학술논문
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'학술논문'
에서 검색결과 130건 | 목록
1~20
Academic Journal
Richelle A. C. M. Olde Keizer; Abderrahim Marouane; Wilhelmina S. Kerstjens-Frederikse; A. Chantal Deden; Klaske D. Lichtenbelt; Tinneke Jonckers; Marieke Vervoorn; Maaike Vreeburg; Lidewij Henneman; Linda S. de Vries; Richard J. Sinke; Rolph Pfundt; Servi J. C. Stevens; Peter Andriessen; Richard A. van Lingen; Marcel Nelen; Hans Scheffer; Daphne Stemkens; Cor Oosterwijk; Hans Kristian Ploos van Amstel; Willem P. de Boode; Wendy A. G. van Zelst-Stams; Geert W. J. Frederix; Lisenka E. L. M. Vissers; L Henneman; M M van Haelst; E A Sistermans; M C Cornel; M Misra-Isrie; M M A M Mannens; Q Waisfisz; J M van Hagen; A S Brooks; T S Barakat; E H Hoefsloot; R A van Lingen; C A L Ruivenkamp; A van Haeringen; S Koene; G W E Santen; J W Rutten; B de Koning; S J C Stevens; A van den Wijngaard; M Sinnema; A P A Stegmann; M Vreeburg; M Vervoorn; P Andriessen; D Kasteel; E M Adang; A C Deden; H G Brunner; W P de Boode; H G Yntema; H Scheffer; W van Zelst-Stams; R Pfundt; T Kleefstra; A Marouane; L E L M Vissers; T Rigter; W Rodenburg; M A Swertz; V V AM Knoers; W S Kerstjens-Frederikse; R J Sinke; K J van der Velde; I M van Langen; M E van Gijn; J P van Tintelen; L S de Vries; G W J Frederix; J K Ploos van Amstel; K D Lichtenbelt; R A C M Olde Keizer; R Oegema; C Oosterwijk; D Stemkens
Eur J Pediatr
on behalf of RADICON-NL consortium 2023, 'Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands', European Journal of Pediatrics, vol. 182, no. 6, pp. 2683-2692. https://doi.org/10.1007/s00431-023-04909-1
European Journal of Pediatrics, 182, 6, pp. 2683-2692
Eur J Pediatr.
on behalf of RADICON-NL consortium 2023, 'Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands', European Journal of Pediatrics, vol. 182, no. 6, pp. 2683-2692. https://doi.org/10.1007/s00431-023-04909-1
European Journal of Pediatrics, 182, 6, pp. 2683-2692
Eur J Pediatr.
Academic Journal
Prapa, Matina; Lago-Docampo, Mauro; Swietlik, Emilia M; Montani, David; Eyries, Mélanie; Humbert, Marc; Welch, Carrie L; Chung, Wendy K; Berger, Rolf MF; Bogaard, Harm Jan; Danhaive, Olivier; Escribano-Subías, Pilar; Gall, Henning; Girerd, Barbara; Hernandez-Gonzalez, Ignacio; Holden, Simon; Hunt, David; Jansen, Samara MA; Kerstjens-Frederikse, Wilhelmina; Kiely, David G; Lapunzina, Pablo; McDermott, John; Moledina, Shahin; Pepke-Zaba, Joanna; Polwarth, Gary J; Schotte, Gwen; Tenorio-Castaño, Jair; Thompson, AA Roger; Wharton, John; Wort, Stephen J; Megy, Karyn; Mapeta, Rutendo; Treacy, Carmen M; Martin, Jennifer M; Li, Wei; Swift, Andrew J; Upton, Paul D; Morrell, Nicholas W; Gräf, Stefan; Valverde, Diana; NIHR BioResource For Translational Research–Rare Diseases; National Cohort Study Of Idiopathic And Heritable PAH; PAH Biobank Enrolling Centers’ Investigators
Am J Respir Crit Care Med
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
NIHR BioResource for Translational Research-Rare Diseases32, National Cohort Study of Idiopathic and Heritable PAH33 & PAH Biobank Enrolling Centers' Investigators33 2022, 'First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease', American Journal of Respiratory and Critical Care Medicine, vol. 206, no. 12, pp. 1522-1533. https://doi.org/10.1164/rccm.202203-0485OC
