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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. 分享 收藏
Population screening requires robust evidence-genomics is no exception 人口筛查需要强有力的证据-基因组学也不例外 Turnbull, Clare; Firth, Helen, V; Wilkie, Andrew O. M.; Newman, William; Raymond, F. Lucy; Tomlinson, Ian; Lachmann, Robin; Wright, Caroline F.; Wordsworth, Sarah; George, Angela; Mccartney, Margaret; Lucassen, Anneke 分享 收藏
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach 识别与智力障碍相关的基因组疾病的神经发育和精神病学特征: 机器学习方法 Donnelly, Nicholas; Cunningham, Adam; Salas, Sergio Marco; Bracher-Smith, Matthew; Chawner, Samuel; Stochl, Jan; Ford, Tamsin; Raymond, F. Lucy; Escott-Price, Valentina; van den Bree, Marianne B. M. 分享 收藏
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy Carapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J.; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F. Lucy; Rowitch, David H.; Solazzi, Roberta; Vercellino, Fabiana; De Liso, Paola; D'Onofrio, Gianluca; Boniver, Clementina; Danhaive, Olivier; Carkeek, Katherine; Salpietro, Vincenzo; Weckhuysen, Sarah; Fedrigo, Marny; Angelini, Annalisa; Castellotti, Barbara; Lederer, Damien; Benoit, Valerie; Raviglione, Federico; Guerrini, Renzo; Dilena, Robertino; Cilio, Maria Roberta 分享 收藏
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability WNK3中罕见的致病变异导致X连锁智力障碍 Kury, Sebastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M.; Josiah, Sunday S.; Kiziltug, Emre; Denomme-Pichon, Anne-Sophie; Cogne, Benjamin; Kundishora, Adam J.; Hao, Le T.; Li, Hong; Stevenson, Roger E.; Louie, Raymond J.; Deb, Wallid; Torti, Erin; Vignard, Virginie; McWalter, Kirsty; Raymond, F. Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie A.; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Ounap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M.; Barr, Eileen E.; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G.; Monaghan, Kristin G.; Rio, Marlene; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K.; Wilson, Ashley; Quinquis, Delphine; Breheret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine M.; Berger, Sara M.; Milla, Sarah S.; Jaykumar, Ankita B.; Cobb, Melanie H.; Panchagnula, Shreyas; Duy, Phan Q.; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Severine; Odent, Sylvie; Schmitt, Sebastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill A.; Friez, Michael J.; Perez-Pena, Helena; Rizvi, Syed Raza Akhtar; Haider, Shozeb; Antonarakis, Stylianos E.; Schwartz, Charles E.; Martinez, Francisco; Bezieau, Stephane; Kahle, Kristopher T.; Isidor, Bertrand 分享 收藏
Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study Wolstencroft, Jeanne; Wicks, Francesca; Srinivasan, Ramya; Wynn, Sarah; Ford, Tamsin; Baker, Kate; Chawner, Samuel J. R. A.; Hall, Jeremy; van den Bree, Marianne B. M.; Owen, Michael J.; Skuse, David; Raymond, F. Lucy 分享 收藏
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia Reid, Kimberley M.; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M.; Papandreou, Apostolos; Simpson, Michael A.; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik-Jan; Haack, Tobias B.; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R.; Scott, Richard H.; Vandenberg, Robert J.; Raymond, F. Lucy; Chong, Wui K.; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E.; Campeau, Philippe M.; Harvey, Robert J.; Kurian, Manju A. 分享 收藏
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood French, Courtney E.; Dolling, Helen; Megy, Karyn; Sanchis-Juan, Alba; Kumar, Ajay; Delon, Isabelle; Wakeling, Matthew; Mallin, Lucy; Agrawal, Shruti; Austin, Topun; Walston, Florence; Park, Soo-Mi; Parker, Alasdair; Piyasena, Chinthika; Bradbury, Kimberley; Ellard, Sian; Rowitch, David H.; Raymond, F. Lucy 分享 收藏
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul 分享 收藏
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance Jurkute, Neringa; D'Esposito, Fabiana; Robson, Anthony G.; Pitceathly, Robert D. S.; Cordeiro, Francesca; Raymond, F. Lucy; Moore, Anthony T.; Michaelides, Michel; Yu-Wai-Man, Patrick; Webster, Andrew R.; Arno, Gavin 分享 收藏
