학술논문

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ㅏ	あ a	ぁ	か ka	が ga	さ sa	ざ za	た ta	だ da		な na	は ha	ば ba	ぱ pa	ま ma	や ya	ゃ lya	ら ra	わ wa	ゎ lwa	ん n
l	い i	ぃ	き ki	ぎ gi	し si	じ zi	ち ti	ぢ di		に ni	ひ hi	び bi	ぴ pi	み mi			り ri
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ㅔ	え e	ぇ	け ke	げ ge	せ se	ぜ ze	て te	で de		ね ne	へ he	べ be	ぺ pe	め me			れ re
ㅗ	お o	ぉ	こ ko	ご go	そ so	ぞ zo	と to	ど do		の no	ほ ho	ぼ bo	ぽ po	も mo	よ yo	ょ lyo	ろ ro	を wo

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l	イ i	ィ	キ ki	ギ gi	シ si	ジ zi	チ ti	ヂ di		ニ ni	ヒ hi	ビ bi	ピ pi	ミ mi			リ ri
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ㅔ	エ e	ェ	ケ ke	ゲ ge	セ se	ゼ ze	テ te	デ de		ネ ne	ヘ he	ベ be	ぺ pe	メ me			レ re
ㅗ	オ o	ォ	コ ko	ゴ go	ソ so	ゾ zo	ト to	ド do		ノ no	ホ ho	ボ bo	ポ po	モ mo	ヨ yo	ョ lyo	ロ ro	ヲ wo		ーー

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스페인어
à	á	Á	é	É	í	Í	Ó	ó	Ú	ú	Ñ	ñ	ä	Ä

발행년	- (예 : 2010-2015)

Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140

Academic Journal

Zagorec, Nikola; Calamel, Alizée; Delaporte, Margaux; Olinger, Eric; Orr, Sarah; Sayer, John A.; Pillay, Vignesh-Guru; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frederic; Nambot, Sophie; Faivre, Laurence; Ars, Elisabet; Torra, Roser; Ong, Albert C.M.; Devuyst, Olivier; Perico, Noberto; Després, Aurore Michel; Lemoine, Hugo; de Fallois, Jonathan; Brousse, Romain; Hummel, Aurélie; Knebelmann, Bertrand; Maisonneuve, Nathalie; Halbritter, Jan; Le Meur, Yannick; Audrézet, Marie-Pierre; Cornec-Le Gall, Emilie; Winterbottom, Jean; Simms, Roslyn J.; Caroli, Anna; Demoulin, Nathalie; Furlano, Monica; Pybus, Marc; Gansevoort, Ron; Meijer, Esther; Grall, A.; Moal, M.C.; Tanquerel, T.; Hanrotel, C.; Segalen, I.; Lanfranco, L.; C, Mesguen; A, Kersale; A, Capdeville; V, Huynh; Hourmant, M.; Dantal, J.; Giral, M.; Meurette, A.; Lino, M.; Garandeau, C.; Hodemon-Corne, B.; Allain-Launay, E.; Cantarovich, D.; Blancho, G.; Hristea, D.; Couvrat, G.; Fakhouri, F.; Lavainne, F.; Vercel, C.; Chapal, M.; Le Fur, A.; Gourraud, C.; Deltombe, C.; Vigneau, C.; Morin, M.P.; Le Pogamp, P.; Frouget, T.; Gie, S.; Rivalan, J.; Laruelle, E.; Richer, C.; Lorcy, N.; Golbin, L.; Terrasse, M.; Morice, S.; Brenier, H.; Michel, A.; Tomkiewicz, E.; Nguyen, Q.L.; Vabret, E.; Lavergne, A.; Pierre, E.; Chemouny, J.; Halimi, J.M.; Longuet, H.; Gatault, P.; Merieau, E.; Barbet, C.; Buchler, M.; Golea, G.; Ghouti, L.; Gautard, D.; Sautenet, B.; François, M.; Fournier, A.; Baron, C.; Salmon, C.; Rabot, N.; Prat, L.; Valentin, J.F.; Chevallier, E.; Birmele, B.; Genest, C.; Goin, N.; Goumard, A.; Bridoux, F.; Desport, E.; Thierry, A.; Ecotiere, L.; Touchard, G.; Belmouaz, M.; Javaugue, V.; Bauwens, M.; Fride-Leroy, F.; Goussard, G.; Bouteau, I.; Jacquemont, L.; Subra, J.F.; Augusto, J.F.; Duveau, A.; Besson, V.; Cousin, M.; Sayegh, J.; Onno, C.; Maghakian, M.N.; Demiselle, J.; Deschamps, C.; Garnier, A.S.; Guibert, F.; Planchais, M.; Charasse, C.; Stanescu, C.; Le Cacheux, P.; Baluta, S.; Leonetti, F.; Boulahrouz, R.; Ferrier, M.L.; Freguin, C.; Simon, A.; Potier, J.; Coulibaly, J.M.; Colombo, A.; Delezire, A.; Renaudineau, E.; Dolley-Hitze, T.; Perrichot, R.; Michez, E.; Mandart, L.; Menoyo, V.; Pincon, E.; Muresan, C.; Durand, P.Y.; Corlu, L.; Wegner, I.; Siohan, P.; Metes, I.; Guyon-Roger, T.; Wehbe, B.; Gueguen, L.; Drouet, C.; Loheac, C.; Sawadogo, T.; Le Guillou, A.; Le Jeune, M.; Beillard, G.; Lefevre, S.; Chamontin, C.; Georgescu, S.; Jousset, P.; Latif, R.; Massad, M.; Jaulin, J.P.; Querard, A.H.; Ottavioli, J.N.; Target, N.; Chapal, A.; Charpy, V.; Besnier, D.; Regnier-Le Coz, S.; Blanpain, A.; Durault, S.; Larmet, D.; Le Clech, A.; Pouteau, L.M.; Labatut, D.; Coindre, J.P.; Sigogne, M.; Piccoli, G.; Bachelet-Rousseau, C.; Delbes, S.; Fritz, O.; Pourreau, F.; Mzoughi, S.; Guillodo, M.P.; Gosselin, M.; Depraetre, P.; Strullu, B.; Chaffara, E.; Le Mee, M.; Terki, N.; Goulesque, K.; Benarbia, S.; Dimulescu, M.; Rifaat, M.; Duneau, G.; Legrand, D.; Georges, E.; Seret, G.; Babinet, F.; Lanoiselee, S.; Savoiu, C.; Testa, A.; Oancea, I.; Coupel, I.; Parahy, S.; Lefrancois, G.; Briand, E.; Bugnon, D.; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boustred, Christopher R.; Brittain, Helen; Chan, Georgia C.; Fowler, Tom; Giess, Adam; Hamblin, Angela; Hubbard, Tim J.P.; Jackson, Rob; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Murugaesu, Nirupa; O’Donovan, Peter; Odhams, Chris A.; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thompson, Simon R.; Welland, Matthew J.; Williams, Eleanor; Boardman-Pretty, Freya; Moutsianas, Loukas; Mueller, Michael; Caulfield, Mark J.; Elgar, Greg; Henderson, Shirley; Jones, Louise J.; Kasperaviciute, Dalia; Need, Anna C.; Patch, Christine; Sosinsky, Alona; Thomas, Ellen R.A.; Tucci, Arianna; Witkowska, Katarzyna; Wood, Suzanne M.

