Sergeev, Yuri, V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J.; Prasov, Lev; Shi, Ruifang; Dollfus, Helene; Aristodemou, Petros; Laich, Yannik; Nemeth, Andrea H.; Taylor, John; Downes, Susan; Krawczynski, Maciej R.; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A.; Moore, Anthony T.; Duncan, Jacque L.; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L.; Siskind, Carly E.; Traboulsi, Elias, I; Blackstone, Craig; Sisk, Robert A.; Utz, Virginia Miraldi; Webster, Andrew R.; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B. Share Save
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt Shepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renee; Clayton-Smith, Jill; Crawford, Ali; Duno, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Kesh, Leila Amel Riazat; Kury, Sebastien; Lecoquierre, Francois; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Nemeth, Andrea H.; Ostergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan Share Save
Subthalamic nucleus shows opposite functional connectivity pattern in Huntington's and Parkinson's disease Evangelisti, Stefania; Boessenkool, Sirius; Pflanz, Chris Patrick; Basting, Romina; Betts, Jill F.; Jenkinson, Mark; Clare, Stuart; Muhammed, Kinan; LeHeron, Campbell; Armstrong, Richard; Klein, Johannes C.; Husain, Masud; Nemeth, Andrea H.; Hu, Michele T.; Douaud, Gwenaelle Share Save
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis (vol 146, pg 5060, 2023) Dominik, Natalia; Magri, Stefania; Curro, Riccardo; Abati, Elena; Facchini, Stefano; Corbetta, Marinella; Macpherson, Hannah; Di Bella, Daniela; Sarto, Elisa; Stevanovski, Igor; Chintalaphani, Sanjog R.; Akcimen, Fulya; Manini, Arianna; Vegezzi, Elisa; Quartesan, Ilaria; Montgomery, Kylie-Ann; Pirota, Valentina; Crespan, Emmanuele; Perini, Cecilia; Grupelli, Glenda Paola; Tomaselli, Pedro J.; Marques, Wilson; Shaw, Joseph; Polke, James; Salsano, Ettore; Fenu, Silvia; Pareyson, Davide; Pisciotta, Chiara; Tofaris, George K.; Nemeth, Andrea H.; Ealing, John; Radunovic, Aleksandar; Kearney, Seamus; Kumar, Kishore R.; Vucic, Steve; Kennerson, Marina; Reilly, Mary M.; Houlden, Henry; Deveson, Ira; Tucci, Arianna; Taroni, Franco; Cortese, Andrea Share Save
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K.; Dabir, Tabib; Morrison, Patrick J.; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E.; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E.; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J. M.; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martinez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D.; Becker, Esther B. E.; Nemeth, Andrea H. Share Save
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Banos-Pinero, Benito; Beeson, David; Ben-Ami, Tal; Bennett, David L.; Bento, Celeste; Blair, Edward; Brasch-Andersen, Charlotte; Bull, Katherine R.; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E. Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E.; Guerrini, Renzo; Harris, Adrian L.; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J. L.; Kreins, Alexandra Y.; Kvikstad, Erika M.; Langman, Craig B.; Lester, Tracy; Lines, Kate E.; Lord, Simon R.; Lu, Xin; Mansour, Sahar; Manzur, Adnan; Maroofian, Reza; Marsden, Brian; Mason, Joanne; McGowan, Simon J.; Mei, Davide; Mlcochova, Hana; Murakami, Yoshiko; Nemeth, Andrea H.; Okoli, Steven; Ormondroyd, Elizabeth; Ousager, Lilian Bomme; Palace, Jacqueline; Patel, Smita Y.; Pentony, Melissa M.; Pugh, Chris; Rad, Aboulfazl; Ramesh, Archana; Riva, Simone G.; Roberts, Irene; Roy, Noemi; Salminen, Outi; Schilling, Kyleen D.; Scott, Caroline; Sen, Arjune; Smith, Conrad; Stevenson, Mark; Thakker, Rajesh V.; Twigg, Stephen R. F.; Uhlig, Holm H.; van Wijk, Richard; Vona, Barbara; Wall, Steven; Wang, Jing; Watkins, Hugh; Zak, Jaroslav; Schuh, Anna H.; Kini, Usha; Wilkie, Andrew O. M.; Popitsch, Niko; Taylor, Jenny C. Share Save
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy (vol 24 , pg 2079 , 2022) Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Downes, Susan M.; Nemeth, Andrea H.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Nguyen, Huu Phuc; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schols, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger Share Save
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population Lam, Tanya; Rocca, Clarissa; Ibanez, Kristina; Dalmia, Anupriya; Tallman, Samuel; Hadjivassiliou, Marios; Hensiek, Anke; Nemeth, Andrea; Facchini, Stefano; Wood, Nicholas; Cortese, Andrea; Houlden, Henry; Tucci, Arianna Share Save
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis Dominik, Natalia; Magri, Stefania; Curro, Riccardo; Abati, Elena; Facchini, Stefano; Corbetta, Marinella; Macpherson, Hannah; Di Bella, Daniela; Sarto, Elisa; Stevanovski, Igor; Chintalaphani, Sanjog R.; Akcimen, Fulya; Manini, Arianna; Vegezzi, Elisa; Quartesan, Ilaria; Montgomery, Kylie-Ann; Pirota, Valentina; Crespan, Emmanuele; Perini, Cecilia; Grupelli, Glenda Paola; Tomaselli, Pedro J.; Marques, Wilson; Shaw, Joseph; Polke, James; Salsano, Ettore; Fenu, Silvia; Pareyson, Davide; Pisciotta, Chiara; Tofaris, George K.; Nemeth, Andrea H.; Ealing, John; Radunovic, Aleksandar; Kearney, Seamus; Kumar, Kishore R.; Vucic, Steve; Kennerson, Marina; Reilly, Mary M.; Houlden, Henry; Deveson, Ira; Tucci, Arianna; Taroni, Franco; Cortese, Andrea Share Save
