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Van Dijck, A; Vulto-van Silfhout, AT; Cappuyns, E; van der Werf, IM; Mancini, GM; Tzschach, A; Bernier, R; Gozes, I; Eichler, EE; Romano, C; Lindstrand, A; Nordgren, A; Kvarnung, M; Kleefstra, T; de Vries, BBA; Kury, S; Rosenfeld, JA; Meuwissen, ME; Vandeweyer, G; Kooy, RF; Bakshi, M; Wilson, M; Berman, Y; Dickson, R; Fransen, E; Helsmoortel, C; Van den Ende, J; Van der Aa, N; van de Wijdeven, MJ; Rosenblum, J; Monteiro, F; Kok, F; Quercia, N; Bowdin, S; Dyment, D; Chitayat, D; Alkhunaizi, E; Boonen, SE; Keren, B; Jacquette, A; Faivre, L; Bezieau, S; Isidor, B; Riess, A; Moog, U; Lynch, SA; McVeigh, T; Elpeleg, O; Smeland, MF; Fannemel, M; van Haeringen, A; Maas, SM; Veenstra-Knol, HE; Schouten, M; Willemsen, MH; Marcelis, CL; Ockeloen, C; van der Burgt, I; Feenstra, I; van der Smagt, J; Jezela-Stanek, A; Krajewska-Walasek, M; Gonzalez-Lamuno, D; Anderlid, BM; Malmgren, H; Nordenskjold, M; Clement, E; Hurst, J; Metcalfe, K; Mansour, S; Lachlan, K; Clayton-Smith, J; Hendon, LG; Abdulrahman, OA; Morrow, E; McMillan, C; Gerdts, J; Peeden, J; Vergano, SAS; Valentino, C; Chung, WK; Ozmore, JR; Bedrosian-Sermone, S; Dennis, A; Treat, K; Hughes, SS; Safina, N; Le Pichon, JB; McGuire, M; Infante, E; Madan-Khetarpal, S; Desai, S; Benke, P; Krokosky, A; Cristian, I; Baker, L; Gripp, K; Stessman, HA; Eichenberger, J; Jayakar, P; Pizzino, A; Manning, MA; Slattery, L
Biological psychiatry. 85(4):287-297
Electronic Resource
Deden, C; Neveling, K; Zafeiropopoulou, D; Gilissen, C; Pfundt, R; Rinne, T; de Leeuw, N; Faas, B; Gardeitchik, T; Sallevelt, SCEH; Paulussen, A; Stevens, SJC; Sikkel, E; Elting, MW; van Maarle, MC; Diderich, Karin; Corsten-Janssen, N; Lichtenbelt, KD; Lachmeijer, G; Vissers, LELM; Yntema, HG; Nelen, M; Feenstra, I; van Zelst-Stams, W A G
Deden , C , Neveling , K , Zafeiropopoulou , D , Gilissen , C , Pfundt , R , Rinne , T , de Leeuw , N , Faas , B , Gardeitchik , T , Sallevelt , SCEH , Paulussen , A , Stevens , SJC , Sikkel , E , Elting , MW , van Maarle , MC , Diderich , K , Corsten-Janssen , N , Lichtenbelt , KD , Lachmeijer , G , Vissers , LELM , Yntema , HG , Nelen , M , Feenstra , I & van Zelst-Stams , W A G 2020 , ' Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging ' , Prenatal Diagnosis , vol. 40 , no. 8 , pp. 972-983 .
Electronic Resource
Wesdorp, M; Gans, P; Schraders, M; Oostrik, J; Huynen, MA; Venselaar, H; Beynon, AJ; van Gaalen, J; Piai, V; Voermans, N; van Rossum, MM; Hartel, B P; Lelieveld, SH; Wiel, L; Verbist, B; Rotteveel, LJ; van Dooren, Marieke; Lichtner, P; Kunst, HPM; Feenstra, I; Admiraal, RJC; Yntema, HG; Hoefsloot, EH; Pennings, RJE; Kremer, H
Wesdorp , M , Gans , P , Schraders , M , Oostrik , J , Huynen , MA , Venselaar , H , Beynon , AJ , van Gaalen , J , Piai , V , Voermans , N , van Rossum , MM , Hartel , B P , Lelieveld , SH , Wiel , L , Verbist , B , Rotteveel , LJ , van Dooren , M , Lichtner , P , Kunst , HPM , Feenstra , I , Admiraal , RJC , Yntema , HG , Hoefsloot , EH , Pennings , RJE & Kremer , H 2018 , ' Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction ' , Human Genetics , vol. 137 , no. 5 , pp. 389-400 .
Electronic Resource
Opstal, D; van Maarle, MC; Lichtenbelt, K; Weiss, MM; Schuring-Blom, H; Bhola, SL; Hoffer, MJV; van Amsterdam, K; Macville, MV; Kooper, AJA; Faas, BHW; Govaerts, LCP; Tan-Sindhunata, GM; den Hollander, N; Feenstra, I; Galjaard, Robert-Jan; Oepkes, D; Ghesquiere, S; Brouwer, Rutger; Beulen, L; Bollen, S; Elferink, MG; Straver, R; Henneman, L; Page-Christiaens, GC; Sistermans, EA
Opstal , D , van Maarle , MC , Lichtenbelt , K , Weiss , MM , Schuring-Blom , H , Bhola , SL , Hoffer , MJV , van Amsterdam , K , Macville , MV , Kooper , AJA , Faas , BHW , Govaerts , LCP , Tan-Sindhunata , GM , den Hollander , N , Feenstra , I , Galjaard , R-J , Oepkes , D , Ghesquiere , S , Brouwer , R , Beulen , L , Bollen , S , Elferink , MG , Straver , R , Henneman , L , Page-Christiaens , GC & Sistermans , EA 2018 , ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study ' , Genetics in Medicine , vol. 20 , no. 5 , pp. 480-485 .
Electronic Resource
Kerkhof, Noortje; Feenstra, I; van der Heijden, FMMA; de Leeuw, N; Pfundt, R; Stober, G; Egger, JIM; Verhoeven, Willem
Kerkhof , N , Feenstra , I , van der Heijden , FMMA , de Leeuw , N , Pfundt , R , Stober , G , Egger , JIM & Verhoeven , W 2012 , ' Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice? ' , Neuropsychiatric Disease and Treatment , vol. 8 , pp. 295-300 .
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