American Journal of Kidney Diseases. 85(4):465-476

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Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

Academic Journal

Schönauer, Ria; Sierks, Dana; Boerrigter, Melissa; Jawaid, Tabinda; Caroff, Lea; Audrezet, Marie-Pierre; Friedrich, Anja; Shaw, Melissa; Degenhardt, Jan; Forberger, Mirjam; de Fallois, Jonathan; Bläker, Hendrik; Bergmann, Carsten; Gödiker, Juliana; Schindler, Philipp; Schlevogt, Bernhard; Müller, Roman-U.; Berg, Thomas; Patterson, Ilse; Griffiths, William J.; Sayer, John A.; Popp, Bernt; Torres, Vicente E.; Hogan, Marie C.; Somlo, Stefan; Watnick, Terry J.; Nevens, Frederik; Besse, Whitney; Cornec-Le Gall, Emilie; Harris, Peter C.; Drenth, Joost P.H.; Halbritter, Jan; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.

Gastroenterology. 166(5):902-914

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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Academic Journal

Ambrose, John C. ; Arumugam, Prabhu ; Bevers, Roel ; Bleda, Marta ; Boardman-Pretty, Freya ; Boustred, Christopher R. ; Brittain, Helen ; Caulfield, Mark J. ; Chan, Georgia C. ; Elgar, Greg ; Fowler, Tom ; Giess, Adam ; Hamblin, Angela ; Henderson, Shirley ; Hubbard, Tim J.P. ; Jackson, Rob ; Jones, Louise J. ; Kasperaviciute, Dalia ; Kayikci, Melis ; Kousathanas, Athanasios ; Lahnstein, Lea ; Leigh, Sarah E.A. ; Leong, Ivonne U.S. ; Lopez, Javier F. ; Maleady-Crowe, Fiona ; McEntagart, Meriel ; Minneci, Federico ; Moutsianas, Loukas ; Mueller, Michael ; Murugaesu, Nirupa ; Need, Anna C. ; O’Donovan, Peter ; Odhams, Chris A. ; Patch, Christine ; Pereira, Mariana Buongermino ; Perez-Gil, Daniel ; Pullinger, John ; Rahim, Tahrima ; Rendon, Augusto ; Rogers, Tim ; Savage, Kevin ; Sawant, Kushmita ; Scott, Richard H. ; Siddiq, Afshan ; Sieghart, Alexander ; Smith, Samuel C. ; Sosinsky, Alona ; Stuckey, Alexander ; Tanguy, Mélanie ; Taylor Tavares, Ana Lisa ; Thomas, Ellen R.A. ; Thompson, Simon R. ; Tucci, Arianna ; Welland, Matthew J. ; Williams, Eleanor ; Witkowska, Katarzyna ; Wood, Suzanne M. ; Claus, Laura R. ; Chen, Chuan ; Stallworth, Jennifer ; Turner, Joshua L. ; Slaats, Gisela G. ; Hawks, Alexandra L. ; Mabillard, Holly ; Senum, Sarah R. ; Srikanth, Sujata ; Flanagan-Steet, Heather ; Louie, Raymond J. ; Silver, Josh ; Lerner-Ellis, Jordan ; Morel, Chantal ; Mighton, Chloe ; Sleutels, Frank ; van Slegtenhorst, Marjon ; van Ham, Tjakko ; Brooks, Alice S. ; Dorresteijn, Eiske M. ; Barakat, Tahsin Stefan ; Dahan, Karin ; Demoulin, Nathalie ; Goffin, Eric Jean ; Olinger, Eric ; Larsen, Martin ; Hertz, Jens Michael ; Lilien, Marc R. ; Obeidová, Lena ; Seeman, Tomas ; Stone, Hillarey K. ; Kerecuk, Larissa ; Gurgu, Mihai ; Yousef Yengej, Fjodor A. ; Ammerlaan, Carola M.E. ; Rookmaaker, Maarten B. ; Hanna, Christian ; Rogers, R. Curtis ; Duran, Karen ; Peters, Edith ; Sayer, John A. ; van Haaften, Gijs ; Harris, Peter C. ; Ling, Kun ; Mason, Jennifer M. ; van Eerde, Albertien M. ; Steet, Richard

In Kidney International November 2023 104(5):995-1007

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Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

