未登录 Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms 组氨酸补充稳定听觉和视觉并改善HARS1相关常染色体隐性障碍中与 usher样症状相关的生长 Siu, Victoria Mok; Kenana, Rosan; Chakrabarti, Rana; Wilhelm, Sarah D. P.; Andrews, Joseph; Leat, Susan J.; Parker, Christina; Miller, Michael; Nangle, Leslie A.; McCaul, Wendy; Chowdhury, Ashfia; Hutchings, Natalie; Adams, Ryan A.; Guy, Lauren; Rhody, Mandy; Juncal, Verena; Mendes, Marisa I.; Smith, Desiree E. C.; Salomons, Gajja S.; Moresco, Angelica A.; McCulloch, Daphne L.; Morton, D. Holmes; Heinemann, Ilka U.; Rupar, C. Anthony 分享 收藏
Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth disease 抑制整合应激反应可恢复与Charcot-Marie-Tooth病相关的组氨酰-tRNA合成酶变体 Mahmood, Maria; Wilhelm, Sarah D. P.; Mendes, Marisa, I; Smith, Desiree E.; Kenana, Rosan; Hoffman, Kyle; Moresco, Angelica A.; Siu, Victoria Mok; Heinemann, Ilka U. 分享 收藏
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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study Hartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin 分享 收藏
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouve, Chloe; Amiel, Jeanne; Attie-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; Mcconkey, Haley; Michaud, Vincent; Nicolas, Gael; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlene; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylene; Mau-Them, Frederic Tran; Laan, Liselot van der; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kevin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Genevieve, David 分享 收藏
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; Levandoski, Kristin M.; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J.; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T.; Vogel, Marina; Abicht, Angela; Moutton, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H.; Keena, Beth A.; Skraban, Cara M.; Berger, Seth, I; Andrew, Erin H.; Rahimian, Elham; Morrow, Michelle M.; Wentzensen, Ingrid M.; Millan, Francisca; Henderson, Lindsay B.; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M.; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R.; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R.; Senderek, Jan; Christodoulou, John; Chung, Wendy K.; Goodchild, Rose; Offiah, Amaka C.; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza 分享 收藏
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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 遗传性神经发育障碍全基因组DNA甲基化谱的功能相关性 Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim 分享 收藏
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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Feb, 10.1038/s41436-020-01096-4, 2021) Sadikovic, Bekim; Levy, Michael A.; Kerkhof, Jennifer; Aref-Eshghi, Erfan; Schenkel, Laila; Stuart, Alan; McConkey, Haley; Henneman, Peter; Venema, Andrea; Schwartz, Charles E.; Stevenson, Roger E.; Skinner, Steven A.; DuPont, Barbara R.; Fletcher, Robin S.; Balci, Tugce B.; Siu, Victoria Mok; Granadillo, Jorge L.; Masters, Jennefer; Kadour, Mike; Friez, Michael J.; van Haelst, Mieke M.; Mannens, Marcel M. A. M.; Louie, Raymond J.; Lee, Jennifer A.; Tedder, Matthew L.; Alders, Marielle 分享 收藏
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities Chowdhury, Fuad; Wang, Lei; Al-Raqad, Mohammed; Amor, David J.; Baxova, Alice; Bendova, Sarka; Biamino, Elisa; Brusco, Alfredo; Caluseriu, Oana; Cox, Nancy J.; Froukh, Tawfiq; Gunay-Aygun, Meral; Hancarova, Miroslava; Haynes, Devon; Heide, Solveig; Hoganson, George; Kaname, Tadashi; Keren, Boris; Kosaki, Kenjiro; Kubota, Kazuo; Lemons, Jennifer M.; Magrina, Maria A.; Mark, Paul R.; McDonald, Marie T.; Montgomery, Sarah; Morley, Gina M.; Ohnishi, Hidenori; Okamoto, Nobuhiko; Rodriguez-Buritica, David; Rump, Patrick; Sedlacek, Zdenek; Schatz, Krista; Streff, Haley; Uehara, Tomoko; Walia, Jagdeep S.; Wheeler, Patricia G.; Wiesener, Antje; Zweier, Christiane; Kawakami, Koichi; Wentzensen, Ingrid M.; Lalani, Seema R.; Siu, Victoria M.; Bi, Weimin; Balci, Tugce B. 分享 收藏