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants Steel, Dora Batia Dyne; Danti, Federica Rachele; Abunada, Mohamed; Kamien, Benjamin; Malhotra, Sony; Topf, Maya; Kaliakatsos, Marios; Valentine, Jane; Nemeth, Andrea Hilary; Jayawant, Sandeep; Reid, Kimberley M.; Mankad, Kshitij; Sudhakar, Sniya; Ben-Pazi, Hilla; Barwick, Katy; Kurian, Manju A. Share Save
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation Bernkopf, Marie; Abdullah, Ummi B.; Bush, Stephen J.; Wood, Katherine A.; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J.; Thibaut, Loic M.; Williams, Jonathan; Blair, Edward M.; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T.; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A.; Johnson, Diana; Jones, Wendy D.; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M.; Leitch, Harry G.; Morton, Jenny E. V.; Nemeth, Andrea H.; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J.; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W.; Wilkie, Andrew O. M.; Goriely, Anne Share Save
Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers Thomas-Black, Gilbert; Altmann, Daniel R.; Crook, Harry; Solanky, Nita; Carrasco, Ferran Prados; Battiston, Marco; Grussu, Francesco; Yiannakas, Marios C.; Kanber, Baris; Jolly, Jasleen K.; Brett, Jon; Downes, Susan M.; Moran, Marni; Chan, Ping K.; Adewunmi, Emmanuel; Wheeler-Kingshott, Claudia A. M. Gandini; Nemeth, Andrea H.; Festenstein, Richard; Bremner, Fion; Giunti, Paola Share Save
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder Magrinelli, Francesca; Rocca, Clarissa; Simone, Roberto; Zenezini Chiozzi, Riccardo; Jaunmuktane, Zane; Mencacci, Niccolo E.; Tinazzi, Michele; Jayawant, Sandeep; Nemeth, Andrea H. H.; Demidov, German; Houlden, Henry; Bhatia, Kailash P. P. Share Save
The Phenotypic Continuum of ATP1A3-Related Disorders Vezyroglou, Aikaterini; Akilapa, Rhoda; Barwick, Katy; Koene, Saskia; Brownstein, Catherine A.; Holder-Espinasse, Muriel; Fry, Andrew E.; Nemeth, Andrea H.; Tofaris, George K.; Hay, Eleanor; Hughes, Imelda; Mansour, Sahar; Mordekar, Santosh R.; Splitt, Miranda; Turnpenny, Peter D.; Demetriou, Demetria; Koopmann, Tamara T.; Ruivenkamp, Claudia A. L.; Agrawal, Pankaj B.; Carr, Lucinda; Clowes, Virginia; Ghali, Neeti; Holder, Susan Elizabeth; Radley, Jessica; Male, Alison; Sisodiya, Sanjay M.; Kurian, Manju A.; Cross, J. Helen; Balasubramanian, Meena Share Save
Highlighting the Dystonic Phenotype Related to GNAO1 Wirth, Thomas; Garone, Giacomo; Kurian, Manju A.; Piton, Amelie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jeremie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaetan; Calmels, Nadege; Nemeth, Andrea H.; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Meneret, Aurelie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando, Jr.; Nowak, Catherine; Wilson, William G.; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu Share Save
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report Smedley, Damian; Smith, Katherine R.; Martin, Antonio; Thomas, Ellen A.; McDonagh, Ellen M.; Cipriani, Valentina; Ellingford, Jamie M.; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J.; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R.; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmstrom, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R. Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G.; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Graf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G.; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L. T.; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E.; Daugherty, Louise C.; Niblock, Olivia; Leong, Ivone U. S.; Wright, Caroline F.; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A.; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R.; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C.; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J.; Humphray, Sean J.; Robinson, Peter N.; Haendel, Melissa; Simpson, Michael A.; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B.; O'Keefe, Raymond T.; Michaelides, Michel; Moore, Anthony T.; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C.; Straub, Volker; Gorman, Grainne S.; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M.; Yu-Wai-Man, Patrick; Turnbull, Doug M.; McFarland, Robert; Taylor, Robert W.; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R.; Polke, James; Wood, Nicholas W.; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Roy, Noemi B. A.; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O.; Seaby, Eleanor G.; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I. Karen; Mumford, Andrew D.; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R.; Brennan, Paul; Burn, John; Chinnery, Patrick F.; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A.; Taylor, Jenny C.; Webster, Andrew R.; Wilkie, Andrew O. M.; Ouwehand, Willem H.; Raymond, F. Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H.; Fowler, Tom; Rendon, Augusto; Caulfield, Mark Share Save
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