Academic Journal

Ambrose, John C. ; Arumugam, Prabhu ; Bevers, Roel ; Bleda, Marta ; Boardman-Pretty, Freya ; Boustred, Christopher R. ; Brittain, Helen ; Caulfield, Mark J. ; Chan, Georgia C. ; Elgar, Greg ; Fowler, Tom ; Giess, Adam ; Hamblin, Angela ; Henderson, Shirley ; Hubbard, Tim J.P. ; Jackson, Rob ; Jones, Louise J. ; Kasperaviciute, Dalia ; Kayikci, Melis ; Kousathanas, Athanasios ; Lahnstein, Lea ; Leigh, Sarah E.A. ; Leong, Ivonne U.S. ; Lopez, Javier F. ; Maleady-Crowe, Fiona ; McEntagart, Meriel ; Minneci, Federico ; Moutsianas, Loukas ; Mueller, Michael ; Murugaesu, Nirupa ; Need, Anna C. ; O’Donovan, Peter ; Odhams, Chris A. ; Patch, Christine ; Pereira, Mariana Buongermino ; PerezGil, Daniel ; Pullinger, John ; Rahim, Tahrima ; Rendon, Augusto ; Rogers, Tim ; Savage, Kevin ; Sawant, Kushmita ; Scott, Richard H. ; Siddiq, Afshan ; Sieghart, Alexander ; Smith, Samuel C. ; Sosinsky, Alona ; Stuckey, Alexander ; Tanguy, Mélanie ; Taylor Tavares, Ana Lisa ; Thomas, Ellen R.A. ; Thompson, Simon R. ; Tucci, Arianna ; Welland, Matthew J. ; Williams, Eleanor ; Witkowska, Katarzyna ; Wood, Suzanne M. ; Sadeghi-Alavijeh, Omid ; Chan, Melanie M.Y. ; Moochhala, Shabbir H. ; Howles, Sarah ; Gale, Daniel P. ; Böckenhauer, Detlef

In Kidney International November 2023 104(5):975-984

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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Academic Journal

Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa ; Pelorosso, Cristiana ; Balestrini, Simona ; Masi, Alessio ; Hambleton, Sophie ; Argilli, Emanuela ; Conti, Valerio ; Giubbolini, Simone ; Barrick, Rebekah ; Bergant, Gaber ; Writzl, Karin ; Bijlsma, Emilia K. ; Brunet, Theresa ; Cacheiro, Pilar ; Mei, Davide ; Devlin, Anita ; Hoffer, Mariëtte J.V. ; Machol, Keren ; Mannaioni, Guido ; Sakamoto, Masamune ; Menezes, Manoj P. ; Courtin, Thomas ; Sherr, Elliott ; Parra, Riccardo ; Richardson, Ruth ; Roscioli, Tony ; Scala, Marcello ; von Stülpnagel, Celina ; Smedley, Damian ; Torella, Annalaura ; Tohyama, Jun ; Hamada, Keisuke ; Ogata, Kazuhiro ; Suzuki, Takashi ; Sugie, Atsushi ; van der Smagt, Jasper J. ; van Gassen, Koen ; Valence, Stephanie ; Vittery, Emma ; Malone, Stephen ; Kato, Mitsuhiro ; Matsumoto, Naomichi ; Ratto, Gian Michele ; Guerrini, Renzo

In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376

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Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

Academic Journal

Ingram, Stuart; Taylor, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Pontikos, Nikolas; Cheetham, Michael; Fiorentino, Alessia; Downes, Susan; Yu, Jing; Halford, Stephanie; Broadgate, Suzanne; van Heyningen, Veronica; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Yahya, Samar ; Smith, Claire E.L. ; Poulter, James A. ; McKibbin, Martin ; Arno, Gavin ; Ellingford, Jamie ; Kämpjärvi, Kati ; Khan, Muhammad I. ; Cremers, Frans P.M. ; Hardcastle, Alison J. ; Castle, Bruce ; Steel, David H.W. ; Webster, Andrew R. ; Black, Graeme C. ; El-Asrag, Mohammed E. ; Ali, Manir ; Toomes, Carmel ; Inglehearn, Chris F.

In Ophthalmology January 2023 130(1):68-76

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Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

Academic Journal

Olinger, Eric; Wilson, Ian J.; Orr, Sarah; Barroso-Gil, Miguel; Neatu, Ruxandra; Atan, Denize; Sayer, John A.; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.

Genetics in Medicine Open. 2

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study: a retrospective diagnostic accuracy and prospective clinical validation study

Academic Journal

Kristina Ibañez; James Polke; R Tanner Hagelstrom; Egor Dolzhenko; Dorota Pasko; Ellen Rachel Amy Thomas; Louise C Daugherty; Dalia Kasperaviciute; Katherine R Smith; Ellen M McDonagh; Antonio Rueda; Dimitris Polychronopoulos; Georgia Chan; Heather Angus-Leppan; Kailash P Bhatia; James E Davison; Richard Festenstein; Pietro Fratta; Paola Giunti; Robin Howard; Laxmi Venkata; Matilde Laurá; Meriel McEntagart; Lara Menzies; Huw Morris; Mary M Reilly; Robert Robinson; Elisabeth Rosser; Francesca Faravelli; Anette Schrag; Jonathan M Schott; Thomas T Warner; Nicholas W Wood; David Bourn; Kelly Eggleton; Robyn Labrum; Philip Twiss; Stephen Abbs; Liana Santos; Ghareesa Almheiri; Isabella Sheikh; Jana Vandrovcova; Christine Patch; Ana Lisa Taylor Tavares; Zerin Hyder; Anna Need; Helen Brittain; Emma Baple; Loukas Moutsianas; Viraj Deshpande; Denise L Perry; Subramanian S. Ajay; Aditi Chawla; Vani Rajan; Kathryn Oprych; Patrick F Chinnery; Angela Douglas; Gill Wilson; Sian Ellard; I Karen Temple; Andrew Mumford; Dom McMullan; Kikkeri Naresh; Frances A Flinter; Jenny C Taylor; Lynn Greenhalgh; William Newman; Paul Brennan; John A Sayer; F Lucy Raymond; Lyn S Chitty; Zandra C Deans; Sue Hill; Tom Fowler; Richard H Scott; John Hardy; Henry Houlden; Augusto Rendon; Mark J Caulfield; Michael A Eberle; Ryan J Taft; Arianna Tucci; John C. Ambrose; Prabhu Arumugam; Marta Bleda; Freya Boardman-Pretty; Jeanne M. Boissiere; Christopher R. Boustred; Clare E.H. Craig; Anna de Burca; Andrew Devereau; Greg Elgar; Rebecca E. Foulger; Pedro Furió-Tarí; Joanne Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James Holman; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Melis Kayikci; Lea Lahnstein; Kay Lawson; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Joanne Mason; Michael Mueller; Nirupa Murugaesu; Chris A. Odhams; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Alona Sosinsky; William Spooner; Helen E. Stevens; Alexander Stuckey; Razvan Sultana; Simon R. Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A. Watters; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Magdalena Zarowiecki

