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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Title: Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
Authors: Demidov, GermanAff1, Aff2, IDs41525024004366_cor1; Yaldiz, BurcuAff3, Aff4; Garcia-Pelaez, JoséAff5, Aff6, Aff7; de Boer, ElkeAff3, Aff8, Aff9; Schuermans, NikaAff10; Van de Vondel, LiedeweiAff11, Aff12; Paramonov, IdaAff13, Aff14; Johansson, Lennart F.Aff15; Musacchia, FrancescoAff16, Aff17; Benetti, ElisaAff18; Bullich, GemmaAff13, Aff14; Sablauskas, KarolisAff3, Aff19; Beltran, SergiAff13, Aff14, Aff20; Gilissen, ChristianAff3; Hoischen, AlexanderAff3, Aff21, Aff22; Ossowski, StephanAff1, Aff2; de Voer, RichardaAff3, Aff23; Lohmann, KatjaAff24; Oliveira, CarlaAff5, Aff6, Aff7; Topf, AnaAff25; Vissers, Lisenka E. L. M.Aff3, Aff8; Laurie, StevenAff13, Aff14, IDs41525024004366_cor23; Riess, OlafAff1, Aff26; Haack, Tobias B.Aff1, Aff26; Graessner, HolmAff1, Aff26; Zurek, BirteAff1, Aff26; Ellwanger, KorneliaAff1, Aff26; Sturm, MarcAff1; Park, JoohyunAff1; Schütz, LeonAff1; Schulze-Hentrich, Julia M.Aff1, Aff27; Schüle, RebeccaAff28, Aff29; Xu, JishuAff28, Aff30; Kellner, MelanieAff28, Aff30; Resch, BaptistAff29; Kolen, IngridAff29; Synofzik, MatthisAff28, Aff30; Wilke, CarloAff28, Aff30; Traschütz, AndreasAff28, Aff30; Beijer, DaniqueAff31; Heutink, PeterAff28, Aff30; Schöls, LudgerAff28, Aff30; Hengel, HolgerAff28, Aff30; Lerche, HolgerAff32; Boßelmann, ChristianAff32; Kegele, JosuaAff32; Lauerer-Braun, RobertAff32; Lauxmann, StephanAff32; Brunner, HanAff3, Aff4, Aff8; Scheffer, HansAff3, Aff8; Hoogerbrugge, NicolineAff3, Aff21; ’t Hoen, Peter A. C.Aff21, Aff33; Steyaert, WouterAff3, Aff21; de Voer, RichardaAff3, Aff23; Kamsteeg, Erik-JanAff3; van de Warrenburg, BartAff8, Aff34; van Os, NienkeAff8, Aff34; Paske, Iris teAff3, Aff21; Janssen, ErikAff3, Aff21; Steehouwer, MarloesAff3; Neveling, KorneliaAff3; van der Sanden, BartAff3; Sagath, LydiaAff3; Kleefstra, TjitskeAff3, Aff8; Brookes, Anthony J.Aff35; Gibson, SpencerAff35; Riaz, UmarAff35; Warren, GregAff35; Nalagandla, Sai AnuhyaAff35; Wang, Yunze PatrickAff35; Sukumaran, DeepthiAff35; Abadijou, SadeghAff35; Straub, VolkerAff25; Bettolo, Chiara MariniAff25; Manera, Jordi DiazAff25; Hambleton, SophieAff36; Engelhardt, KarinAff36; Clayton-Smith, JillAff37, Aff38; Banka, SiddharthAff37, Aff38; Alexander, ElizabethAff38; Jackson, AdamAff37, Aff38; Faivre, LaurenceAff39, Aff40, Aff41, Aff42, Aff43; Thauvin, ChristelAff39, Aff40, Aff41, Aff42, Aff43; Vitobello, AntonioAff41; Denommé-Pichon, Anne-SophieAff41; Duffourd, YannisAff41, Aff42; Bruel, Ange-LineAff41; Couturier, VictorAff41; Gut, Ivo GlynneAff13, Aff14; Piscia, DavideAff13; Matalonga, LeslieAff13, Aff14; Papakonstantinou, AnastasiosAff13, Aff14; Corvo, AlbertoAff13, Aff14; Fernandez-Callejo, MarcosAff13, Aff14; Hernández, CarlesAff13, Aff14; Picó, DanielAff13, Aff14; Codina, Anna EsteveAff13, Aff44; Dabad, MarcAff13; Gut, MartaAff13, Aff44; Raineri, EmanueleAff13; Gumus, GulcinAff45; Bros-Facer, VirginieAff46; Rath, AnaAff47; Hanauer, MarcAff47; Lagorce, DavidAff47; Hongnat, OscarAff47; Chahdil, MarouaAff47; Lucano, CaterinaAff47; Lebreton, EmelineAff47; Stevanin, GiovanniAff48, Aff49; Durr, AlexandraAff48, Aff50; Davoine, Claire-SophieAff48; Guillot-Noel, LénaAff48; Heinzmann, AnnaAff48, Aff50; Coarelli, GiuliaAff48, Aff50; Bonne, GisèleAff51; Evangelista, TeresinhaAff51, Aff52; Allamand, ValérieAff51; Nelson, IsabelleAff51; Ben