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William Reardon

Teagasc

76H指数
340论文数
2.1W被引数
收录论文 79
发表时间
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
errBRAIN
IF11.7
err2023-12-23
err2
PREAI
errHusain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio
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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
err2021-04-01
err22
errOAAI
errPolla, D. L.; Bhoj, E. J.; Verheij, J. B. G. M.; Wassink-Ruiter, J. S. Klein; Reis, A.; Deshpande, C.; Gregor, A.; Hill-Karfe, K.; Vulto-van Silfhout, A. T.; Pfundt, R.; Bongers, E. M. H. F.; Hakonarson, H.; Berland, S.; Gradek, G.; Banka, S.; Chandler, K.; Gompertz, L.; Huffels, S. C.; Stumpel, C. T. R. M.; Wennekes, R.; Stegmann, A. P. A.; Reardon, W.; Leenders, E. K. S. M.; de Vries, B. B. A.; Li, D.; Zackai, E.; Ragge, N.; Lynch, S. A.; Cuddapah, S.; van Bokhoven, H.; Zweier, C.; de Brouwer, A. P. M.
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Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
err2020-08-28
err79
errOAAI
errBertoli-Avella, Aida M.; Beetz, Christian; Ameziane, Najim; Rocha, Maria Eugenia; Guatibonza, Pilar; Pereira, Catarina; Calvo, Maria; Herrera-Ordonez, Natalia; Segura-Castel, Monica; Diego-Alvarez, Dan; Zawada, Michal; Kandaswamy, Krishna K.; Werber, Martin; Paknia, Omid; Zielske, Susan; Ugrinovski, Dimitar; Warnack, Gitte; Kampe, Kapil; Iurascu, Marius-Ionut; Cozma, Claudia; Vogel, Florian; Alhashem, Amal; Hertecant, Jozef; Al-Shamsi, Aisha M.; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa; Al Mutairi, Fuad; Alfares, Ahmed; Albalwi, Mohammed A.; Alfadhel, Majid; Al-Sannaa, Nouriya Abbas; Reardon, Willie; Alanay, Yasemin; Rolfs, Arndt; Bauer, Peter
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Novel clinical and genetic insight into CXorf56-associated intellectual disability
err2019-12-10
err6
errOAAI
errRocha, Maria Eugenia; Silveira, Taina Regina Damaceno; Sasaki, Erina; Sas, Daise Moreno; Lourenco, Charles Marques; Kandaswamy, Krishna K.; Beetz, Christian; Rolfs, Arndt; Bauer, Peter; Reardon, Willie; Bertoli-Avella, Aida M.
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
err2019-08-01
err48
errOAAI
errHaijes, Hanneke A.; Koster, Maria J. E.; Rehmann, Holger; Li, Dong; Hakonarson, Hakon; Cappuccio, Gerarda; Hancarova, Miroslava; Lehalle, Daphne; Reardon, Willie; Schaefer, G. Bradley; Lehman, Anna; van de Laar, Ingrid M. B. H.; Tesselaar, Coranne D.; Turner, Clesson; Goldenberg, Alice; Patrier, Sophie; Thevenon, Julien; Pinelli, Michele; Brunetti-Pierri, Nicola; Prchalova, Darina; Havlovicova, Marketa; Vlckova, Marketa; Sedlacek, Zdenek; Lopez, Elena; Ragoussis, Vassilis; Pagnamenta, Alistair T.; Kini, Usha; Vos, Harmjan R.; van Es, Robert M.; van Schaik, Richard F. M. A.; van Essen, Ton A. J.; Kibaek, Maria; Taylor, Jenny C.; Sullivan, Jennifer; Shashi, Vandana; Petrovski, Slave; Fagerberg, Christina; Martin, Donna M.; van Gassen, Koen L., I; Pfundt, Rolph; Falk, Marni J.; McCormick, Elizabeth M.; Timmers, H. T. Marc; van Hasselt, Peter M.