American journal of respiratory and critical care medicine, Vol. 206, no.12, p. 1522-1533 (2022)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
NIHR BioResource for Translational Research-Rare Diseases32, National Cohort Study of Idiopathic and Heritable PAH33 & PAH Biobank Enrolling Centers' Investigators33 2022, 'First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease', American Journal of Respiratory and Critical Care Medicine, vol. 206, no. 12, pp. 1522-1533. https://doi.org/10.1164/rccm.202203-0485OC
American journal of respiratory and critical care medicine, Vol. 206, no.12, p. 1522-1533 (2022)
Academic Journal
Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; null, null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De la Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
Academic Journal
Castilla-Vallmanya L.; Selmer K. K.; Dimartino C.; Rabionet R.; Blanco-Sanchez B.; Yang S.; Reijnders M. R. F.; van Essen A. J.; Oufadem M.; Vigeland M. D.; Stadheim B.; Houge G.; Cox H.; Kingston H.; Clayton-Smith J.; Innis J. W.; Iascone M.; Cereda A.; Gabbiadini S.; Chung W. K.; Sanders V.; Charrow J.; Bryant E.; Millichap J.; Vitobello A.; Thauvin C.; Mau-Them F. T.; Faivre L.; Lesca G.; Labalme A.; Rougeot C.; Chatron N.; Sanlaville D.; Christensen K. M.; Kirby A.; Lewandowski R.; Gannaway R.; Aly M.; Lehman A.; Clarke L.; Graul-Neumann L.; Zweier C.; Lessel D.; Lozic B.; Aukrust I.; Peretz R.; Stratton R.; Smol T.; Dieux-Coeslier A.; Meira J.; Wohler E.; Sobreira N.; Beaver E. M.; Heeley J.; Briere L. C.; High F. A.; Sweetser D. A.; Walker M. A.; Keegan C. E.; Jayakar P.; Shinawi M.; Kerstjens-Frederikse W. S.; Earl D. L.; Siu V. M.; Reesor E.; Yao T.; Hegele R. A.; Vaske O. M.; Rego S.; Shapiro K. A.; Wong B.; Gambello M. J.; McDonald M.; Karlowicz D.; Colombo R.; Serretti A.; Pais L.; O'Donnell-Luria A.; Wray A.; Sadedin S.; Chong B.; Tan T. Y.; Christodoulou J.; White S. M.; Slavotinek A.; Barbouth D.; Morel Swols D.; Parisot M.; Bole-Feysot C.; Nitschke P.; Pingault V.; Munnich A.; Cho M. T.; Cormier-Daire V.; Balcells S.; Lyonnet S.; Grinberg D.; Amiel J.; Urreizti R.; Gordon C. T.
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
instname
Genetics in Medicine, vol 22, iss 7
Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
instname
Genetics in Medicine, vol 22, iss 7
Academic Journal
Le, Thuy-Linh; Sribudiani, Yunia; Dong, Xiaomin; Huber, Céline; Kois, Chelsea; Baujat, Geneviève; Gordon, Christopher T.; Mayne, Valerie; Galmiche, Louise; Serre, Valérie; Goudin, Nicolas; Zarhrate, Mohammed; Bole-Feysot, Christine; Masson, Cécile; Nitschké, Patrick; Verheijen, Frans W.; Pais, Lynn; Pelet, Anna; Sadedin, Simon; Pugh, John A.; Shur, Natasha; White, Susan M.; El Chehadeh, Salima; Christodoulou, John; Cormier-Daire, Valérie; Hofstra, R.M.W.; Lyonnet, Stanislas; Tan, Tiong Yang; Attié-Bitach, Tania; Kerstjens-Frederikse, Wilhelmina S.; Amiel, Jeanne; Thomas, Sophie
The American Journal of Human Genetics. 106:779-792
Academic Journal
Verhagen, Judith M.A. ; Kempers, Marlies ; Cozijnsen, Luc ; Bouma, Berto J. ; Duijnhouwer, Anthonie L. ; Post, Jan G. ; Hilhorst-Hofstee, Yvonne ; Bekkers, Sebastiaan C.A.M. ; Kerstjens-Frederikse, Wilhelmina S. ; van Brakel, Thomas J. ; Lambermon, Eric ; Wessels, Marja W. ; Loeys, Bart L. ; Roos-Hesselink, Jolien W. ; van de Laar, Ingrid M.B.H.
