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Seco, Celia Zazo, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y., Lelieveld, Stefan H., Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J., Admiraal, Ronald J. C., Pennings, Ronald J. E., Kunst, Henricus P. M., van de Kamp, Jiddeke M., Tamminga, Saskia, Houweling, Arjan C., Plomp, Astrid S., Maas, Saskia M., Gans, Pia A. M. de Koning, Kant, Sarina G., de Geus, Christa M., Frints, Suzanna G. M., Vanhoutte, Els K., van Dooren, Marieke F., van den Boogaard, Marie-Jose H., Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G.
Veröffentlicht in: Seco , C Z , Wesdorp , M , Feenstra , I , Pfundt , R , Hehir-Kwa , J Y , Lelieveld , S H , Castelein , S , Gilissen , C , de Wijs , I J , Admiraal , R J C , Pennings , R J E , Kunst , H P M , van de Kamp , J M , Tamminga , S , Houweling , A C , Plomp , A S , Maas , S M , Gans , P A M D K , Kant , S G , de Geus , C M , Frints , S G M , Vanhoutte , E K , van Dooren , M F , van den Boogaard , M-J H , Scheffer , H , Nelen , M , Kremer , H , Hoefsloot , L , Schraders , M & Yntema , H G 2017 , ' The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands ' , European Journal of Human Genetics , vol. 25 , no. 3 , pp. 308-314 . https://doi.org/10.1038/ejhg.2016.182;
2017
Veröffentlicht in: Seco , C Z , Wesdorp , M , Feenstra , I , Pfundt , R , Hehir-Kwa , J Y , Lelieveld , S H , Castelein , S , Gilissen , C , de Wijs , I J , Admiraal , R J C , Pennings , R J E , Kunst , H P M , van de Kamp , J M , Tamminga , S , Houweling , A C , Plomp , A S , Maas , S M , Gans , P A M D K , Kant , S G , de Geus , C M , Frints , S G M , Vanhoutte , E K , van Dooren , M F , van den Boogaard , M-J H , Scheffer , H , Nelen , M , Kremer , H , Hoefsloot , L , Schraders , M & Yntema , H G 2017 , ' The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands ' , European Journal of Human Genetics , vol. 25 , no. 3 , pp. 308-314 . https://doi.org/10.1038/ejhg.2016.182;
2017
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Hermans, Bregtje C. M., Derks, Jules L., Hillen, Lisa M., van der Baan, Irene, van den Broek, Esther C., von der Thusen, Jan H., Van Suylen, Robert-Jan, Atmodimedjo, Peggy N., den Toom, T. Dorine, Coumans-Stallinga, Cecile, Timens, Wim, Dinjens, Winand N. M., Dubbink, Hendrikus J., Speel, Ernst-Jan M., Dingemans, Anne-Marie C.
Veröffentlicht in: PALGA Grp , Hermans , B C M , Derks , J L , Hillen , L M , van der Baan , I , van den Broek , E C , von der Thusen , J H , Van Suylen , R-J , Atmodimedjo , P N , den Toom , T D , Coumans-Stallinga , C , Timens , W , Dinjens , W N M , Dubbink , H J , Speel , E-J M & Dingemans , A-M C 2022 , ' In-depth molecular analysis of combined and co-primary pulmonary large cell neuroendocrine carcinoma and adenocarcinoma ' , International Journal of Cancer , vol. 150 , no. 5 , pp. 802-815 . https://doi.org/10.1002/ijc.33853;
2022
Veröffentlicht in: PALGA Grp , Hermans , B C M , Derks , J L , Hillen , L M , van der Baan , I , van den Broek , E C , von der Thusen , J H , Van Suylen , R-J , Atmodimedjo , P N , den Toom , T D , Coumans-Stallinga , C , Timens , W , Dinjens , W N M , Dubbink , H J , Speel , E-J M & Dingemans , A-M C 2022 , ' In-depth molecular analysis of combined and co-primary pulmonary large cell neuroendocrine carcinoma and adenocarcinoma ' , International Journal of Cancer , vol. 150 , no. 5 , pp. 802-815 . https://doi.org/10.1002/ijc.33853;
2022
4
Marsili, Luisa, Overwater, Eline, Hanna, Nadine, Baujat, Genevieve, Baars, Marieke J. H., Boileau, Catherine, Bonneau, Dominique, Brehin, Anne Claire, Capri, Yline, Cheung, Ho Y., Dulfer, Eelco, Gerard, Marion, Gouya, Laurent, Hilhorst-Hofstee, Yvonne, Houweling, Arjan C., Isidor, Bertrand, Le Gloan, Lauriane, Menke, Leonie A., Odent, Sylvie, Morice-Picard, Fanny, Vanlerberghe, Clemence, Voorhoeve, Els, van Tintelen, J. Peter, Maugeri, Alessandra, Arnaud, Pauline
Veröffentlicht in: Marsili , L , Overwater , E , Hanna , N , Baujat , G , Baars , M J H , Boileau , C , Bonneau , D , Brehin , A C , Capri , Y , Cheung , H Y , Dulfer , E , Gerard , M , Gouya , L , Hilhorst-Hofstee , Y , Houweling , A C , Isidor , B , Le Gloan , L , Menke , L A , Odent , S , Morice-Picard , F , Vanlerberghe , C , Voorhoeve , E , van Tintelen , J P , Maugeri , A & Arnaud , P 2020 , ' Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient ' , Clinical Genetics , vol. 97 , no. 5 , pp. 723-730 . https://doi.org/10.1111/cge.13700;
2020
Veröffentlicht in: Marsili , L , Overwater , E , Hanna , N , Baujat , G , Baars , M J H , Boileau , C , Bonneau , D , Brehin , A C , Capri , Y , Cheung , H Y , Dulfer , E , Gerard , M , Gouya , L , Hilhorst-Hofstee , Y , Houweling , A C , Isidor , B , Le Gloan , L , Menke , L A , Odent , S , Morice-Picard , F , Vanlerberghe , C , Voorhoeve , E , van Tintelen , J P , Maugeri , A & Arnaud , P 2020 , ' Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient ' , Clinical Genetics , vol. 97 , no. 5 , pp. 723-730 . https://doi.org/10.1111/cge.13700;
2020
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Cnossen, Marjon H., van Moort, Iris, Reitsma, Simone H., de Maat, Moniek P. M., Schutgens, Roger E. G., Urbanus, Rolf T., Lingsma, Hester F., Mathot, Ron A. A., Gouw, Samantha C., Meijer, Karina, Bredenoord, Annelien L., van der Graaf, Rieke, Fijnvandraat, Karin, Meijer, Alexander B., van den Akker, Emile, Bierings, Ruben, Eikenboom, Jeroen C. J., van den Biggelaar, Maartje, de Haas, Masja, Voorberg, Jan, Leebeek, Frank W. G.
