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Radio, FC; Pang, KF; Ciolfi, A; Levy, MA; Hernandez-Garcia, A; Pedace, L; Pantaleoni, F; Liu, ZD; de Boer, E; Jackson, A; Bruselles, A; McConkey, H; Stellacci, E; Lo Cicero, S; Motta, M; Carrozzo, R; Dentici, ML; McWalter, K; Desai, M; Monaghan, KG; Telegrafi, A; Philippe, C; Vitobello, A; Au, M; Grand, K; Sanchez-Lara, PA; Baez, J; Lindstrom, K; Kulch, P; Sebastian, J; Madan-Khetarpal, S; Roadhouse, C; MacKenzie, JJ; Monteleone, B; Saunders, CJ; Cuevas, JKJ; Cross, L; Zhou, DH; Hartley, T; Sawyer, SL; Monteiro, FP; Secches, TV; Kok, F; Schultz-Rogers, LE; Macke, EL; Morava, E; Klee, EW; Kemppainen, J; Iascone, M; Selicorni, A; Tenconi, R; Amor, DJ; Pais, L; Gallacher, L; Turnpenny, PD; Stals, K; Ellard, S; Cabet, S; Lesca, G; Pascal, J; Steindl, K; Ravid, S; Weiss, K; Castle, AMR; Carter, MT; Kalsner, L; de Vries, BBA; van Bon, BW; Wevers, MR; Pfundt, R; Stegmann, APA; Kerr, B; Kingston, HM; Chandler, KE; Sheehan, W; Elias, AF; Shinde, DN; Towne, MC; Robin, NH; Goodloe, D; Vanderver, A; Sherbini, O; Bluske, K; Hagelstrom, RT; Zanus, C; Faletra, F; Musante, L; Kurtz-Nelson, EC; Earl, RK; Anderlid, BM; Morin, G; van Slegtenhorst, M; Diderich, KEM; Brooks, AS; Gribnau, J; Boers, RG; Finestra, TR; Carter, LB; Rauch, A; Gasparini, P; Boycott, KM; Barakat, TS; Graham, JM; Faivre, L; Banka, S; Wang, TY; Eichler, EE; Priolo, M; Dallapiccola, B; Vissers, LELM; Sadikovic, B; Scott, DA; Holder, JL; Tartaglia, M
American journal of human genetics. 108(3):502-516
Conference
2021 IEEE Industry Applications Society Annual Meeting (IAS) Industry Applications Society Annual Meeting (IAS), 2021 IEEE. :1-8 Oct, 2021
Academic Journal
O'Donnell-Luria, AH; Pais, LS; Faundes, V; Wood, JC; Sveden, A; Luria, V; Abou Jamra, R; Accogli, A; Amburgey, K; Anderlid, BM; Azzarello-Burri, S; Basinger, AA; Bianchini, C; Bird, LM; Buchert, R; Carre, W; Ceulemans, S; Charles, P; Cox, H; Culliton, L; Curro, A; Demurger, F; Dowling, JJ; Duban-Bedu, B; Dubourg, C; Eiset, SE; Escobar, LF; Ferrarini, A; Haack, TB; Hashim, M; Heide, S; Helbig, KL; Helbig, I; Heredia, R; Heron, D; Isidor, B; Jonasson, AR; Joset, P; Keren, B; Kok, F; Kroes, HY; Lavillaureix, A; Lu, X; Maas, SM; Maegawa, GHB; Marcelis, CLM; Mark, PR; Masruha, MR; McLaughlin, HM; McWalter, K; Melchinger, EU; Mercimek-Andrews, S; Nava, C; Pendziwiat, M; Person, R; Ramelli, GP; Ramos, LLP; Rauch, A; Reavey, C; Renieri, A; Riess, A; Sanchez-Valle, A; Sattar, S; Saunders, C; Schwarz, N; Smol, T; Srour, M; Steindl, K; Syrbe, S; Taylor, JC; Telegrafi, A; Thiffault, I; Trauner, DA; van der Linden, H; van Koningsbruggen, S; Villard, L; Vogel, I; Vogt, J; Weber, YG; Wentzensen, IM; Widjaja, E; Zak, J; Baxter, S; Banka, S; Rodan, LH; Mcrae, JF; Clayton, S; Fitzgerald, TW; Kaplanis, J; Prigmore, E; Rajan, D; Sifrim, A; Aitken, S; Akawi, N; Alvi, M; Ambridge, K; Barrett, DM; Bayzetinova, T; Jones, P; Jones, WD; King, D; Krishnappa, N; Mason, LE; Singh, T; Tivey, AR; Ahmed, M; Anjum, U; Archer, H; Armstrong, R; Awada, J; Balasubramanian, M; Baralle, D; Barnicoat, A; Batstone, P; Baty, D; Bennett, C; Berg, J; Bernhard, B; Bevan, AP; Bitner-Glindzicz, M; Blair, E; Blyth, M; Bohanna, D; Bourdon, L; Bourn, D; Bradley, L; Brady, A; Brent, S; Brewer, C; Brunstrom, K; Bunyan, DJ; Burn, J; Canham, N; Castle, B; Chandler, K; Chatzimichali, E; Cilliers, D; Clarke, A; Clasper, S; Clayton-Smith, J; Clowes, V; Coates, A; Cole, T; Colgiu, I; Collins, A; Collinson, MN; Connell, F; Cooper, N; Cresswell, L; Cross, G; Crow, Y; D'Alessandro, M; Dabir, T; Davidson, R; Davies, S; de