In International Journal of Cardiology 1 May 2018 258:243-248
Academic Journal
Brigitte W. M. Willemse; Saskia N. van der Crabben; Wilhelmina S. Kerstjens-Frederikse; Wim Timens; Joris M. van Montfrans; Caroline A. Lindemans; Jaap Jan Boelens; Marije P. Hennus; Gijs van Haaften
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Academic Journal
Škorić-Milosavljević, Doris; Tadros, Rafik; Bosada, Fernanda M.; Tessadori, Federico; van Weerd, Jan Hendrik; Woudstra, Odilia I.; Tjong, Fleur V.Y.; Lahrouchi, Najim; Bajolle, Fanny; Cordell, Heather J.; Agopian, A.J.; Blue, Gillian M.; Barge-Schaapveld, Daniela Q.C.M.; Gewillig, Marc; Preuss, Christoph; Lodder, Elisabeth M.; Barnett, Phil; Ilgun, Aho; Beekman, Leander; van Duijvenboden, Karel; Bokenkamp, Regina; Müller-Nurasyid, Martina; Vliegen, Hubert W.; Konings, Thelma C.; van Melle, Joost P.; van Dijk, Arie P.J.; van Kimmenade, Roland R.J.; Roos-Hesselink, Jolien W.; Sieswerda, Gertjan T.; Meijboom, Folkert; Abdul-Khaliq, Hashim; Berger, Felix; Dittrich, Sven; Hitz, Marc-Phillip; Moosmann, Julia; Riede, Frank-Thomas; Schubert, Stephan; Galan, Pilar; Lathrop, Mark; Munter, Hans M.; Al-Chalabi, Ammar; Shaw, Christopher E.; Shaw, Pamela J.; Morrison, Karen E.; Veldink, Jan H.; van den Berg, Leonard H.; Evans, Sylvia; Nobrega, Marcelo A.; Aneas, Ivy; Radivojkov-Blagojević, Milena; Meitinger, Thomas; Oechslin, Erwin; Mondal, Tapas; Bergin, Lynn; Smythe, John F.; Altamirano-Diaz, Luis; Lougheed, Jane; Bouma, Berto J.; Chaix, Marie-A.; Kline, Jennie; Bassett, Anne S.; Andelfinger, Gregor; van der Palen, Roel L.F.; Bouvagnet, Patrice; Clur, Sally-Ann B.; Breckpot, Jeroen; Kerstjens-Frederikse, Wilhelmina S.; Winlaw, David S.; Bauer, Ulrike M.M.; Mital, Seema; Goldmuntz, Elizabeth; Keavney, Bernard; Bonnet, Damien; Mulder, Barbara J.; Tanck, Michael W.T.; Bakkers, Jeroen; Christoffels, Vincent M.; Boogerd, Cornelis J.; Postma, Alex V.; Bezzina, Connie R.