Yaou, RabahAff51, Aff52, Aff53; Metay, CorinneAff51, Aff54; Eymard, BrunoAff51, Aff52; Cohen, EnzoAff51; Atalaia, AntonioAff51; Stojkovic, TanyaAff51, Aff52; Macek, MilanAff55; Turnovec, MarekAff55; Thomasová, DanaAff55; Kremliková, Radka PourováAff55; Franková, VeraAff55; Havlovicová, MarkétaAff55; Ryba, LukášAff55; Lišková, PetraAff56, Aff57; Doležalová, PavlaAff58; Krebsová, AliceAff59; Parkinson, HelenAff60; Keane, ThomasAff60; Freeberg, MalloryAff60; Thomas, ColineAff60; Spalding, DylanAff60, Aff61; Robinson, PeterAff62, Aff63; Danis, DanielAff62; Robert, GlennAff64; Costa, AlessiaAff65; Hanna, MikeAff66; Houlden, HenryAff67; Reilly, MaryAff66; Vandrovcova, JanaAff67; Efthymiou, StephanieAff67; Morsy, HebaAff67, Aff68; Cali, ElisaAff67; Magrinelli, FrancescaAff69; Sisodiya, Sanjay M.Aff70; Bellampalli, RavishankaraAff70; Moloney, PatrickAff70; Rohrer, JonathanAff71; Muntoni, FrancescoAff72, Aff73; Zaharieva, IrinaAff72; Sarkozy, AnnaAff72; Perry, LukeAff72, Aff73; Pini, VeronicaAff72; Müller, JulianeAff72; Timmerman, VincentAff12, Aff74; Baets, JonathanAff11, Aff75; de Vries, GeertAff11, Aff12; De Winter, JonathanAff11, Aff12, Aff75; de Jonghe, PeterAff12, Aff75; Van de Vondel, LiedeweiAff11, Aff12; De Ridder, WillemAff11, Aff12, Aff75; Weckhuysen, SarahAff11, Aff75, Aff76; Stamberger, HannahAff75, Aff76; Millevert, CharissaAff75, Aff76; Smal, NoorAff76; Nigro, VincenzoAff17, Aff77; Morleo, ManuelaAff17, Aff77; Pinelli, MicheleAff17; Banfi, SandroAff17, Aff77; Torella, AnnalauraAff17, Aff77; Zeuli, RobertaAff77; Zanobio, MariateresaAff77; Piluso, GiulioAff77; Ferlini, AlessandraAff78; Selvatici, RitaAff78; Gualandi, FrancescaAff78; Bigoni, StefaniaAff78; Neri, MarcellaAff78; Aretz, StefanAff79, Aff80; Spier, IsabelAff79, Aff80; Sommer, Anna KatharinaAff79; Peters, SophiaAff79; Barbosa-Matos, RitaAff5, Aff6; José, Celina SãoAff5, Aff6; Ferreira, MartaAff5, Aff6; Gullo, IreneAff5, Aff6, Aff7, Aff81; Fernandes, SusanaAff82; Garrido, LuziaAff81; Ferreira, PedroAff5, Aff6, Aff83; Carneiro, FátimaAff5, Aff6, Aff7, Aff81; Swertz, Morris A.Aff15; van der Velde, Joeri K.Aff15; van der Vries, GerbenAff15; Neerincx, Pieter B.Aff15; Roelofs-Prins, DieuwkeAff15; Ruvolo, DavidAff15; van Gijn, MarielleAff84, Aff85; Abbott, Kristin M.Aff84; Kerstjens Frederikse, Wilhemina S.Aff84; Zonneveld-Huijssoon, EvelineAff84; Köhler, SebastianAff86; Metcalfe, AlisonAff64, Aff87; Moore, RichardAff88; Verloes, AlainAff89, Aff90; Drunat, SéverineAff89, Aff90; Heron, DelphineAff91, Aff92; Mignot, CyrilAff91, Aff93; Keren, BorisAff91; de Sainte Agathe, Jean-MadeleineAff91; Jamra, Rami AbouAff94; Abramowicz, MarcAff95, Aff96; Kiliçarslan, Özge AkselAff97; Allen, NicholasAff98; Javier Alonso García de la Rosa, FranciscoAff99; Balestrini, SimonaAff100; Balicza, PeterAff101; Bartolomaeus, TobiasAff94; Başak, Ayşe NazlAff102; Masó, Laura BatlleAff103, Aff104; Beeson, DavidAff105; Benoit, ValerieAff106; Benson, KatherineAff107; Sánchez, Eva BermejoAff99; Bijlsma, Emilia K.Aff108; Bogaert, ElkeAff10; Bourbouli, MaraAff109; Boztug, KaanAff110, Aff111, Aff112, Aff113, Aff114; Brohée, SylvainAff106; Byrne, SusanAff115, Aff116, Aff117; Garcia de Oteyza, Andrés CaballeroAff118, Aff119; Capella, GabrielAff120, Aff121; Carpancea, EvelinaAff122; Cavalleri, GianpieroAff107, Aff115, Aff123; Cazurro-Gutiérrez, AnaAff124; Chinnery, Patrick