Veröffentlicht in: SYMPHONY Consortium , Cnossen , M H , van Moort , I , Reitsma , S H , de Maat , M P M , Schutgens , R E G , Urbanus , R T , Lingsma , H F , Mathot , R A A , Gouw , S C , Meijer , K , Bredenoord , A L , van der Graaf , R , Fijnvandraat , K , Meijer , A B , van den Akker , E , Bierings , R , Eikenboom , J C J , van den Biggelaar , M , de Haas , M , Voorberg , J & Leebeek , F W G 2022 , ' SYMPHONY consortium : Orchestrating personalized treatment for patients with bleeding disorders ' , Journal of Thrombosis and Haemostasis , vol. 20 , no. 9 , pp. 2001-2011 . https://doi.org/10.1111/jth.15778;
2022
Veröffentlicht in: SYMPHONY Consortium , Cnossen , M H , van Moort , I , Reitsma , S H , de Maat , M P M , Schutgens , R E G , Urbanus , R T , Lingsma , H F , Mathot , R A A , Gouw , S C , Meijer , K , Bredenoord , A L , van der Graaf , R , Fijnvandraat , K , Meijer , A B , van den Akker , E , Bierings , R , Eikenboom , J C J , van den Biggelaar , M , de Haas , M , Voorberg , J & Leebeek , F W G 2022 , ' SYMPHONY consortium : Orchestrating personalized treatment for patients with bleeding disorders ' , Journal of Thrombosis and Haemostasis , vol. 20 , no. 9 , pp. 2001-2011 . https://doi.org/10.1111/jth.15778;
2022
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Somers, Metten, Loohuis, Loes M. Olde, Aukes, Maartje F., Pasaniuc, Bogdan, de Visser, Kees C. L., Kahn, Rene S., Sommer, Iris E., Ophoff, Roel A.
Veröffentlicht in: Somers , M , Loohuis , L M O , Aukes , M F , Pasaniuc , B , de Visser , K C L , Kahn , R S , Sommer , I E & Ophoff , R A 2017 , ' A Genetic Population Isolate in The Netherlands Showing Extensive Haplotype Sharing and Long Regions of Homozygosity ' , Genes , vol. 8 , no. 5 , 133 , pp. 1-14 . https://doi.org/10.3390/genes8050133;
2017
Veröffentlicht in: Somers , M , Loohuis , L M O , Aukes , M F , Pasaniuc , B , de Visser , K C L , Kahn , R S , Sommer , I E & Ophoff , R A 2017 , ' A Genetic Population Isolate in The Netherlands Showing Extensive Haplotype Sharing and Long Regions of Homozygosity ' , Genes , vol. 8 , no. 5 , 133 , pp. 1-14 . https://doi.org/10.3390/genes8050133;
2017
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Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
Veröffentlicht in: Dommering , C J , Henneman , L , van der Hout , A H , Jonker , M A , Tops , C M J , van den Ouweland , A M W , van der Luijt , R B , Mensenkamp , A R , Hogervorst , F B L , Redeker , E J W , de Die-Smulders , C E M , Moll , A C & Meijers-Heijboer , H 2017 , ' Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands ' , Familial Cancer , vol. 16 , no. 2 , pp. 271-277 . https://doi.org/10.1007/s10689-016-9943-z;
2017
Veröffentlicht in: Dommering , C J , Henneman , L , van der Hout , A H , Jonker , M A , Tops , C M J , van den Ouweland , A M W , van der Luijt , R B , Mensenkamp , A R , Hogervorst , F B L , Redeker , E J W , de Die-Smulders , C E M , Moll , A C & Meijers-Heijboer , H 2017 , ' Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands ' , Familial Cancer , vol. 16 , no. 2 , pp. 271-277 . https://doi.org/10.1007/s10689-016-9943-z;
2017