Circulation Research. Jan 21, 2022 130(2):166-180
Academic Journal
Yntema, Helger G.; Feenstra, Ilse; Faas, Brigitte H. W.; Sinnema, Margje; Gerrits, Monique; Kriek, Marjolein; Ruivenkamp, Claudia; Elting, Mariet W.; Waisfisz, Quinten; Polstra, Abeltje; van Binsbergen, Ellen; Lichtenbelt, Klaske; Huijsdens-van Amsterdam, Karin; Kerstjens-Frederikse, Wilhelmina S.; Sikkema-Raddatz, Birgit; Hogervorst, Frans; Giesbertz, Noor; Bruggenwirth, Hennie; Srebniak, Malgorzata I.; Stemkens, Daphne; van der Schoot, Vyne
Academic Journal
Denomme-Pichon A. -S.; Bruel A. -L.; Duffourd Y.; Safraou H.; Thauvin-Robinet C.; Tran Mau-Them F.; Philippe C.; Vitobello A.; Jean-Marcais N.; Moutton S.; Thevenon J.; Faivre L.; Matalonga L.; de Boer E.; Gilissen C.; Hoischen A.; Kleefstra T.; Pfundt R.; de Vries B. B. A.; Willemsen M. H.; Vissers L. E. L. M.; Jackson A.; Banka S.; Clayton-Smith J.; Benetti E.; Fallerini C.; Renieri A.; Ciolfi A.; Dallapiccola B.; Pizzi S.; Radio F. C.; Tartaglia M.; Ellwanger K.; Graessner H.; Haack T. B.; Zurek B.; Havlovicova M.; Macek M.; Ryba L.; Schwarz M.; Votypka P.; Martin E. L.; Posada M.; Mencarelli M. A.; Rooryck C.; Trimouille A.; Verloes A.; Abbott K. M.; Kerstjens M.; Maystadt I.; Morleo M.; Nigro V.; Pinelli M.; Riess O.; Agathe J. -M. D. S.; Santen G. W. E.; Thauvin C.; Torella A.; Vissers L.; Zguro K.; Boer E. D.; Cohen E.; Danis D.; Gao F.; Horvath R.; Johari M.; Johanson L.; Li S.; Morsy H.; Nelson I.; Paramonov I.; te Paske I. B. A. W.; Robinson P.; Savarese M.; Steyaert W.; Topf A.; van der Velde J. K.; Vandrovcova J.; Ossowski S.; Demidov G.; Sturm M.; Schulze-Hentrich J. M.; Schule R.; Xu J.; Kessler C.; Wayand M.; Synofzik M.; Wilke C.; Traschutz A.; Schols L.; Hengel H.; Lerche H.; Kegele J.; Heutink P.; Brunner H.; Scheffer H.; Hoogerbrugge N.; 't Hoen P. A. C.; Sablauskas K.; de Voer R. M.; Kamsteeg E. -J.; van de Warrenburg B.; van Os N.; Paske I. T.; Janssen E.; Steehouwer M.; Yaldiz B.; Brookes A. J.; Veal C.; Gibson S.; Maddi V.; Mehtarizadeh M.; Riaz U.; Warren G.; Dizjikan F. Y.; Shorter T.; Straub V.; Bettolo C. M.; Manera J. D.; Hambleton S.; Engelhardt K.; Alexander E.; Peyron C.; Pelissier A.; Beltran S.; Gut I. G.; Laurie S.; Piscia D.; Papakonstantinou A.; Bullich G.; Corvo A.; Fernandez-Callejo M.; Hernandez C.; Pico D.; Lochmuller H.; Gumus G.; Bros-Facer V.; Rath A.; Hanauer M.; Lagorce D.; Hongnat O.; Chahdil M.; Lebreton E.; Stevanin G.; Durr A.; Davoine C. -S.; Guillot-Noel L.; Heinzmann A.; Coarelli G.; Bonne G.; Evangelista T.; Allamand V.; Ben Yaou R.; Metay C.; Eymard B.; Atalaia A.; Stojkovic T.; Turnovec M.; Thomasova D.; Kremlikova R. P.; Frankova V.; Liskova P.; Dolezalova P.; Parkinson H.; Keane T.; Freeberg M.; Thomas C.; Spalding D.; Robert G.; Costa A.; Patch C.; Hanna M.; Houlden H.; Reilly M.; Efthymiou S.; Cali E.; Magrinelli F.; Sisodiya S. M.; Rohrer J.; Muntoni F.; Zaharieva I.; Sarkozy A.; Timmerman V.; Baets J.; de Vries G.; De Winter J.; Beijer D.; de Jonghe P.; Van de Vondel L.; De Ridder W.; Weckhuysen S.; Mutarelli M.; Varavallo