Lancet Neurol
WGS for Neurological Diseases Group 2022, ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ', The Lancet. Neurology, vol. 21, no. 3, pp. 234-245 . https://doi.org/10.1016/S1474-4422(21)00462-2

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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Academic Journal

Zerin Hyder; Eduardo Calpena; Yang Pei; Rebecca S. Tooze; Helen Brittain; Stephen R.F. Twigg; Deirdre Cilliers; Jenny E.V. Morton; Emma McCann; Astrid Weber; Louise C. Wilson; Andrew G.L. Douglas; Ruth McGowan; Anna Need; Andrew Bond; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Christopher R. Boustred; Georgia C. Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Peter O’Donovan; Chris A. Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Susan L. Hill; Zandra C. Deans; Freya Boardman-Pretty; Mark Caulfield; Richard H. Scott; Andrew O.M. Wilkie

Genet Med

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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Academic Journal

Nickerson, Deborah; Bamshad, Michael; Leal, Suzanne; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; FionaMaleady-Crowe; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; TahrimaRahim; Rendon, Augusto; TimRogers; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Al-Jawahiri, Reem ; Foroutan, Aidin ; Kerkhof, Jennifer ; McConkey, Haley ; Levy, Michael ; Haghshenas, Sadegheh ; Rooney, Kathleen ; Turner, Jasmin ; Shears, Debbie ; Holder, Muriel ; Lefroy, Henrietta ; Castle, Bruce ; Reis, Linda M. ; Semina, Elena V. ; Lachlan, Katherine ; Chandler, Kate ; Wright, Thomas ; Clayton-Smith, Jill ; Hug, Franziska Phan ; Pitteloud, Nelly ; Bartoloni, Lucia ; Hoffjan, Sabine ; Park, Soo-Mi ; Thankamony, Ajay ; Lees, Melissa ; Wakeling, Emma ; Naik, Swati ; Hanker, Britta ; Girisha, Katta M. ; Agolini, Emanuele ; Giuseppe, Zampino ; Alban, Ziegler ; Tessarech, Marine ; Keren, Boris ; Afenjar, Alexandra ; Zweier, Christiane ; Reis, Andre ; Smol, Thomas ; Tsurusaki, Yoshinori ; Nobuhiko, Okamoto ; Sekiguchi, Futoshi ; Tsuchida, Naomi ; Matsumoto, Naomichi ; Kou, Ikuyo ; Yonezawa, Yoshiro ; Ikegawa, Shiro ; Callewaert, Bert ; Freeth, Megan ; Kleinendorst, Lotte ; Donaldson, Alan ; Alders, Marielle ; De Paepe, Anne ; Sadikovic, Bekim ; McNeill, Alisdair

In Genetics in Medicine June 2022 24(6):1261-1273

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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Academic Journal