F.Aff125, Aff126; Cilio, Maria-RobertaAff122; Ciolfi, AndreaAff127; Claeys, KristlAff128, Aff129; Colobran, RogerAff130, Aff131, Aff132; Cordts, IsabellAff133; Cossins, JudithAff105; Dahan, KarinAff106, Aff134; Dallapiccola, BrunoAff127; Delanty, NormanAff107, Aff115, Aff135; Depienne, ChristelAff136, Aff137; Depondt, ChantalAff138; Dermaut, BartAff10, Aff139, Aff140; Deschauer, MarcusAff133; Desir, JulieAff106; Destrée, AnneAff106; Drakos, MinasAff109; Duerinckx, SarahAff138; Estevez, BertaAff141, Aff142; Evangeliou, AthanasiosAff143; Fallerini, ChiaraAff18, Aff144; Ferilli, MarcoAff127; Furini, SimoneAff18, Aff144; Gagneur, JulienAff145, Aff146, Aff147; Ghani, HamidahAff107, Aff115, Aff123; Greally, MarieAff107, Aff115, Aff148; Grimbacher, BodoAff118, Aff119, Aff149, Aff150, Aff151; Guerrini, RenzoAff152; Hackman, PeterAff153; Haimel, MatthiasAff110, Aff111, Aff112; Bouveret, Eva HammarAff95; Hemelsoet, DimitriAff139, Aff154; Herzog, RebeccaAff155, Aff156; Hoffer, Mariette J. V.Aff108; Holinski-Feder, ElkeAff157; Horvath, RitaAff125; Huibers, ManonAff158; Iacomino, MicheleAff159, Aff160; Johari, MridulAff153; Kapaki, ElisabethAff161; Karadurmus, DenizAff106; Karakaya, MertAff162, Aff163, Aff164, Aff165; Kokosali, EvgeniaAff109; Korff, ChristianAff166; Krass, LeonAff145, Aff146, Aff147; Lacombe, DidierAff167; Laner, AndreasAff168; Leavis, HelenAff169; Lederer, DamienAff170; Leitão, ElsaAff136; Lochmüller, HannsAff97, Aff171, Aff172; Martín, Estrella LópezAff99; Luknárová, RebekaAff145; Macaya, AlfonsAff124, Aff173; Malaichamy, SivasankarAff97; Marcé-Grau, AnnaAff124; Delgado, Beatriz MartínezAff99; Mary, SandrineAff170; Masclaux, FrédéricAff95; Mathioudakis, LambrosAff109; Maver, AlesAff174; May, PatrickAff175; Maystadt, IsabelleAff106, Aff176; Mei, DavideAff100; Mertes, ChristianAff145, Aff146; Meunier, ColombineAff106; Molnar, Maria JuditAff101; Monestier, OlivierAff106; Moortgat, StéphanieAff106; Münchau, AlexanderAff155, Aff177; Munell, FrancinaAff124; Osorio, Andrés NascimentoAff141, Aff178, Aff179; de Benito, Daniel NateraAff141, Aff178, Aff179; Reghan, Mary O.Aff117; Olimpio, CatarinaAff125, Aff180; Parrini, ElenaAff100; Pauly, MartjeAff24, Aff155; Pérez-Dueñas, BelénAff124; Peterlin, BorutAff174; Platzer, KonradAff94; Polavarapu, KiranAff97; Poppe, BruceAff10, Aff139, Aff140; De la Paz, Manuel PosadaAff99; Privitera, FlaviaAff18, Aff144; Radio, Francesca ClementinaAff127; Ratnaike, ThilokaAff181; Renieri, AlessandraAff18, Aff144, Aff182; Riva, AntonellaAff159, Aff183; Rooryck, CarolineAff167; Roos, AndreasAff97, Aff184; Ruivenkamp, Claudia A. L.Aff108; Rump, AndreasAff185, Aff186; Santen, Gijs W. E.Aff108; Savarese, MarcoAff153; Scala, MarcelloAff183, Aff187; Schon, KatherineAff125, Aff180; Schröck, EvelinAff185; Scudieri, PaoloAff159, Aff183; Spilioti, MarthaAff188; Steinke-Lange, VerenaAff157; Striano, PasqualeAff183, Aff189; Sznajer, YvesAff190; Tartaglia, MarcoAff127; Thompson, RachelAff97; Trimouille, AurelienAff191; Udd, BjarneAff153, Aff192, Aff193; Uva, PaoloAff160; Valle, LauraAff120, Aff121; van der Veken, LarsAff158; van Heurck, RoxaneAff95; van Montfrans, JorisAff194; Van Nieuwenhove, ErikaAff194; Verdin, HannahAff10; Webb, DavidAff117; Wirth, BrunhildeAff162, Aff163, Aff164, Aff165; Yépez, Vicente A.Aff145; Zaganas, IoannisAff109; Zara, FedericoAff159, Aff183; Zguro, KristinaAff18, Aff144
Source: npj Genomic Medicine. 9(1)
Database: Springer Nature Journals