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders Sadikovic, Bekim; Levi, Michael A.; Kerkhof, Jennifer; Aref-Eshghi, Erfan; Schenkel, Laila; Stuart, Alan; McConkey, Haley; Henneman, Peter; Venema, Andrea; Schwartz, Charles E.; Stevenson, Roger E.; Skinner, Steven A.; DuPont, Barbara R.; Fletcher, Robin S.; Balci, Tugce B.; Siu, Victoria Mok; Granadillo, Jorge L.; Masters, Jennefer; Kadour, Mike; Friez, Michael J.; van Haelst, Mieke M.; Mannens, Marcel M. A. M.; Louie, Raymond J.; Lee, Jennifer A.; Tedder, Matthew L.; Alders, Marielle 分享 收藏
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder 确定X连锁MSL3-related障碍的基因型和表型谱 Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M.; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P.; Callewaert, Bert L.; Cereda, Anna; Cousin, Margot A.; Jimenez, Juan C. Del Rey; Demmer, Laurie; Dsouza, Nikita R.; Fleischer, Nicole; Gavrilova, Ralitza H.; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R.; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W.; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A.; McEntagart, Meriel; Meeks, Naomi J. L.; Mittag, Dana; Moore, Harrison; Olsen, Anne K.; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D. M.; Person, Richard E.; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J. Guillen; Bradley Schaefer, G.; Schnur, Rhonda E.; Scott, Tiana M.; Scott, Daryl A.; Serbinski, Carolyn R.; Shashi, Vandana; Siu, Victoria M.; Stadheim, Barbro Fossoy; Sullivan, Jennifer A.; Svantnerova, Jana; Velsher, Lea; Wargowski, David S.; Wentzensen, Ingrid M.; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T.; Meitinger, Thomas; Distelmaier, Felix; Wagner, Matias 分享 收藏
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 与TRAF7种系变异相关的表型谱和转录组谱 Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T. 分享 收藏
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Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature Ciolfi, Andrea; Aref-Eshghi, Erfan; Pizzi, Simone; Pedace, Lucia; Miele, Evelina; Kerkhof, Jennifer; Flex, Elisabetta; Martinelli, Simone; Radio, Francesca Clementina; Ruivenkamp, Claudia A. L.; Santen, Gijs W. E.; Bijlsma, Emilia; Barge-Schaapveld, Daniela; Ounap, Katrin; Siu, Victoria Mok; Kooy, R. Frank; Dallapiccola, Bruno; Sadikovic, Bekim; Tartaglia, Marco 分享 收藏
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders Szot, Justin O.; Campagnolo, Carla; Cao, Ye; Iyer, Kavitha R.; Cuny, Hartmut; Drysdale, Thomas; Flores-Daboub, Josue A.; Bi, Weimin; Westerfield, Lauren; Liu, Pengfei; Leung, Tse Ngong; Choy, Kwong Wai; Chapman, Gavin; Xiao, Rui; Siu, Victoria M.; Dunwoodie, Sally L. 分享 收藏
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Aref-Eshghi, Erfan; Bend, Eric G.; Colaiacovo, Samantha; Caudle, Michelle; Chakrabarti, Rana; Napier, Melanie; Brick, Lauren; Brady, Lauren; Carere, Deanna Alexis; Levy, Michael A.; Kerkhof, Jennifer; Stuart, Alan; Saleh, Maha; Beaudet, Arthur L.; Li, Chumei; Kozenko, Maryia; Karp, Natalya; Prasad, Chitra; Siu, Victoria Mok; Tarnopolsky, Mark A.; Ainsworth, Peter J.; Lin, Hanxin; Rodenhiser, David I.; Krantz, Ian D.; Deardorff, Matthew A.; Schwartz, Charles E.; Sadikovic, Bekim 分享 收藏
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