Not logged in Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country Frezatti, Rodrigo Siqueira Soares; Tomaselli, Pedro Jose; Record, Christopher J.; Wilson, Lindsay A.; Alves, Gustavo Maximiano; Dominik, Natalia; Efthymiou, Stephanie; Patel, Krutik; Vandrovcova, Jana; Mannikko, Roope; Pitceathly, Robert D. S.; Sobreira, Claudia Ferreira da Rosa; McFarland, Robert; Taylor, Robert W.; Houlden, Henry; Hanna, Michael G.; Reilly, Mary M.; Marques, Wilson Share Save
Increased frequency of repeat expansion mutations across different populations Ibanez, Kristina; Jadhav, Bharati; Zanovello, Matteo; Gagliardi, Delia; Clarkson, Christopher; Facchini, Stefano; Garg, Paras; Martin-Trujillo, Alejandro; Gies, Scott J.; Deforie, Valentina Galassi; Dalmia, Anupriya; Moss, Davina J. Hensman; Vandrovcova, Jana; Rocca, Clarissa; Moutsianas, Loukas; Marini-Bettolo, Chiara; Walker, Helen; Turner, Chris; Shoai, Maryam; Long, Jeffrey D.; Fratta, Pietro; Langbehn, Douglas R.; Tabrizi, Sarah J.; Caulfield, Mark J.; Cortese, Andrea; Escott-Price, Valentina; Hardy, John; Houlden, Henry; Sharp, Andrew J.; Tucci, Arianna Share Save
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome Falabella, Micol; Pizzamiglio, Chiara; Tabara, Luis Carlos; Munro, Benjamin; Abdel-Hamid, Mohamed S.; Sonmezler, Ece; Macken, William L.; Lu, Shanti; Tilokani, Lisa; Flannery, Padraig J.; Patel, Nina; Pope, Simon A. S.; Heales, Simon J. R.; Hammadi, Dania B. H.; Alston, Charlotte L.; Taylor, Robert W.; Lochmuller, Hanns; Woodward, Cathy E.; Labrum, Robyn; Vandrovcova, Jana; Houlden, Henry; Chronopoulou, Efstathia; Pierre, Germaine; Maroofian, Reza; Hanna, Michael G.; Taanman, Jan-Willem; Hiz, Semra; Oktay, Yavuz; Zaki, Maha S.; Horvath, Rita; Prudent, Julien; Pitceathly, Robert D. S. Share Save
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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie L.; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; Van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossee, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William D.; Wierenga, Klaas J.; Klee, Eric W.; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel Share Save
Profiling complex repeat expansions in RFC1 in Parkinson's disease Jerez, Pilar Alvarez; Daida, Kensuke; Miano-Burkhardt, Abigail; Iwaki, Hirotaka; Malik, Laksh; Cogan, Guillaume; Makarious, Mary B.; Sullivan, Roisin; Vandrovcova, Jana; Ding, Jinhui; Gibbs, J. Raphael; Markham, Androo; Nalls, Mike A.; Kesharwani, Rupesh K.; Sedlazeck, Fritz J.; Casey, Bradford; Hardy, John; Houlden, Henry; Blauwendraat, Cornelis; Singleton, Andrew B.; Billingsley, Kimberley J. Share Save
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation Yau, Wai Yan; Ashton, Catherine; Mulroy, Eoin; Foltynie, Thomas; Limousin, Patricia; Vandrovcova, Jana; Verma, Kunal P.; Stell, Rick; Davis, Mark; Lamont, Phillipa Share Save
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervag, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Ase K.; Caiella, Alessia; Glomnes, Nina; Bronstad, Kirsten M.; Tury, Sandrine; De Luca, Andres Moreno; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-Francois; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; Ipek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da'as, Sahar I.; Fakhro, Khalid A.; Gomez-Pascual, Alicia; Botia, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gael; Arnesen, Thomas; Houlden, Henry Share Save
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study Bisschoff, Michelle; Smuts, Izelle; Dercksen, Marli; Schoonen, Maryke; Vorster, Barend C.; van der Watt, George; Spencer, Careni; Naidu, Kireshnee; Henning, Franclo; Meldau, Surita; McFarland, Robert; Taylor, Robert W.; Patel, Krutik; Fassad, Mahmoud R.; Vandrovcova, Jana; Wanders, Ronald J. A.; van der Westhuizen, Francois H. Share Save
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples (Oct, 10.1038/s41431-023-01478-7, 2023) Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Topf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian Share Save
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Toepf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian Share Save
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome Vandersteen, Anthony M.; Weerakkody, Ruwan A.; Parry, David A.; Kanonidou, Christina; Toddie-Moore, Daniel J.; Vandrovcova, Jana; Darlay, Rebecca; Santoyo-Lopez, Javier; Meynert, Alison; Kazkaz, Hanadi; Grahame, Rodney; Cummings, Carole; Bartlett, Marion; Ghali, Neeti; Brady, Angela F.; Pope, F. Michael; van Dijk, Fleur S.; Cordell, Heather J.; Aitman, Timothy J. Share Save
Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally D'Sa, Karishma; Guelfi, Sebastian; Vandrovcova, Jana; Reynolds, Regina H.; Zhang, David; Hardy, John; Botia, Juan A.; Weale, Michael E.; Taliun, Sarah A. Gagliano; Small, Kerrin S.; Ryten, Mina Share Save
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor Winsvold, Bendik; Harder, Aster V. E. A.; Ran, Caroline; Chalmer, Mona; Dalmasso, Maria Carolina; Ferkingstad, Egil; Tripathi, Kumar Parijat; Bacchelli, Elena; Borte, Sigrid; Fourier, Carmen S.; Petersen, Anja H.; Vijfhuizen, Lisanne; Magnusson, Sigurdur; O'Connor, Emer; Bjornsdottir, Gyda; Happola, Paavo; Wang, Yen-Feng; Callesen, Ida; Kelderman, Tim; Gallardo, Victor J.; de Boer, Irene; Olofsgard, Felicia Jennysdotter; Heinze, Katja; Lund, Nunu; Thomas, Laurent F.; Hsu, Chia-Lin; Pirinen, Matti; Hautakangas, Heidi; Ribases, Marta; Guerzoni, Simona; Sivakumar, Prasanth; Yip, Janice; Heinze, Axel; Kucukali, Fahri B.; Ostrowski, Sisse S.; Pedersen, Ole E.; Kristoffersen, Espen S.; Martinsen, Amy E.; Artigas, Maria S.; Lagrata, Susie; Cainazzo, Maria Michela; Adebimpe, Joycee; Quinn, Olivia; Goebel, Carl E.; Cirkel, Anna; Volk, Alexander; Heilmann-Heimbach, Stefanie E.; Skogholt, Anne Heidi; Gabrielsen, Maiken E.; Wilbrink, Leopoldine A.; Danno, Daisuke; Mehta, Dwij R.; Guobjartsson, Daniel F.; Rosendaal, Frits R.; van Dijk, Ko Willems; Fronczek, Rolf A.; Wagner, Michael; Scherer, Martin; Goebel, Hartmut A.; Sleegers, Kristel; Sveinsson, Olafur; Pani, Luca; Zoli, Michele; Ramos-Quiroga, Josep A.; Dardiotis, Efthimios; Steinberg, Anna; Riedel-Heller, Steffi; Sjostrand, Christina; Thorgeirsson, Thorgeir E.; Stefansson, Hreinn; Southgate, Laura; Trembath, Richard C.; Vandrovcova, Jana; Noordam, Raymond; Paemeleire, Koen H.; Stefansson, Kari; Fann, Cathy Shen-Jang; Waldenlind, Elisabet; Tronvik, Erling; Jensen, Rigmor H.; Chen, Shih-Pin; Houlden, Henry; Terwindt, Gisela C.; Kubisch, Christian; Maestrini, Elena; Vikelis, Michail; Pozo-Rosich, Patricia; Belin, Andrea C.; Matharu, Manjit; van den Maagdenberg, Arn M. J. M.; Hansen, Thomas F.; Ramirez, Alfredo; Zwart, John-Anker Share Save
Neuromuscular disease genetics in under-represented populations: increasing data diversity Wilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; Polat, Ipek; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; van der Westhuizen, Francois H.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G. Share Save
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia Morsy, Heba; Benkirane, Mehdi; Cali, Elisa; Rocca, Clarissa; Zhelcheska, Kristina; Cipriani, Valentina; Galanaki, Evangelia; Maroofian, Reza; Efthymiou, Stephanie; Murphy, David; O'Driscoll, Mary; Suri, Mohnish; Banka, Siddharth; Clayton-Smith, Jill; Wright, Thomas; Redman, Melody; Bassetti, Jennifer A.; Nizon, Mathilde; Cogne, Benjamin; Abu Jamra, Rami; Bartolomaeus, Tobias; Heruth, Marion; Krey, Ilona; Gburek-Augustat, Janina; Wieczorek, Dagmar; Gattermann, Felix; Mcentagart, Meriel; Goldenberg, Alice; Guyant-Marechal, Lucie; Garcia-Moreno, Hector; Giunti, Paola; Chabrol, Brigitte; Bacrot, Severine; Buissonniere, Roger; Magry, Virginie; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Melegh, Bela; Szabo, Andras; Sumegi, Katalin; Cossee, Mireille; Ziff, Monica; Butterfield, Russell; Hunt, David; Bird-Lieberman, Georgina; Hanna, Michael; Koenig, Michel; Stankewich, Michael; Vandrovcova, Jana; Houlden, Henry Share Save
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease Rebelo, Adriana P.; Ruiz, Ariel; Dohrn, Maike F.; Wayand, Melanie; Farooq, Amjad; Danzi, Matt C.; Beijer, Danique; Aaron, Brooke; Vandrovcova, Jana; Houlden, Henry; Matalonga, Leslie; Abreu, Lisa; Rouleau, Guy; Estiar, Mehrdad A.; Van de Vondel, Liedewei; Gan-Or, Ziv; Baets, Jonathan; Schuele, Rebecca; Zuchner, Stephan Share Save
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing Macken, William L.; Falabella, Micol; McKittrick, Caroline; Pizzamiglio, Chiara; Ellmers, Rebecca; Eggleton, Kelly; Woodward, Cathy E.; Patel, Yogen; Labrum, Robyn; Phadke, Rahul; Reilly, Mary M.; DeVile, Catherine; Sarkozy, Anna; Footitt, Emma; Davison, James; Rahman, Shamima; Houlden, Henry; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G.; Vandrovcova, Jana; Pitceathly, Robert D. S. 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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