Not logged inShort-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A.; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E.; Bitoun, Pierre; Kirk, Edwin P.; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; Fitzpatrick, David R.; Meynert, Alison .png)
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SaveRare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesNil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J. Share Save Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sitesde Prisco, Nicola; Ford, Caitlin; Elrod, Nathan D.; Lee, Winston; Tang, Lauren C.; Huang, Kai-Lieh; Lin, Ai; Ji, Ping; Jonnakuti, Venkata S.; Boyle, Lia; Cabaj, Maximilian; Botta, Salvatore; ounap, Katrin; Reinson, Karit; Wojcik, Monica H.; Rosenfeld, Jill A.; Bi, Weimin; Tveten, Kristian; Prescott, Trine; Gerstner, Thorsten; Schroeder, Audrey; Fong, Chin-To; George-Abraham, Jaya K.; Buchanan, Catherine A.; Hanson-Khan, Andrea; Bernstein, Jonathan A.; Nella, Aikaterini A.; Chung, Wendy K.; Brandt, Vicky; Jovanovic, Marko; Targoff, Kimara L.; Yalamanchili, Hari Krishna; Wagner, Eric J.; Gennarino, Vincenzo A. Share Save Share Save Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalisSmeland, Marie F.; Brouillard, Pascal; Prescott, Trine; Boon, Laurence M.; Hvingel, Bodil; Nordbakken, Cecilie, V; Nystad, Mona; Holla, Oystein L.; Vikkula, Miikka Share Save KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gatingZhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B. S.; Lerche, Holger; Lemke, Johannes R.; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E.; Rehm, Heidi L.; McLaughlin, Heather; Bolz, Hanno J.; Zechner, Ulrich; Bryant, Emily; McDonough, Tiffani; Kindler, Stefan; Baehring, Robert Share Save Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variantsGauquelin, Laurence; Cayami, Ferdy K.; Sztriha, Laszlo; Yoon, Grace; Tran, Luan T.; Guerrero, Kether; Hocke, Francois; van Spaendonk, Rosalina M. L.; Fung, Eva L.; D'Arrigo, Stefano; Vasco, Gessica; Thiffault, Isabelle; Niyazov, Dmitriy M.; Person, Richard; Lewis, Kara Stuart; Wassmer, Evangeline; Prescott, Trine; Fallon, Penny; McEntagart, Meriel; Rankin, Julia; Webster, Richard; Philippi, Heike; van de Warrenburg, Bart; Timmann, Dagmar; Dixit, Abhijit; Searle, Claire; Thakur, Nivedita; Kruer, Michael C.; Sharma, Suvasini; Vanderver, Adeline; Tonduti, Davide; van der Knaap, Marjo; Bertini, Enrico; Goizet, Cyril; Fribourg, Sebastien; Wolf, Nicole, I; Bernard, Genevieve Share Save The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingMarbach, Felix; Rustad, Cecilie F.; Riess, Angelika; Dukic, Dejan; Hsieh, Tzung-Chien; Jobani, Itamar; Prescott, Trine; Bevot, Andrea; Erger, Florian; Houge, Gunnar; Redfors, Maria; Altmueller, Janine; Stokowy, Tomasz; Gilissen, Christian; Kubisch, Christian; Scarano, Emanuela; Mazzanti, Laura; Fiskerstrand, Torunn; Krawitz, Peter M.; Lessel, Davor; Netzer, Christian Share Save Share Save HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patientsMoortgat, Stephanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, Francois-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjorn I.; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cecile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; Verloes, Alain; von der Lippe, Charlotte; Wakeling, Emma; Wilkie, Andrew O. M.; Wilson, Louise; Yuen, Amy; Low, Karen J.; Newbury-Ecob, Ruth A. Share Save De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilityKury, Sebastien; van Woerden, Geeske M.; Besnard, Thomas; Onori, Martina Proietti; Latypova, Xenia; Towne, Meghan