Vries, D; Dean, J; Deshpande, C; Devlin, G; Dixit, A; Dobbie, A; Donaldson, A; Donnai, D; Donnelly, D; Donnelly, C; Douglas, A; Douzgou, S; Duncan, A; Eason, J; Ellard, S; Ellis, I; Elmslie, F; Evans, K; Everest, S; Fendick, T; Fisher, R; Flinter, F; Foulds, N; Fry, A; Fryer, A; Gardiner, C; Gaunt, L; Ghali, N; Gibbons, R; Gill, H; Goodship, J; Goudie, D; Gray, E; Green, A; Greene, P; Greenhalgh, L; Gribble, S; Harrison, R; Harrison, L; Harrison, V; Hawkins, R; He, L; Hellens, S; Henderson, A; Hewitt, S; Hildyard, L; Hobson, E; Holden, S; Holder, M; Holder, S; Hollingsworth, G; Homfray, T; Humphreys, M; Hurst, J; Hutton, B; Ingram, S; Irving, M; Islam, L; Jackson, A; Jarvis, J; Jenkins, L; Johnson, D; Jones, E; Josifova, D; Joss, S; Kaemba, B; Kazembe, S; Kelsell, R; Kerr, B; Kingston, H; Kini, U; Kinning, E; Kirby, G; Kirk, C; Kivuva, E; Kraus, A; Kumar, D; Kumar, VKA; Lachlan, K; Lam, W; Lampe, A; Langman, C; Lees, M; Lim, D; Longman, C; Lowther, G; Lynch, SA; Magee, A; Maher, E; Male, A; Mansour, S; Marks, K; Martin, K; Maye, U; McCann, E; McConnell, V; McEntagart, M; McGowan, R; Mckay, K; Mckee, S; McMullan, DJ; McNerlan, S; McWilliam, C; Mehta, S; Metcalfe, K; Middleton, A; Miedzybrodzka, Z; Miles, E; Mohammed, S; Montgomery, T; Moore, D; Morgan, S; Morton, J; Mugalaasi, H; Murday, V; Murphy, H; Naik, S; Nemeth, A; Nevitt, L; Newbury-Ecob, R; Norman, A; O'Shea, R; Ogilvie, C; Ong, KR; Park, SM; Parker, MJ; Patel, C; Paterson, J; Payne, S; Perrett, D; Phipps, J; Pilz, DT; Pollard, M; Pottinger, C; Poulton, J; Pratt, N; Prescott, K; Price, S; Pridham, A; Procter, A; Purnell, H; Quarrell, O; Ragge, N; Rahbari, R; Randall, J; Rankin, J; Raymond, L; Rice, D; Robert, L; Roberts, E; Roberts, J; Roberts, P; Roberts, G; Ross, A; Rosser, E; Saggar, A; Samant, S; Sampson, J; Sandford, R; Sarkar, A; Schweiger, S; Scott, R; Scurr, I; Selby, A; Seller, A; Sequeira, C; Shannon, N; Sharif, S; Shaw-Smith, C; Shearing, E; Shears, D; Sheridan, E; Simonic, I; Singzon, R; Skitt, Z; Smith, A; Smith, K; Smithson, S; Sneddon, L; Splitt, M; Squires, M; Stewart, F; Stewart, H; Straub, V; Suri, M; Sutton, V; Swaminathan, GJ; Sweeney, E; Tatton-Brown, K; Taylor, C; Taylor, R; Tein, M; Temple, IK; Thomson, J; Tischkowitz, M; Tomkins, S; Torokwa, A; Treacy, B; Turner, C; Turnpenny, P; Tysoe, C; Vandersteen, A; Varghese, V; Vasudevan, P; Vijayarangakannan, P; Wakeling, E; Wallwark, S; Waters, J; Weber, A; Wellesley, D; Whiteford, M; Widaa, S; Wilcox, S; Wilkinson, E; Williams, D; Williams, N; Wilson, L; Woods, G; Wragg, C; Wright, M; Yates, L; Yau, M; Nellaker, C; Parker, M; Firth, HV; Wright, CF; FitzPatrick, DR; Barrett, JC; Hurles, ME