Adeleye, Adelani; Alba, Camille; Bacikova, Dagmar; Hupalo, Daniel N.; Martinez, Elisa McGrath; Pollard, Harvey B.; Sukumar, Gauthaman; Soltis, Anthony R.; Tuck, Meila; Zhang, Xijun; Wilkerson, Matthew D.; Smith, Bradley N.; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon D.; Kost, Jason; Scotter, Emma L.; Kenna, Kevin P.; Miller, Jack W.; Tiloca, Cinzia; Vance, Caroline; Danielson, Eric W.; Troakes, Claire; Colombrita, Claudia; Al-Sarraj, Safa; Lewis, Elizabeth A.; King, Andrew; Calini, Daniela; Pensato, Viviana; Castellotti, Barbara; de Belleroche, Jacqueline; Baas, Frank; ten Asbroek, Anneloor L.M.A.; Sapp, Peter C.; McKenna-Yasek, Diane; McLaughlin, Russell L.; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Muñoz-Blanco, José Luis; Stevic, Zorica; D’Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; van Rheenen, Wouter; Diekstra, Frank P.; Rademakers, Rosa; van Blitterswijk, Marka; Boylan, Kevin B.; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Williams, Kelly L.; Nicholson, Garth A.; Blair, Ian P.; Leblond-Manry, Claire; Rouleau, Guy A.; Hardiman, Orla; Morrison, Karen E.; Veldink, Jan H.; van den Berg, Leonard H.; Al-Chalabi, Ammar; Pall, Hardev; Shaw, Pamela J.; Turner, Martin R.; Talbot, Kevin; Taroni, Franco; García-Redondo, Alberto; Wu, Zheyang; Gellera, Cinzia; Ratti, Antonia; Brown, Robert H., Jr.; Shaw, Christopher E.; Ambrose, John C.; Arumugam, Prabhu; Baple, Emma L.; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M.; Boustred, Christopher R.; Brittain, H.; Caulfield, Mark J.; Chan, Georgia C.; Craig, Clare E.H.; Daugherty, Louise C.; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E.; Fowler, Tom; Furió-Tarí, Pedro; Hackett, Joanne M.; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James E.; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; Mason, Joanne; McDonagh, Ellen M.; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Polychronopoulos, Dimitris; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Riesgo-Ferreiro, Pablo; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Smith, Katherine R.; Sosinsky, Alona; Spooner, William; Stevens, Helen E.; Stuckey, Alexander; Sultana, Razvan; Thomas, Ellen R.A.; Thompson, Simon R.; Tregidgo, Carolyn; Walsh, Emma; Watters, Sarah A.; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Arepalli, Sampath; Auluck, Pavan; Baloh, Robert H.; Bowser, Robert; Brice, Alexis; Broach, James; Camu, William; Chiò, Adriano; Cooper-Knock, John; Corcia, Philippe; Drepper, Carsten; Drory, Vivian E.; Dunckley, Travis L.; Faghri, Faraz; Farren, Jennifer; Feldman, Eva; Floeter, Mary Kay; Fratta, Pietro; Gerhard, Glenn; Gibson, Summer B.; Goutman, Stephen A.; Heiman-Patterson, Terry D.; Hernandez, Dena G.; Hoover, Ben; Jansson, Lilja; Kamel, Freya; Kirby, Janine; Kowall, Neil W.; Laaksovirta, Hannu; Landi, Francesco; Le Ber, Isabelle; Lumbroso, Serge; MacGowan, Daniel JL.; Maragakis, Nicholas J.; Mora, Gabriele; Mouzat, Kevin; Myllykangas, Liisa; Nalls, Mike A.; Orrell, Richard W.; Ostrow, Lyle W.; Pamphlett, Roger; Pioro, Erik; Pulst, Stefan M.; Ravits, John M.; Renton, Alan E.; Robberecht, Wim; Robey, Ian; Rogaeva, Ekaterina; Rothstein, Jeffrey D.; Sendtner, Michael; Sidle, Katie C.; Simmons, Zachary; Stone, David J.; Tienari, Pentti J.; Trojanowski, John Q.; Troncoso, Juan C.; Valori, Miko; Van Damme, Philip; Van Den Bosch, Ludo; Zinman, Lorne; Albani, Diego; Borroni, Barbara; Padovani, Alessandro; Bruni, Amalia; Clarimon, Jordi; Dols-Icardo, Oriol; Illán-Gala, Ignacio; Lleó, Alberto; Danek, Adrian; Galimberti, Daniela; Scarpini, Elio; Serpente, Maria; Graff, Caroline; Chiang, Huei-Hsin; Khoshnood, Behzad; Öijerstedt, Linn; Morris, Christopher M.; Nacmias, Benedetta; Sorbi, Sandro; Nielsen, Jorgen E.; Hjermind, Lynne E.; Novelli, Valeria; Puca, Annibale A.; Pastor, Pau; Alvarez, Ignacio; Diez-Fairen, Monica; Aguilar, Miquel; Perneczky, Robert; Diehl-Schimd, Janine; Rossi, Mina; Ruiz, Agustin; Boada, Mercè; Hernández, Isabel; Moreno-Grau, Sonia; Schlachetzki, Johannes C.; Aarsland, Dag; Albert, Marilyn S.; Attems, Johannes; Barrett, Matthew J.; Beach, Thomas G.; Bekris, Lynn M.; Bennett, David A.; Besser, Lilah M.; Bigio, Eileen H.; Black, Sandra E.; Boeve, Bradley F.; Bohannan, Ryan C.; Brett, Francesca; Brunetti, Maura; Caraway, Chad A.; Palma, Jose-Alberto; Calvo, Andrea; Canosa, Antonio; Dickson, Dennis; Duyckaerts, Charles; Faber, Kelley; Ferman, Tanis; Flanagan, Margaret E.; Floris, Gianluca; Foroud, Tatiana M.; Fortea, Juan; Gan-Or, Ziv; Gentleman, Steve; Ghetti, Bernardino; Gibbs, Jesse Raphael; Goate, Alison; Goldstein, David; González-Aramburu, Isabel; Graff-Radford, Neill R.; Hodges, Angela K.; Hu, Heng-Chen; Hupalo, Daniel; Infante, Jon; Iranzo, Alex; Kaiser, Scott M.; Kaufmann, Horacio; Keith, Julia; Kim, Ronald C.; Klein, Gregory; Krüger, Rejko; Kukull, Walter; Kuzma, Amanda; Lage, Carmen; Lesage, Suzanne; Leverenz, James B.; Logroscino, Giancarlo; Lopez, Grisel; Love, Seth; Mao, Qinwen; Marti, Maria Jose; Martinez-McGrath, Elisa; Masellis, Mario; Masliah, Eliezer; May, Patrick; McKeith, Ian; Mesulam, Marek-Marsel; Monuki, Edwin S.; Newell, Kathy L.; Norcliffe-Kaufmann, Lucy; Palmer, Laura; Perkins, Matthew; Pletnikova, Olga; Molina-Porcel, Laura; Reynolds, Regina H.; Rodríguez-Rodríguez, Eloy; Rohrer, Jonathan D.; Sanchez-Juan, Pascual; Scherzer, Clemens R.; Serrano, Geidy E.; Shakkottai, Vikram; Sidransky, Ellen; Tayebi, Nahid; Thomas, Alan J.; Tilley, Bension S.; Walton, Ronald L.; Woltjer, Randy; Wszolek, Zbigniew K.; Xiromerisiou, Georgia; Zecca, Chiara; Phatnani, Hemali; Kwan, Justin; Sareen, Dhruv; Broach, James R.; Arcila-Londono, Ximena; Lee, Edward B.; Shneider, Neil A.; Fraenkel, Ernest; Zaitlen, Noah; Berry, James D.; Malaspina, Andrea; Cox, Gregory A.; Thompson, Leslie M.; Finkbeiner, Steve; Dardiotis, Efthimios; Miller, Timothy M.; Chandran, Siddharthan; Pal, Suvankar; Hornstein, Eran; MacGowan, Daniel J.; Heiman-Patterson, Terry; Hammell, Molly G.; Patsopoulos, Nikolaos.A.; Butovsky, Oleg; Dubnau, Joshua; Nath, Avindra; Harms, Matt; Aronica, Eleonora; Poss, Mary; Phillips-Cremins, Jennifer; Crary, John; Atassi, Nazem; Lange, Dale J.; Adams, Darius J.; Stefanis, Leonidas; Gotkine, Marc; Babu, Suma; Raj, Towfique; Paganoni, Sabrina; Shalem, Ophir; Smith, Colin; Zhang, Bin; Harris, Brent; Broce, Iris; Drory, Vivian; Ravits, John; McMillan, Corey; Menon, Vilas; Wu, Lani; Altschuler, Steven; Amar, Khaled; Archibald, Neil; Bandmann, Oliver; Capps, Erica; Church, Alistair; Coebergh, Jan; Costantini, Alyssa; Critchley, Peter; Ghosh, Boyd CP.; Hu, Michele T.M.; Kobylecki, Christopher; Leigh, P. Nigel; Mann, Carl; Massey, Luke A.; Morris, Huw R.; Nath, Uma; Pavese, Nicola; Paviour, Dominic; Sharma, Jagdish; Vaughan, Jenny; Dewan, Ramita ; Chia, Ruth ; Ding, Jinhui ; Hickman, Richard A. ; Stein, Thor D. ; Abramzon, Yevgeniya ; Ahmed, Sarah ; Sabir, Marya S. ; Portley, Makayla K. ; Tucci, Arianna ; Ibáñez, Kristina ; Shankaracharya, F.N.U. ; Keagle, Pamela ; Rossi, Giacomina ; Caroppo, Paola ; Tagliavini, Fabrizio ; Waldo, Maria L. ; Johansson, Per M. ; Nilsson, Christer F. ; Rowe, James B. ; Benussi, Luisa ; Binetti, Giuliano ; Ghidoni, Roberta ; Jabbari, Edwin ; Viollet, Coralie ; Glass, Jonathan D. ; Singleton, Andrew B. ; Silani, Vincenzo ; Ross, Owen A. ; Ryten, Mina ; Torkamani, Ali ; Tanaka, Toshiko ; Ferrucci, Luigi ; Resnick, Susan M. ; Pickering-Brown, Stuart ; Brady, Christopher B. ; Kowal, Neil ; Hardy, John A. ; Van Deerlin, Vivianna ; Vonsattel, Jean Paul ; Harms, Matthew B. ; Ferrari, Raffaele ; Landers, John E. ; Gibbs, J. Raphael ; Dalgard, Clifton L. ; Scholz, Sonja W. ; Traynor, Bryan J.