C.; Cho, Megan T.; Prescott, Trine E.; Ploeg, Melissa A.; Sanders, Stephan; Stessman, Holly A. F.; Pujol, Aurora; Ben Distel; Robak, Laurie A.; Bernstein, Jonathan A.; Denomme-Pichon, Anne-Sophie; Lesca, Gaetan; Sellars, Elizabeth A.; Berg, Jonathan; Carre, Wilfrid; Busk, Oyvind Lovold; van Bon, Bregje W. M.; Waugh, Jeff L.; Deardorff, Matthew; Hoganson, George E.; Bosanko, Katherine B.; Johnson, Diana S.; Dabir, Tabib; Holla, Oystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J.; Terhal, Paulien A.; Grange, Dorothy K.; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J.; Douglas, Jessica; Santani, Avni B.; Nesbitt, Addie I.; Helbig, Katherine L.; Andrews, Marisa V.; Begtrup, Amber; Tang, Sha; van Gassen, Koen L. I.; Juusola, Jane; Foss, Kimberly; Enns, Gregory M.; Moog, Ute; Hinderhofer, Katrin; Paramasivam, Nagarajan; Lincoln, Sharyn; Kusako, Brandon H.; Lindenbaum, Pierre; Charpentier, Eric; Nowak, Catherine B.; Cherot, Elouan; Simonet, Thomas; Ruivenkamp, Claudia A. L.; Hahn, Sihoun; Brownstein, Catherine A.; Xia, Fan; Schmitt, Sebastien; Deb, Wallid; Bonneau, Dominique; Nizon, Mathilde; Quinquis, Delphine; Chelly, Jamel; Rudolf, Gabrielle; Sanlaville, Damien; Parent, Philippe; Gilbert-Dussardier, Brigitte; Toutain, Annick; Sutton, Vernon R.; Thies, Jenny; Peart-Vissers, Lisenka E. L. M.; Boisseau, Pierre; Vincent, Marie; Grabrucker, Andreas M.; Dubourg, Christele; Tan, Wen-Hann; Verbeek, Nienke E.; Granzow, Martin; Santen, Gijs W. E.; Shendure, Jay; Isidor, Bertrand; Pasquier, Laurent; Redon, Richard; Yang, Yaping; State, Matthew W.; Kleefstra, Tjitske; Cogne, Benjamin; Petrovski, Slave; Retterer, Kyle; Eichler, Evan E.; Rosenfeld, Jill A.; Agrawal, Pankaj B.; Bezieau, Stephane; Odent, Sylvie; Elgersma, Ype; Mercier, Sandra Share Save PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresLow, Karen J.; Ansari, Morad; Abou Jamra, Rami; Clarke, Angus; El Chehadeh, Salima; FitzPatrick, David R.; Greenslade, Mark; Henderson, Alex; Hurst, Jane; Keller, Kory; Kuentz, Paul; Prescott, Trine; Roessler, Franziska; Selmer, Kaja K.; Schneider, Michael C.; Stewart, Fiona; Tatton-Brown, Katrina; Thevenon, Julien; Vigeland, Magnus D.; Vogt, Julie; Willems, Marjolaine; Zonana, Jonathan; Smithson, Sarah F. Share Save Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersStray-Pedersen, Asbjorg; Sorte, Hanne Sormo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K.; Akdemir, Zeynep H. Coban; Erichsen, Hans Christian; Forbes, Lisa R.; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N.; Muzny, Donna M.; Rodningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K.; Noroski, Lenora M.; Seeborg, Filiz O.; Davis, Carla M.; Canter, Debra L.; Mace, Emily M.; Vece, Timothy J.; Allen, Carl E.; Abhyankar, Harshal A.; Boone, Philip M.; Beck, Christine R.; Wiszniewski, Wojciech; Fevang, Borre; Aukrust, Pal; Tjonnfjord, Geir E.; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordoy, Ingvild; Jorgensen, Silje F.; Abrahamsen, Tore G.; Overland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T. N.; Kulseth, Mari Ann; Prescott, Trine E.; Rustad, Cecilie F.; Heimdal, Ketil R.; Belmont, John W.; Rider, Nicholas L.; Chinen, Javier; Cao, Tram N.; Smith, Eric A.; Soledad Caldirola, Maria; Bezrodnik, Liliana; Lugo Reyes, Saul Oswaldo; Espinosa Rosales, Francisco J.; Guerrero-Cursaru, Nina Denisse; Pedroza, Luis Alberto; Poli, Cecilia M.; Franco, Jose L.; Trujillo Vargas, Claudia M.; Aldave Becerra, Juan Carlos; Wright, Nicola; Issekutz, Thomas B.; Issekutz, Andrew C.; Abbott, Jordan; Caldwell, Jason W.; Bayer, Diana