American journal of human genetics. 104(6):1210-1222
Academic Journal
Cogne, B; Ehresmann, S; Beauregard-Lacroix, E; Rousseau, J; Besnard, T; Garcia, T; Petrovski, S; Avni, S; McWalter, K; Blackburn, PR; Sanders, SJ; Uguen, K; Harris, J; Cohen, JS; Blyth, M; Lehman, A; Berg, J; Li, MH; Kini, U; Joss, S; von der Lippe, C; Gordon, CT; Humberson, JB; Robak, L; Scott, DA; Sutton, VR; Skraban, CM; Johnston, JJ; Poduri, A; Nordenskjold, M; Shashi, V; Gerkes, EH; Bongers, EMHF; Gilissen, C; Zarate, YA; Kvarnung, M; Lally, KP; Kulch, PA; Daniels, B; Hernandez-Garcia, A; Stong, N; McGaughran, J; Retterer, K; Tveten, K; Sullivan, J; Geisheker, MR; Stray-Pedersen, A; Tarpinian, JM; Klee, EW; Sapp, JC; Zyskind, J; Holla, OL; Bedoukian, E; Filippini, F; Guimier, A; Picard, A; Busk, OL; Punetha, J; Pfundt, R; Lindstrand, A; Nordgren, A; Kalb, F; Desai, M; Ebanks, AH; Jhangiani, SN; Dewan, T; Akdemir, ZHC; Telegrafi, A; Zackai, EH; Begtrup, A; Song, XF; Toutain, A; Wentzensen, IM; Odent, S; Bonneau, D; Latypova, X; Deb, W; Redon, S; Bilan, F; Legendre, M; Troyer, C; Whitlock, K; Caluseriu, O; Murphree, MI; Pichurin, PN; Agre, K; Gavrilova, R; Rinne, T; Park, M; Shain, C; Heinzen, EL; Xiao, R; Amiel, J; Lyonnet, S; Isidor, B; Biesecker, LG; Lowenstein, D; Posey, JE; Denomme-Pichon, AS; Ferec, C; Yang, XJ; Rosenfeld, JA; Gilbert-Dussardier, B; Audebert-Bellanger, S; Redon, R; Stessman, HAF; Nellaker, C; Yang, YP; Lupski, JR; Goldstein, DB; Eichler, EE; Bolduc, F; Bezieau, S; Kury, S; Campeau, PM
American journal of human genetics. 104(3):530-541
Academic Journal
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F; Martinez-Agosto, Julian A; Palmer, Christina GS; Signer, Rebecca H; Undiagnosed Diseases Network; Andrews, Marisa V; Grange, Dorothy K; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P
Genetics in medicine : official journal of the American College of Medical Genetics. 23(8)
Academic Journal
Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S.; Al-Maawali, Almundher; Srinivasan, Varunvenkat M.; Al-Thihli, Khalid; Schaefer, G. Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M.; Mühlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegrafi, Aida; Cui, Hong; Schulz, Heidi L.; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Aráoz, Hilda Verónica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B.; Basinger, Alice A.; Pedersen, Signe Vandal; Pearson, Toni S.; Grange, Dorothy K.; Lingappa, Lokesh; McDunnah, Paige; Horvath, Rita; Cognè, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W.; Jafarnejad, Seyed Mehdi; Østergaard, Elsebet; Prada, Carlos E.; Ghezzi, Daniele; Gowda, Vykuntaraju K.; Taylor, Robert W.; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K.; Maroofian, Reza
In Genetics in Medicine November 2023 25(11)
Academic Journal