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Pathogenic Variants in GPC4 Cause Keipert Syndrome
err2019-05-01
err22
errOAAI
errAmor, David J.; Stephenson, Sarah E. M.; Mustapha, Mirna; Mensah, Martin A.; Ockeloen, Charlotte W.; Lee, Wei Shern; Tankard, Rick M.; Phelan, Dean G.; Shinawi, Marwan; de Brouwer, Arjan P. M.; Pfundt, Rolph; Dowling, Cari; Toler, Tomi L.; Sutton, V. Reid; Agolini, Emanuele; Rinelli, Martina; Capolino, Rossella; Martinelli, Diego; Zampino, Giuseppe; Dumic, Miroslav; Reardon, William; Shaw-Smith, Charles; Leventer, Richard J.; Delatycki, Martin B.; Kleefstra, Tjitske; Mundlos, Stefan; Mortier, Geert; Bahlo, Melanie; Allen, Nicola J.; Lockhart, Paul J.
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A review of filamin A mutations and associated interstitial lung disease
err2018-12-13
err46
errOAAI
errSasaki, Erina; Byrne, Angela T.; Phelan, Ethna; Cox, Desmond W.; Reardon, William
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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
err2018-07-04
err44
errOAAI
errMeester, Josephina A. N.; Sukalo, Maja; Schroeder, Kim C.; Schanze, Denny; Baynam, Gareth; Borck, Guntram; Bramswig, Nuria C.; Duman, Duygu; Gilbert-Dussardier, Brigitte; Holder-Espinasse, Muriel; Itin, Peter; Johnson, Diana S.; Joss, Shelagh; Koillinen, Hannele; McKenzie, Fiona; Morton, Jenny; Nelle, Heike; Reardon, Willie; Roll, Claudia; Salih, Mustafa A.; Savarirayan, Ravi; Scurr, Ingrid; Splitt, Miranda; Thompson, Elizabeth; Titheradge, Hannah; Travers, Colm P.; Van Maldergem, Lionel; Whiteford, Margo; Wieczorek, Dagmar; Vandeweyer, Geert; Trembath, Richard; Van Laer, Lut; Loeys, Bart L.; Zenker, Martin; Southgate, Laura; Wuyts, Wim
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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
err2017-05-01
err155
errOAAI
errButcher, Darci T.; Cytrynbaum, Cheryl; Turinsky, Andrei L.; Siu, Michelle T.; Inbar-Feigenberg, Michal; Mendoza-Londono, Roberto; Chitayat, David; Walker, Susan; Machado, Jerry; Caluseriu, Oana; Dupuis, Lucie; Grafodatskaya, Daria; Reardon, William; Gilbert-Dussardier, Brigitte; Verloes, Alain; Bilan, Frederic; Milunsky, Jeff M.; Basran, Raveen; Papsin, Blake; Stockley, Tracy L.; Scherer, Stephen W.; Choufani, Sanaa; Brudno, Michael; Weksberg, Rosanna
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Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum
err2016-10-01
err55
errOAAI
errGobius, Ilan; Morcom, Laura; Suarez, Rodrigo; Bunt, Jens; Bukshpun, Polina; Reardon, William; Dobyns, William B.; Rubenstein, John L. R.; Barkovich, A. James; Sherr, Elliott H.; Richards, Linda J.
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NSD1 mutations generate a genome-wide DNA methylation signature
err2015-12-22
err151
errOAAI
errChoufani, S.; Cytrynbaum, C.; Chung, B. H. Y.; Turinsky, A. L.; Grafodatskaya, D.; Chen, Y. A.; Cohen, A. S. A.; Dupuis, L.; Butcher, D. T.; Siu, M. T.; Luk, H. M.; Lo, I. F. M.; Lam, S. T. S.; Caluseriu, O.; Stavropoulos, D. J.; Reardon, W.; Mendoza-Londono, R.; Brudno, M.; Gibson, W. T.; Chitayat, D.; Weksberg, R.