K.; Chan, Alice Y.; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, Gozde; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K.; Ehlayel, Mohammad S.; Jolles, Stephen; Flato, Berit; Bertuch, Alison A.; Hanson, I. Celine; Zhang, Victor W.; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine M.; Boerwinkle, Eric; Gibbs, Richard A.; Shearer, William T.; Lyle, Robert; Orange, Jordan S.; Lupski, James R. Share Save A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMcEntagart, Meriel; Williamson, Kathleen A.; Rainger, Jacqueline K.; Wheeler, Ann; Seawright, Anne; De Baere, Elfride; Verdin, Hannah; Bergendahl, L. Therese; Quigley, Alan; Rainger, Joe; Dixit, Abhijit; Sarkar, Ajoy; Lopez Laso, Eduardo; Sanchez-Carpintero, Rocio; Barrio, Jesus; Bitoun, Pierre; Prescott, Trine; Riise, Ruth; McKee, Shane; Cook, Jackie; McKie, Lisa; Ceulemans, Berten; Meire, Francoise; Temple, I. Karen; Prieur, Fabienne; Williams, Jonathan; Clouston, Penny; Nemeth, Andrea H.; Banka, Siddharth; Bengani, Hemant; Handley, Mark; Freyer, Elisabeth; Ross, Allyson; van Heyningen, Veronica; Marsh, Joseph A.; Elmslie, Frances; FitzPatrick, David R. Share Save Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual DisabilityStray-Pedersen, Asbjorg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tetreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo-Graovac, Maja; van Karnebeek, Clara D. M.; Lupski, James R.; Ren, Dejian; Yoon, Grace Share Save Syndromic X-linked intellectual disability segregating with a missense variant in RLIMTonne, Elin; Holdhus, Rita; Stansberg, Christine; Stray-Pedersen, Asbjorg; Petersen, Kjell; Brunner, Han G.; Gilissen, Christian; Hoischen, Alexander; Prescott, Trine; Steen, Vidar M.; Fiskerstrand, Torunn Share Save The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE PatientsMarcos, Severine; Sarfati, Julie; Leroy, Chrystel; Fouveaut, Corinne; Parent, Philippe; Metz, Chantal; Wolczynski, Slawomir; Gerard, Marion; Bieth, Eric; Kurtz, Francois; Verier-Mine, Odile; Perrin, Laurence; Archambeaud, Francoise; Cabrol, Sylvie; Rodien, Patrice; Hove, Hanne; Prescott, Trine; Lacombe, Didier; Christin-Maitre, Sophie; Touraine, Philippe; Hieronimus, Sylvie; Dewailly, Didier; Young, Jacques; Pugeat, Michel; Hardelin, Jean-Pierre; Dode, Catherine Share Save Share Save Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye MalformationsRainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A.; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Juergen; Horn, Denise; Meynert, Alison; Floyd, James A. B.; Prescott, Trine; Anderson, Carl A.; Rainger, Jacqueline K.; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M.; Seawright, Anne; Soares, Dinesh C.; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Gibbs, Richard A.; van Heyningen, Veronica; Taylor, Martin S.; Yakut, Tahsin; Knappskog, Per M.; Hurles, Matthew E.; Ponting, Chris P.; Lupski, James R.; Houge, Gunnar; FitzPatrick, David R. Share Save 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLomax, Lysa Boisse; Bayly, Marta A.; Hjalgrim, Helle; Moller, Rikke S.; Vlaar, Annemarie M.; Aaberg, Kari M.; Marquardt, Iris; Gandolfo, Luke C.; Willemsen, Michel; Kamsteeg, Erik-Jan; O'Sullivan, John D.; Korenke, G. Christoph; Bloem, Bastiaan R.; de Coo, Irenaeus F.; Verhagen, Judith M. A.; Said, Ines; Prescott, Trine; Stray-Pedersen, Asbjorg; Rasmussen, Magnhild; Vears, Danya F.; Lehesjoki, Anna-Elina; Corbett, Mark A.; Bahlo, Melanie; Gecz, Jozef; Dibbens, Leanne M.; Berkovic, Samuel F. Share Save 
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