In Neuron 3 February 2021 109(3):448-460

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Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Academic Journal

Helena Martins Custodio; Lisa M Clayton; Ravishankara Bellampalli; Susanna Pagni; Katri Silvennoinen; Richard Caswell; John C Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R Boustred; Helen Brittain; Matthew A Brown; Mark J Caulfield; Georgia C Chan; Adam Giess; John N Griffin; Angela Hamblin; Shirley Henderson; Tim J P Hubbard; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Anna Lakey; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Jonathan Mitchell; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C Need; Peter O'Donovan; Chris A Odhams; Christine Patch; Daniel Perez-Gil; Marina B Pereira; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Samuel C Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R A Thomas; Simon R Thompson; Arianna Tucci; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Andreas Brunklaus; Renzo Guerrini; Bobby P C Koeleman; Johannes R Lemke; Rikke S Møller; Ingrid E Scheffer; Sarah Weckhuysen; Federico Zara; Sameer Zuberi; Karoline Kuchenbaecker; Simona Balestrini; James D Mills; Sanjay M Sisodiya

Brain

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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

Academic Journal

Matteo Zanovello; Kristina Ibáñez; Anna-Leigh Brown; Prasanth Sivakumar; Alessandro Bombaci; Liana Santos; Joke J F A van Vugt; Giuseppe Narzisi; Ramita Karra; Sonja W Scholz; Jinhui Ding; J Raphael Gibbs; Adriano Chiò; Clifton Dalgard; Ben Weisburd; John C Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R Boustred; Helen Brittain; Mark J Caulfield; Georgia C Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J P Hubbard; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C Need; Peter O’Donovan; Chris A Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Samuel C Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R A Thomas; Simon R Thompson; Arianna Tucci; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Wouter Van Rheenen; Sara L Pulit; Annelot M Dekker; Ahmad Al Khleifat; William J Brands; Alfredo Iacoangeli; Kevin P Kenna; Ersen Kavak; Maarten Kooyman; Russell L McLaughlin; Bas Middelkoop; Matthieu Moisse; Raymond D Schellevis; Aleksey Shatunov; William Sproviero; Gijs H P Tazelaar; Rick A A Van der Spek; Perry T C Van Doormaal; Kristel R Van Eijk; Joke Van Vugt; A Nazli Basak; Ian P Blair; Jonathan D Glass; Orla Hardiman; Winston Hide; John E Landers; Jesus S Mora; Karen E Morrison; Stephen Newhouse; Wim Robberecht; Christopher E Shaw; Pamela J Shaw; Philip Van Damme; Michael A Van Es; Naomi R Wray; Ammar Al-Chalabi; Leonard H Van den Berg; Jan H Veldink; Michael G Hanna; Linda Greensmith; Hemali Phatnani; Bryan J Traynor; James Polke; Henry Houlden; Pietro Fratta

Brain
Zanovello, M, Ibáñez, K, Brown, A-L, Sivakumar, P, Bombaci, A, Santos, L, van Vugt, J J F A, Narzisi, G, Karra, R, Scholz, S W, Ding, J, Gibbs, J R, Chiò, A, Dalgard, C, Weisburd, B, Hanna, M G, Greensmith, L, Phatnani, H, Veldink, J H, Traynor, B J, Polke, J, Houlden, H, Fratta, P, Tucci, A, Morrison, K, The American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium & The NYGC ALS Consortium 2023, 'Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population', Brain, vol. 146, no. 7, pp. 2723-2729. https://doi.org/10.1093/brain/awad050