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature Jurkute, Neringa; Shanmugarajah, Priya D.; Hadjivassiliou, Marios; Higgs, Jenny; Vojcic, Miodrag; Horrocks, Iain; Nadjar, Yann; Touitou, Valerie; Lenaers, Guy; Poh, Roy; Acheson, James; Robson, Anthony G.; Raymond, F. Lucy; Reilly, Mary M.; Yu-Wai-Man, Patrick; Moore, Anthony T.; Webster, Andrew R.; Arno, Gavin 分享 收藏
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood Zagaglia, Sara; Steel, Dora; Krithika, S.; Hernandez-Hernandez, Laura; Custodio, Helena Martins; Gorman, Kathleen M.; Vezyroglou, Aikaterini; Moller, Rikke S.; King, Mary D.; Hammer, Trine Bjorg; Spaull, Robert; Fazeli, Walid; Bartolomaeus, Tobias; Doummar, Diane; Keren, Boris; Mignot, Cyril; Bednarek, Nathalie; Cross, J. Helen; Mallick, Andrew A.; Sanchis-Juan, Alba; Basu, Anna; Raymond, F. Lucy; Lynch, Bryan J.; Majumdar, Anirban; Stamberger, Hannah; Weckhuysen, Sarah; Sisodiya, Sanjay M.; Kurian, Manju A. 分享 收藏
Ceramide synthaseTLCD3Bis a novel gene associated with human recessive retinal dystrophy Bertrand, Renae Elaine; Wang, Jun; Xiong, Kaitlyn H.; Thangavel, Chinthana; Qian, Xinye; Ba-Abbad, Rola; Liang, Qingnan; Simoes, Renata T.; Sampaio, Shirley A. M.; Carss, Keren J.; Lucy Raymond, F.; Robson, Anthony G.; Webster, Andrew R.; Arno, Gavin; Porto, Fernanda Belga Ottoni; Chen, Rui 分享 收藏
The psychiatric phenotypes of 1q21 distal deletion and duplication Linden, Stefanie C.; Watson, Cameron J.; Smith, Jacqueline; Chawner, Samuel J. R. A.; Lancaster, Thomas M.; Evans, Ffion; Williams, Nigel; Skuse, David; Raymond, F. Lucy; Hall, Jeremy; Owen, Michael J.; Linden, David E. J.; Green-Snyder, LeeAnne; Chung, Wendy K.; Maillard, Anne M.; Jacquemont, Sebastien; van den Bree, Marianne B. M. 分享 收藏
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment Rodger, Catherine; Flex, Elisabetta; Allison, Rachel J.; Sanchis-Juan, Alba; Hasenahuer, Marcia A.; Cecchetti, Serena; French, Courtney E.; Edgar, James R.; Carpentieri, Giovanna; Ciolfi, Andrea; Pantaleoni, Francesca; Bruselles, Alessandro; Onesimo, Roberta; Zampino, Giuseppe; Marcon, Francesca; Siniscalchi, Ester; Lees, Melissa; Krishnakumar, Deepa; McCann, Emma; Yosifova, Dragana; Jarvis, Joanna; Kruer, Michael C.; Marks, Warren; Campbell, Jonathan; Allen, Louise E.; Gustincich, Stefano; Raymond, F. Lucy; Tartaglia, Marco; Reid, Evan 分享 收藏
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay Vissers, Lisenka E. L. M.; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L.; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E., V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J.; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G.; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; de Villemeur, Thierry Billette; Nugent, Kimberly; Raymond, F. Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika; Schwab, Jennifer; Keren, Boris; Charles, Perrine; Vreeburg, Maaike; De Simone, Lenika; Hoganson, George; Iascone, Maria; Milani, Donatella; Evenepoel, Lucie; Revencu, Nicole; Ward, D. Isum; Burns, Kaitlyn; Krantz, Ian; Raible, Sarah E.; Murrell, Jill R.; Wood, Kathleen; Cho, Megan T.; van Bokhoven, Hans; Muenke, Maximilian; Kleefstra, Tjitske; Bodmer, Rolf; de Brouwer, Arjan P. M. 分享 收藏
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DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia Ng, Joanne; Cortes-Saladelafont, Elisenda; Abela, Lucia; Termsarasab, Pichet; Mankad, Kshitij; Sudhakar, Sniya; Gorman, Kathleen M.; Heales, Simon J. R.; Pope, Simon; Biassoni, Lorenzo; Csanyi, Barbara; Cain, John; Rakshi, Karl; Coutts, Helen; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Deborah; Garcia-Cazorla, Angels; Grozeva, Detelina; Raymond, F. Lucy; Perez-Duenas, Belen; De Goede, Christian; Pearson, Toni S.; Meyer, Esther; Kurian, Manju A. 分享 收藏
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