A.; Banfi S.; Musacchia F.; Piluso G.; Ferlini A.; Selvatici R.; Gualandi F.; Bigoni S.; Rossi R.; Neri M.; Aretz S.; Spier I.; Sommer A. K.; Peters S.; Oliveira C.; Pelaez J. G.; Matos A. R.; Jose C. S.; Ferreira M.; Gullo I.; Fernandes S.; Garrido L.; Ferreira P.; Carneiro F.; Swertz M. A.; Johansson L.; van der Vries G.; Neerincx P. B.; Ruvolo D.; Kerstjens Frederikse W. S.; Zonneveld-Huijssoon E.; Roelofs-Prins D.; van Gijn M.; Kohler S.; Metcalfe A.; Drunat S.; Heron D.; Mignot C.; Keren B.; Lacombe D.; Capella G.; Valle L.; Holinski-Feder E.; Laner A.; Steinke-Lange V.; Cilio M. -R.; Carpancea E.; Depondt C.; Lederer D.; Sznajer Y.; Duerinckx S.; Mary S.; Macaya A.; Cazurro-Gutierrez A.; Perez-Duenas B.; Munell F.; Jarava C. F.; Maso L. B.; Marce-Grau A.; Colobran R.; Hackman P.; Udd B.; Hemelsoet D.; Dermaut B.; Schuermans N.; Poppe B.; Verdin H.; Osorio A. N.; Depienne C.; Roos A.; Cordts I.; Deschauer M.; Striano P.; Zara F.; Riva A.; Iacomino M.; Uva P.; Scala M.; Scudieri P.; Basak A. N.; Claeys K.; Boztug K.; Haimel M.; W. E G.; Ruivenkamp C. A. L.; Natera de Benito D.; Thompson R.; Polavarapu K.; Grimbacher B.; Zaganas I.; Kokosali E.; Lambros M.; Evangeliou A.; Spilioti M.; Kapaki E.; Bourbouli M.; Balicza P.; Molnar M. J.; De la Paz M. P.; Sanchez E. B.; Delgado B. M.; Alonso Garcia de la Rosa F. J.; Schrock E.; Rump A.; Mei D.; Vetro A.; Balestrini S.; Guerrini R.; Chinnery P. F.; Ratnaike T.; Schon K.; Maver A.; Peterlin B.; Munchau A.; Lohmann K.; Herzog R.; Pauly M.; May P.; Beeson D.; Cossins J.; Furini S.; Afenjar A.; Goldenberg A.; Masurel A.; Phan A.; Dieux-Coeslier A.; Fargeot A.; Guerrot A. -M.; Toutain A.; Molin A.; Sorlin A.; Putoux A.; Jouret B.; Laudier B.; Demeer B.; Doray B.; Bonniaud B.; Isidor B.; Gilbert-Dussardier B.; Leheup B.; Reversade B.; Paul C.; Vincent-Delorme C.; Neiva C.; Poirsier C.; Quelin C.; Chiaverini C.; Coubes C.; Francannet C.; Colson C.; Desplantes C.; Wells C.; Goizet C.; Sanlaville D.; Amram D.; Lehalle D.; Genevieve D.; Gaillard D.; Zivi E.; Sarrazin E.; Steichen E.; Schaefer E.; Lacaze E.; Jacquemin E.; Bongers E.; Kilic E.; Colin E.; Giuliano F.; Prieur F.; Laffargue F.; Morice-Picard F.; Petit F.; Cartault F.; Feillet F.; Baujat G.; Morin G.; Diene G.; Journel H.; Perthus I.; Lespinasse J.; Alessandri J. -L.; Amiel J.; Martinovic J.; Delanne J.; Albuisson J.; Lambert L.; Perrin L.; Ousager L. B.; Van Maldergem L.; Pinson L.; Ruaud L.; Samimi M.; Bournez M.; Bonnet-Dupeyron M. N.; Vincent M.; Jacquemont M. -L.; Cordier-Alex M. -P.; Gerard-Blanluet M.; Willems M.; Spodenkiewicz M.; Doco-Fenzy M.; Rossi M.; Renaud M.; Fradin M.; Mathieu M.; Holder-Espinasse M. H.; Houcinat N.; Hanna N.; Leperrier N.; Chassaing N.; Philip N.; Boute O.; Van Kien P. K.; Parent P.; Bitoun P.; Sarda P.; Vabres P.; Jouk P. -S.; Touraine R.; El Chehadeh S.; Whalen S.; Marlin S.; Passemard S.; Grotto S.; Bellanger S. A.; Blesson S.; Nambot S.; Naudion S.; Lyonnet S.; Odent S.; Attie-Bitach T.; Busa T.; Drouin-Garraud V.; Layet V.; Bizaoui V.; Cusin V.; Capri Y.; Alembik Y.