Hengel, Holger; Bosso-Lefèvre, Célia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Élise; Tan, Thong-Teck; Eio, Michelle Y; Narayanan, Gunaseelan; Utami, Kagistia Hana; Yau, Monica; Handal, Nader; Deigendesch, Werner; Keimer, Reinhard; Marzouqa, Hiyam M; Gunay-Aygun, Meral; Muriello, Michael J; Verhelst, Helene; Weckhuysen, Sarah; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michèl AAP; Oegema, Renske; Mitchell, Wendy G; Pierson, Tyler Mark; Andrews, Marisa V; Willing, Marcia C; Rodan, Lance H; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M; Hashem, Mais O; AlSayed, Moeenaldeen D; Abdulrahim, Maha M; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel AH; Faqeih, Eissa A; Asmari, Ali Al; Algain, Sulwan M; Jad, Lamyaa A; Aldhalaan, Hesham M; Helbig, Ingo; Koolen, David A; Riess, Angelika; Kraegeloh-Mann, Ingeborg; Bauer, Peter; Gulsuner, Suleyman; Stamberger, Hannah; Ng, Alvin Yu Jin; Tang, Sha; Tohari, Sumanty; Keren, Boris; Schultz-Rogers, Laura E; Klee, Eric W; Barresi, Sabina; Tartaglia, Marco; Mor-Shaked, Hagar; Maddirevula, Sateesh; Begtrup, Amber; Telegrafi, Aida; Pfundt, Rolph; Schüle, Rebecca; Ciruna, Brian; Bonnard, Carine; Pouladi, Mahmoud A; Stewart, James C; Claridge-Chang, Adam; Lefeber, Dirk J; Alkuraya, Fowzan S; Mathuru, Ajay S; Venkatesh, Byrappa; Barycki, Joseph J; Simpson, Melanie A; Jamuar, Saumya S; Schöls, Ludger; Reversade, Bruno
Nature communications. 11(1)
Academic Journal
Mullegama, Sureni V.; Kiernan, Kaitlyn A.; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T.; Engleman, Kendra; Rush, Eric T.; Blocker, Karli; Dipple, Katrina M.; Fettig, Veronica M.; Hare, Heather; Glass, Ian; Grange, Dorothy K.; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E.; Thies, Jenny; Merritt II, J. Lawrence; Muller II, Eric; Osmond, Matthew; Sawyer, Sarah L.; Slaugh, Rachel; Hickey, Rachel E.; Wolf, Barry; Choudhary, Sanjeev; Simonovic, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M.; Morrow, Michelle M.; Monaghan, Kristin G.; Yang, Jun; Juusola, Jane; Care4Rare Canada Consortium; Undiagnosed Dis Network
Academic Journal
Andrew K. Sobering; Laura M. Bryant; Dong Li; Julie McGaughran; Isabelle Maystadt; Stephanie Moortgat; John M. Graham, Jr.; Arie van Haeringen; Claudia Ruivenkamp; Roos Cuperus; Julie Vogt; Jenny Morton; Charlotte Brasch-Andersen; Maria Steenhof; Lars Kjærsgaard Hansen; Élodie Adler; Stanislas Lyonnet; Veronique Pingault; Marlin Sandrine; Alban Ziegler; Tyhiesia Donald; Beverly Nelson; Brandon Holt; Oleksandra Petryna; Helen Firth; Kirsty McWalter; Jacob Zyskind; Aida Telegrafi; Jane Juusola; Richard Person; Michael J. Bamshad; Dawn Earl; Anne Chun-Hui Tsai; Katherine R. Yearwood; Elysa Marco; Catherine Nowak; Jessica Douglas; Hakon Hakonarson; Elizabeth J. Bhoj
HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)
Academic Journal
May, Halie J.; Jeong, Jaehoon; Revah-Politi, Anya; Cohen, Julie S.; Chassevent, Anna; Baptista, Julia; Baugh, Evan H.; Bier, Louise; Bottani, Armand; Carminho A. Rodrigues, Maria Teresa; Conlon, Charles; Fluss, Joel; Guipponi, Michel; Kim, Chong Ae; Matsumoto, Naomichi; Person, Richard; Primiano, Michelle; Rankin, Julia; Shinawi, Marwan; Smith-Hicks, Constance; Telegrafi, Aida; Toy, Samantha; Uchiyama, Yuri; Aggarwal, Vimla; Goldstein, David B.; Roche, Katherine W.; Anyane-Yeboa, Kwame
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(10):1912-1921
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