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Further delineation of the KAT6B molecular and phenotypic spectrum
err2014-11-26
err56
errOAAI
errGannon, Tamsin; Perveen, Rahat; Schlecht, Helene; Ramsden, Simon; Anderson, Beverley; Kerr, Bronwyn; Day, Ruth; Banka, Siddharth; Suri, Mohnish; Berland, Siren; Gabbett, Michael; Ma, Alan; Lyonnet, Stan; Cormier-Daire, Valerie; Yilmaz, Ruestem; Borck, Guntram; Wieczorek, Dagmar; Anderlid, Britt-Marie; Smithson, Sarah; Vogt, Julie; Moore-Barton, Heather; Simsek-Kiper, Pelin Ozlem; Maystadt, Isabelle; Destree, Anne; Bucher, Jessica; Angle, Brad; Mohammed, Shehla; Wakeling, Emma; Price, Sue; Singer, Amihood; Sznajer, Yves; Toutain, Annick; Haye, Damien; Newbury-Ecob, Ruth; Fradin, Melanie; McGaughran, Julie; Tuysuz, Beyhan; Tein, Mark; Bouman, Katelijne; Dabir, Tabib; Van den Ende, Jenneke; Luk, Ho Ming; Pilz, Daniela T.; Eason, Jacqueline; Davies, Sally; Reardon, Willie; Garavelli, Livia; Zuffardi, Orsetta; Devriendt, Koen; Armstrong, Ruth; Johnson, Diana; Doco-Fenzy, Martine; Bijlsma, Emilia; Unger, Sheila; Veenstra-Knol, Hermine E.; Kohlhase, Juergen; Lo, Ivan F. M.; Smith, Janine; Clayton-Smith, Jill
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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
err2013-07-24
err44
errOAAI
errVoigt, Claudia; Megarbane, Andre; Neveling, Kornelia; Czeschik, Johanna Christina; Albrecht, Beate; Callewaert, Bert; von Deimling, Florian; Hehr, Andreas; Smeland, Marie Falkenberg; Konig, Rainer; Kuechler, Alma; Marcelis, Carlo; Puiu, Maria; Reardon, Willie; Stensland, Hilde Monica Frostad Riise; Schweiger, Bernd; Steehouwer, Marloes; Teller, Christopher; Martin, Marcel; Rahmann, Sven; Hehr, Ute; Brunner, Han G.; Ludecke, Hermann-Josef; Wieczorek, Dagmar
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Mutations in PIK3R1 Cause SHORT Syndrome
err2013-07-01
err154
errOAAI
errDyment, David A.; Smith, Amanda C.; Alcantara, Diana; Schwartzentruber, Jeremy A.; Basel-Vanagaite, Lina; Curry, Cynthia J.; Temple, I. Karen; Reardon, William; Mansour, Sahar; Haq, Mushfequr R.; Gilbert, Rodney; Lehmann, Ordan J.; Vanstone, Megan R.; Beaulieu, Chandree L.; Majewski, Jacek; Bulman, Dennis E.; O'Driscoll, Mark; Boycott, Kym M.; Innes, A. Micheil
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Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
err2013-01-29
err69
errOAAI
errRudnik-Schoeneborn, Sabine; Senderek, Jan; Jen, Joanna C.; Houge, Gunnar; Seeman, Pavel; Puchmajerova, Alena; Graul-Neumann, Luitgard; Seidel, Ulrich; Korinthenberg, Rudolf; Kirschner, Janbernd; Seeger, Juergen; Ryan, Monique M.; Muntoni, Francesco; Steinlin, Maja; Sztriha, Laszlo; Colomer, Jaume; Huebner, Christoph; Brockmann, Knut; Van Maldergem, Lionel; Schiff, Manuel; Holzinger, Andreas; Barth, Peter; Reardon, William; Yourshaw, Michael; Nelson, Stanley F.; Eggermann, Thomas; Zerres, Klaus
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Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
err2012-02-15
err89
errOAAI
errde Munnik, Sonja A.; Bicknell, Louise S.; Aftimos, Salim; Al-Aama, Jumana Y.; van Bever, Yolande; Bober, Michael B.; Clayton-Smith, Jill; Edrees, Alaa Y.; Feingold, Murray; Fryer, Alan; van Hagen, Johanna M.; Hennekam, Raoul C.; Jansweijer, Maaike C. E.; Johnson, Diana; Kant, Sarina G.; Opitz, John M.; Ramadevi, A. Radha; Reardon, Willie; Ross, Alison; Sarda, Pierre; Schrander-Stumpel, Constance T. R. M.; Schoots, Jeroen; Temple, I. Karen; Terhal, Paulien A.; Toutain, Annick; Wise, Carol A.; Wright, Michael; Skidmore, David L.; Samuels, Mark E.; Hoefsloot, Lies H.; Knoers, Nine V. A. M.; Brunner, Han G.; Jackson, Andrew P.; Bongers, Ernie M. H. F.