Repisalud
Instituto de Salud Carlos III (ISCIII)
Genetics in Medicine, 25, 4
Solve-RD DITF-ITHACA, Solve-RD SNV-indel working group, Solve-RD Consortia, Orphanomix Group, Denommé-Pichon, A-S, Matalonga, L, de Boer, E, Jackson, A, Benetti, E, Banka, S, Bruel, A-L, Ciolfi, A, Clayton-Smith, J, Dallapiccola, B, Duffourd, Y, Ellwanger, K, Fallerini, C, Gilissen, C, Graessner, H, Haack, T B, Havlovicova, M, Hoischen, A, Jean-Marçais, N, Kleefstra, T, López-Martín, E, Macek, M, Mencarelli, M A, Moutton, S, Pfundt, R, Pizzi, S, Posada, M, Radio, F C, Renieri, A, Rooryck, C, Ryba, L, Safraou, H, Tartaglia, M, Thauvin-Robinet, C, Thevenon, J, Mau-Them, F T, Trimouille, A, Votypka, P, de Vries, B B A, Willemsen, M H, Zurek, B, Verloes, A, Philippe, C, Vitobello, A, Vissers, L E L M & Faivre, L 2023, 'A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, 100018. https://doi.org/10.1016/j.gim.2023.100018
GENETICS IN MEDICINE
Genetics in Medicine
Instituto de Salud Carlos III (ISCIII)
Genetics in Medicine, 25, 4
Solve-RD DITF-ITHACA, Solve-RD SNV-indel working group, Solve-RD Consortia, Orphanomix Group, Denommé-Pichon, A-S, Matalonga, L, de Boer, E, Jackson, A, Benetti, E, Banka, S, Bruel, A-L, Ciolfi, A, Clayton-Smith, J, Dallapiccola, B, Duffourd, Y, Ellwanger, K, Fallerini, C, Gilissen, C, Graessner, H, Haack, T B, Havlovicova, M, Hoischen, A, Jean-Marçais, N, Kleefstra, T, López-Martín, E, Macek, M, Mencarelli, M A, Moutton, S, Pfundt, R, Pizzi, S, Posada, M, Radio, F C, Renieri, A, Rooryck, C, Ryba, L, Safraou, H, Tartaglia, M, Thauvin-Robinet, C, Thevenon, J, Mau-Them, F T, Trimouille, A, Votypka, P, de Vries, B B A, Willemsen, M H, Zurek, B, Verloes, A, Philippe, C, Vitobello, A, Vissers, L E L M & Faivre, L 2023, 'A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, 100018. https://doi.org/10.1016/j.gim.2023.100018
GENETICS IN MEDICINE
Genetics in Medicine
Academic Journal
Kerstjens-Frederikse, Wilhelmina S. ; van de Laar, Ingrid M.B.H. ; Vos, Yvonne J. ; Verhagen, Judith M.A. ; Berger, Rolf M.F. ; Lichtenbelt, Klaske D. ; Klein Wassink-Ruiter, Jolien S. ; van der Zwaag, Paul A. ; du Marchie Sarvaas, Gideon J. ; Bergman, Klasien A. ; Bilardo, Catia M. ; Roos-Hesselink, Jolien W. ; Janssen, Johan H.P. ; Frohn-Mulder, Ingrid M. ; van Spaendonck-Zwarts, Karin Y. ; van Melle, Joost P. ; Hofstra, Robert M.W. ; Wessels, M.W.