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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

Academic Journal

Zhongbo Chen; Arianna Tucci; Valentina Cipriani; Emil K Gustavsson; Kristina Ibañez; Regina H Reynolds; David Zhang; Letizia Vestito; Alejandro Cisterna García; Siddharth Sethi; Jonathan W Brenton; Sonia García-Ruiz; Aine Fairbrother-Browne; Ana-Luisa Gil-Martinez; John C Ambrose; Prabhu Arumugam; Marta Bleda; Freya Boardman-Pretty; Jeanne M Boissiere; Christopher R Boustred; Clare E H Craig; Anna de Burca; Andrew Devereau; Greg Elgar; Rebecca E Foulger; Pedro Furió-Tarí; Joanne Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James Holman; Tim J P Hubbard; Rob Jackson; Louise J Jones; Melis Kayikci; Lea Lahnstein; Kay Lawson; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Joanne Mason; Michael Mueller; Nirupa Murugaesu; Chris A Odhams; Daniel Perez-Gil; Dimitris Polychronopoulos; John Pullinger; Tahrima Rahim; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Alona Sosinsky; William Spooner; Helen E Stevens; Alexander Stuckey; Razvan Sultana; Simon R Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A Watters; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Nick Wood; John A Hardy; Henry Houlden; Juan Botía

Brain

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Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Academic Journal

Martin A. M. Reijns; David A. Parry; Thomas C. Williams; Ferran Nadeu; Rebecca L. Hindshaw; Diana O. Rios Szwed; Michael D. Nicholson; Paula Carroll; Shelagh Boyle; Romina Royo; Alex J. Cornish; Hang Xiang; Kate Ridout; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Mark J. Caulfield; Georgia C. Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J. P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E. A. Leigh; Ivonne U. S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R. A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Daniel Chubb; Alex Cornish; Ben Kinnersley; Richard Houlston; David Wedge; Andreas Gruber; Anna Frangou; William Cross; Trevor Graham; Andrea Sottoriva; Gulio Caravagna; Nuria Lopez-Bigas; Claudia Arnedo-Pac; David Church; Richard Culliford; Steve Thorn; Phil Quirke; Henry Wood; Ian Tomlinson; Boris Noyvert; Anna Schuh; Konrad Aden; Claire Palles; Elias Campo; Tatjana Stankovic; Martin S. Taylor; Andrew P. Jackson

Nature
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Reijns, M A M, Parry, D A, Williams, T C, Nadeu, F, Hindshaw, R L, Rios Szwed, D O, Nicholson, M D, Carroll, P, Boyle, S, Royo, R, Cornish, A J, Xiang, H, Ridout, K, Schuh, A, Aden, K, Palles, C, Campo, E & Stankovic, T & Taylor, M S & Jackson, A P 2022, ' Signatures of TOP1 transcription-associated mutagenesis in cancer and germline ', Nature, vol. 602, pp. 623-631 . https://doi.org/10.1038/s41586-022-04403-y

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Academic Journal

Alistair T Pagnamenta; Rauan Kaiyrzhanov; Yaqun Zou; Sahar I Da'as; Reza Maroofian; Sandra Donkervoort; Natalia Dominik; Marlen Lauffer; Matteo P Ferla; Andrea Orioli; Adam Giess; Arianna Tucci; Christian Beetz; Maryam Sedghi; Behnaz Ansari; Rita Barresi; Keivan Basiri; Andrea Cortese; Greg Elgar; Miguel A Fernandez-Garcia; Janice Yip; A Reghan Foley; Nicholas Gutowski; Heinz Jungbluth; Saskia Lassche; Tim Lavin; Carlo Marcelis; Peter Marks; Chiara Marini-Bettolo; Livija Medne; Ali-Reza Moslemi; Anna Sarkozy; Mary M Reilly; Francesco Muntoni; Francisca Millan; Colleen C Muraresku; Anna C Need; Andrea H Nemeth; Sarah B Neuhaus; Fiona Norwood; Marie O'Donnell; Mary O’Driscoll; Julia Rankin; Sabrina W Yum; Zarazuela Zolkipli-Cunningham; Isabell Brusius; Gilbert Wunderlich; John C Ambrose; Prabhu Arumugam; Emma L Baple; Marta Bleda; Freya Boardman-Pretty; Jeanne M Boissiere; Christopher R Boustred; Helen Brittain; Mark J Caulfield; Georgia C Chan; Clare E H Craig; Louise C Daugherty; Anna de Burca; Andrew Devereau; Rebecca E Foulger; Tom Fowler; Pedro Furió-Tarí; Joanne M Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James E Holman; Tim J P Hubbard; Kristina ibáñez; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Kay Lawson; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Joanne Mason; Ellen M McDonagh; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Peter O’Donovan; Chris A Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; Dimitris Polychronopoulos; John Pullinger; Tahrima Rahim; Augusto Rendon; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Katherine R Smith; Samuel C Smith; Alona Sosinsky; William Spooner; Helen E Stevens; Alexander Stuckey; Razvan Sultana; Mélanie Tanguy; Ellen R A Thomas; Simon R Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A Watters; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Mert Karakaya; Brunhilde Wirth; Khalid A Fakhro; Homa Tajsharghi; Carsten G Bönnemann; Jenny C Taylor; Henry Houlden

Brain
Brain, 144, 2, pp. 584-600

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Mendelian gene identification through mouse embryo viability screening