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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
err2012-02-01
err89
errOAAI
errSimpson, Michael A.; Deshpande, Charu; Dafou, Dimitra; Vissers, Lisenka E. L. M.; Woollard, Wesley J.; Holder, Susan E.; Gillessen-Kaesbach, Gabriele; Derks, Ronny; White, Susan M.; Cohen-Snuijf, Ruthy; Kant, Sarina G.; Hoefsloot, Lies H.; Reardon, Willie; Brunner, Han G.; Bongers, Ernie M. H. F.; Trembath, Richard C.
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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
err2011-12-17
err61
errOAAI
errMolin, A-M; Andrieux, J.; Koolen, D. A.; Malan, V.; Carella, M.; Colleaux, L.; Cormier-Daire, V.; David, A.; de Leeuw, N.; Delobel, B.; Duban-Bedu, B.; Fischetto, R.; Flinter, F.; Kjaergaard, S.; Kok, F.; Krepischi, A. C.; Le Caignec, C.; Ogilvie, C. Mackie; Maia, S.; Mathieu-Dramard, M.; Munnich, A.; Palumbo, O.; Papadia, F.; Pfundt, R.; Reardon, W.; Receveur, A.; Rio, M.; Darling, L. Ronsbro; Rosenberg, C.; Sa, J.; Vallee, L.; Vincent-Delorme, C.; Zelante, L.; Bondeson, M-L; Anneren, G.
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
err2011-11-30
err151
errOAAI
errBanka, Siddharth; Veeramachaneni, Ratna; Reardon, William; Howard, Emma; Bunstone, Sancha; Ragge, Nicola; Parker, Michael J.; Crow, Yanick J.; Kerr, Bronwyn; Kingston, Helen; Metcalfe, Kay; Chandler, Kate; Magee, Alex; Stewart, Fiona; McConnell, Vivienne P. M.; Donnelly, Deirdre E.; Berland, Siren; Houge, Gunnar; Morton, Jenny E.; Oley, Christine; Revencu, Nicole; Park, Soo-Mi; Davies, Sally J.; Fry, Andrew E.; Lynch, Sally Ann; Gill, Harinder; Schweiger, Susann; Lam, Wayne W. K.; Tolmie, John; Mohammed, Shehla N.; Hobson, Emma; Smith, Audrey; Blyth, Moira; Bennett, Christopher; Vasudevan, Pradeep C.; Garcia-Minaur, Sixto; Henderson, Alex; Goodship, Judith; Wright, Michael J.; Fisher, Richard; Gibbons, Richard; Price, Susan M.; de Silva, Deepthi C.; Temple, I. Karen; Collins, Amanda L.; Lachlan, Katherine; Elmslie, Frances; McEntagart, Meriel; Castle, Bruce; Clayton-Smith, Jill; Black, Graeme C.; Donnai, Dian
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Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies
err2011-09-14
err71
errOAAI
errNowakowska, Beata A.; de Leeuw, Nicole; Ruivenkamp, Claudia A. L.; Sikkema-Raddatz, Birgit; Crolla, John A.; Thoelen, Reinhilde; Koopmans, Marije; den Hollander, Nicolette; van Haeringen, Arie; van der Kevie-Kersemaekers, Anne-Marie; Pfundt, Rolph; Mieloo, Hanneke; van Essen, Ton; de Vries, Bert B. A.; Green, Andrew; Reardon, Willie; Fryns, Jean-Pierre; Vermeesch, Joris R.
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