In Genetics in Medicine September 2016 18(9):914-923
Academic Journal
Maria E. Baardman; Mathijs V. Zwier; Lambertus J. Wisse; Adriana C. Gittenberger-de Groot; Wilhelmina S. Kerstjens-Frederikse; Robert M. W. Hofstra; Angelika Jurdzinski; Beerend P. Hierck; Monique R. M. Jongbloed; Rolf M. F. Berger; Torsten Plösch; Marco C. DeRuiter
Disease Models & Mechanisms, Vol 9, Iss 4, Pp 413-425 (2016)
Academic Journal
Otten, E.; Lekanne dit Deprez, R. H.; Weiss, M. M.; van Slegtenhorst, M.; Joosten, M.; van der Smagt, J. J.; de Jonge, N.; Kerstjens-Frederikse, W. S.; Roofthooft, M. T. R.; Balk, A. H. M. M.; van den Berg, M. P.; Ruiter, J. S.; van Tintelen, J. P.
De Nederlandse gezondheidszorg ISBN: 9789036807043
Academic Journal
L. Corda; Y. A. Wang; E. A. Sullivan; B. Bay; E. L. Mortensen; U. S. Kesmodel; S. C. Braam; N. Weiss; J. P. de Bruin; P. G. A. Hompes; F. van der Veen; M. van Wely; B. W. Mol; M. A. Q. Mutsaerts; L. Tromp; S. Scholtens; W. S. Kerstjens-Frederikse; A. Hoek; H. E. K. De Walle; K. Jayaprakasan; D. Pandian; J. Hopkisson; B. Campbell; W. Maalouf; S. Fiore; J. Kremer; A. G. Huppelschoten; I. W. H. van Empel; E. M. M. Adang; H. Groenewoud; W. L. D. M. Nelen; P. Troude; G. Santin; J. Bouyer; E. d. L. Rochebrochard
Human Reproduction. 28:i356-i359
Academic Journal
Zwijnenburg, P. J.G.; Lakeman, P.; Pfundt, R.; Klein Wassink-Ruiter, J. S.; Kerstjens-Frederikse, W. S.; Van Ravenswaaij-Arts, C. M.A.
Tijdschrift voor Kindergeneeskunde. 82:3-18
Academic Journal
Corsten-Janssen, N; Saitta, S C; Hoefsloot, L H; McDonald-McGinn, D M; Driscoll, D A; Derks, R; Dickinson, K A; Kerstjens-Frederikse, W S; Emanuel, B S; Zackai, E H; van Ravenswaaij-Arts, C M A
Molecular Syndromology. 4:235-245
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Acta Paediatrica. 93:1665-1669
Academic Journal
Kerstjens-Frederikse, Wilhelmina S.; Sarvaas, Gideon J. Du Marchie; Ruiter, Jolien S.; Van den Akker, Peter C.; Temmerman, Arno M.; Van Melle, Joost P.; Hofstra, Robert M. W.; Berger, Rolf M. F.
Heart. 97:1228-1232
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Bakker, Marian K.; Kerstjens-Frederikse, Wilhelmina S.; Buys, Charles H. C. M.; de Walle, Hermien E. K.; de Jong-van den Berg, Lolkje T. W.
Birth Defects Research Part A: Clinical and Molecular Teratology. 88:94-100
Academic Journal
Doornbos, Marianne; Sikkema-Raddatz, Birgit; Ruijvenkamp, Claudia A. L.; Dijkhuizen, Trijnie; Bijlsma, Emilia K.; Gijsbers, Antoinet C. J.; Hilhorst-Hofstee, Yvonne; Hordijk, Roel; Verbruggen, Krijn T.; Kerstjens-Frederikse, W. S. (Mieke); van Essen, Ton; Kok, Klaas; van Silfhout, Anneke T.; Breuning, Martijn; van Ravenswaaij-Arts, Conny M. A.
European Journal of Medical Genetics. 52:108-115
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