Academic Journal

Pilar Cacheiro; Carl Henrik Westerberg; Jesse Mager; Mary E. Dickinson; Lauryl M. J. Nutter; Violeta Muñoz-Fuentes; Chih-Wei Hsu; Ignatia B. Van den Veyver; Ann M. Flenniken; Colin McKerlie; Stephen A. Murray; Lydia Teboul; Jason D. Heaney; K. C. Kent Lloyd; Louise Lanoue; Robert E. Braun; Jacqueline K. White; Amie K. Creighton; Valerie Laurin; Ruolin Guo; Dawei Qu; Sara Wells; James Cleak; Rosie Bunton-Stasyshyn; Michelle Stewart; Jackie Harrisson; Jeremy Mason; Hamed Haseli Mashhadi; Helen Parkinson; Ann-Marie Mallon; John R. Seavitt; Angelina Gaspero; Uche Akoma; Audrey Christiansen; Sowmya Kalaga; Lance C. Keith; Melissa L. McElwee; Leeyean Wong; Tara Rasmussen; Uma Ramamurthy; Kiran Rajaya; Panitee Charoenrattanaruk; Qing Fan-Lan; Lauri G. Lintott; Ozge Danisment; Patricia Castellanos-Penton; Daniel Archer; Sara Johnson; Zsombor Szoke-Kovacs; Kevin A. Peterson; Leslie O. Goodwin; Ian C. Welsh; Kristina J. Palmer; Alana Luzzio; Cynthia Carpenter; Coleen Kane; Jack Marcucci; Matthew McKay; Crystal Burke; Audrie Seluke; Rachel Urban; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Matthew A. Brown; Mark J. Caulfield; Georgia C. Chan; Greg Elgar; Adam Giess; John N. Griffin; Angela Hamblin; Shirley Henderson; Tim J. P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E. A. Leigh; Ivonne U. S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Jonathan Mitchell; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R. A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Magdalena Zarowiecki; Damian Smedley

Genome Med
Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)
Genome Medicine, vol 14, iss 1

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Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma

Academic Journal

Christine L. Jones; Andrea Degasperi; Vieri Grandi; Tauanne D. Amarante; John C. Ambrose; Prabhu Arumugam; Emma L. Baple; Marta Bleda; Freya Boardman-Pretty; Jeanne M. Boissiere; Christopher R. Boustred; Helen Brittain; Mark J. Caulfield; Georgia C. Chan; Clare E. H. Craig; Louise C. Daugherty; Anna de Burca; Andrew Devereau; Greg Elgar; Rebecca E. Foulger; Tom Fowler; Pedro Furió-Tarí; Adam Giess; Joanne M. Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James E. Holman; Tim J. P. Hubbard; Kristina Ibáñez; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Kay Lawson; Sarah E. A. Leigh; Ivonne U. S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Joanne Mason; Ellen M. McDonagh; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Andrea Orioli; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; Dimitris Polychronopoulos; John Pullinger; Tahrima Rahim; Augusto Rendon; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Katherine R. Smith; Samuel C. Smith; Alona Sosinsky; William Spooner; Helen E. Stevens; Alexander Stuckey; Razvan Sultana; Mélanie Tanguy; Ellen R. A. Thomas; Simon R. Thompson; Carolyn Tregidgo; Arianna Tucci; Emma Walsh; Sarah A. Watters; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Magdalena Zarowiecki; Tracey J. Mitchell; Serena Nik-Zainal; Sean J. Whittaker

Sci Rep
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)

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Publisher Correction: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Academic Journal

Martin A. M. Reijns; David A. Parry; Thomas C. Williams; Ferran Nadeu; Rebecca L. Hindshaw; Diana O. Rios Szwed; Michael D. Nicholson; Paula Carroll; Shelagh Boyle; Romina Royo; Alex J. Cornish; Hang Xiang; Kate Ridout; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Mark J. Caulfield; Georgia C. Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J. P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E. A. Leigh; Ivonne U. S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R. A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Daniel Chubb; Alex Cornish; Ben Kinnersley; Richard Houlston; David Wedge; Andreas Gruber; Anna Frangou; William Cross; Trevor Graham; Andrea Sottoriva; Gulio Caravagna; Nuria Lopez-Bigas; Claudia Arnedo-Pac; David Church; Richard Culliford; Steve Thorn; Phil Quirke; Henry Wood; Ian Tomlinson; Boris Noyvert; Anna Schuh; Konrad Aden; Claire Palles; Elias Campo; Tatjana Stankovic; Martin S. Taylor; Andrew P. Jackson

Nature

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A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Academic Journal

Zou, Xueqing; Koh, Gene Ching Chiek; Nanda, Arjun Scott; Degasperi, Andrea; Urgo, Katie; Roumeliotis, Theodoros I.; Agu, Chukwuma A.; Badja, Cherif; Momen, Sophie; Young, Jamie; Amarante, Tauanne Dias; Side, Lucy; Brice, Glen; Perez-Alonso, Vanesa; Rueda, Daniel; Gomez, Celine; Bushell, Wendy; Harris, Rebecca; Choudhary, Jyoti S.; Ambrose, John C.; Arumugam, Prabhu; Baple, Emma L.; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M.; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Craig, Clare E. H.; Daugherty, Louise C.; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E.; Fowler, Tom; Furio-Tari, Pedro; Giess, Adam; Hackett, Joanne M.; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James E.; Hubbard, Tim J. P.; Ibanez, Kristina; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E. A.; Leong, Ivonne U. S.; Lopez, Javier F.; Maleady-Crowe, Fiona; Mason, Joanne; McDonagh, Ellen M.; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O'Donovan, Pter; Odhams, Chris A.; Orioli, Andrea; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Polychronopoulos, Dimitris; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Riesgo-Ferreiro, Pablo; Rogers, Tim; Ryten, Mina; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Smith, Katherine R.; Smith, Samuel C.; Sosinsky, Alona; Spooner, William; Stevens, Helen E.; Stuckey, Alexander; Sultana, Razvan; Tanguy, Melanie; Thomas, Ellen R. A.; Thompson, Simon R.; Tregidgo, Carolyn; Tucci, Arianna; Walsh, Emma; Watters, Sarah A.; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Jiricny, Josef; Skarnes, William C.; Nik-Zainal, Serena; Genomics England Res

NATURE CANCER; JUN 2021, 2 6, 31p.

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