1
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
2
Haer-Wigman, Lonneke, van Zelst-Stams, Wendy A. G., Pfundt, Rolph, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Verheij, Joke B. G. M., Hoyng, Carel B., Breuning, Martijn H., Boon, Camiel J. F., Kievit, Anneke J., Verhoeven, Virginie J. M., Pott, Jan W. R., Sallevelt, Suzanne C. E. H., van Hagen, Johanna M., Plomp, Astrid S., Kroes, Hester Y., Lelieveld, Stefan H., Hehir-Kwa, Jayne Y., Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans P. M., Hoefsloot, Lies, Yntema, Helger G.
Veröffentlicht in: Haer-Wigman , L , van Zelst-Stams , W A G , Pfundt , R , van den Born , L I , Klaver , C C W , Verheij , J B G M , Hoyng , C B , Breuning , M H , Boon , C J F , Kievit , A J , Verhoeven , V J M , Pott , J W R , Sallevelt , S C E H , van Hagen , J M , Plomp , A S , Kroes , H Y , Lelieveld , S H , Hehir-Kwa , J Y , Castelein , S , Nelen , M , Scheffer , H , Lugtenberg , D , Cremers , F P M , Hoefsloot , L & Yntema , H G 2017 , ' Diagnostic exome sequencing in 266 Dutch patients with visual impairment ' , European Journal of Human Genetics , vol. 25 , no. 5 , pp. 591-599 . https://doi.org/10.1038/ejhg.2017.9;
2017
Veröffentlicht in: Haer-Wigman , L , van Zelst-Stams , W A G , Pfundt , R , van den Born , L I , Klaver , C C W , Verheij , J B G M , Hoyng , C B , Breuning , M H , Boon , C J F , Kievit , A J , Verhoeven , V J M , Pott , J W R , Sallevelt , S C E H , van Hagen , J M , Plomp , A S , Kroes , H Y , Lelieveld , S H , Hehir-Kwa , J Y , Castelein , S , Nelen , M , Scheffer , H , Lugtenberg , D , Cremers , F P M , Hoefsloot , L & Yntema , H G 2017 , ' Diagnostic exome sequencing in 266 Dutch patients with visual impairment ' , European Journal of Human Genetics , vol. 25 , no. 5 , pp. 591-599 . https://doi.org/10.1038/ejhg.2017.9;
2017
3
Touw, Catharina M. L., Smit, G. Peter A., de Vries, Maaike, de Klerk, Johannis B. C., Bosch, Annet M., Visser, Gepke, Mulder, Margot F., Rubio-Gozalbo, M. Estela, Elvers, Bert, Niezen-Koning, Klary E., Wanders, Ronald J. A., Waterham, Hans R., Reijngoud, Dirk-Jan, Derks, Terry G. J.
Veröffentlicht in: Touw , C M L , Smit , G P A , de Vries , M , de Klerk , J B C , Bosch , A M , Visser , G , Mulder , M F , Rubio-Gozalbo , M E , Elvers , B , Niezen-Koning , K E , Wanders , R J A , Waterham , H R , Reijngoud , D-J & Derks , T G J 2012 , ' Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency : data from a cohort study ' , Orphanet journal of rare diseases , vol. 7 , 30 . https://doi.org/10.1186/1750-1172-7-30;
2012
Veröffentlicht in: Touw , C M L , Smit , G P A , de Vries , M , de Klerk , J B C , Bosch , A M , Visser , G , Mulder , M F , Rubio-Gozalbo , M E , Elvers , B , Niezen-Koning , K E , Wanders , R J A , Waterham , H R , Reijngoud , D-J & Derks , T G J 2012 , ' Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency : data from a cohort study ' , Orphanet journal of rare diseases , vol. 7 , 30 . https://doi.org/10.1186/1750-1172-7-30;
2012
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van Dooijeweert, B, van Ommen, C H, Smiers, F J, Tamminga, R Y J, Te Loo, M W, Donker, A E, Peters, M, Granzen, B, Gille, J J P, Bierings, M B, MacInnes, A W, Bartels, M
Veröffentlicht in: van Dooijeweert , B , van Ommen , C H , Smiers , F J , Tamminga , R Y J , Te Loo , M W , Donker , A E , Peters , M , Granzen , B , Gille , J J P , Bierings , M B , MacInnes , A W & Bartels , M 2018 , ' Pediatric Diamond-Blackfan anemia in the Netherlands : An overview of clinical characteristics and underlying molecular defects ' , European Journal of Haematology , vol. 100 , no. 2 , pp. 163-170 . https://doi.org/10.1111/ejh.12995;
2018
Veröffentlicht in: van Dooijeweert , B , van Ommen , C H , Smiers , F J , Tamminga , R Y J , Te Loo , M W , Donker , A E , Peters , M , Granzen , B , Gille , J J P , Bierings , M B , MacInnes , A W & Bartels , M 2018 , ' Pediatric Diamond-Blackfan anemia in the Netherlands : An overview of clinical characteristics and underlying molecular defects ' , European Journal of Haematology , vol. 100 , no. 2 , pp. 163-170 . https://doi.org/10.1111/ejh.12995;
2018
6
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
7
Janssens, Jonathan, Philtjens, Stephanie, Kleinberger, Gernot, Van Mossevelde, Sara, van der Zee, Julie, Cacace, Rita, Engelborghs, Sebastiaan, Sieben, Anne, Banzhaf-Strathmann, Julia, Dillen, Lubina, Merlin, Celine, Cuijt, Ivy, Robberecht, Caroline, Schmid, Bettina, Santens, Patrick, Ivanoiu, Adrian, Vandenbulcke, Mathieu, Vandenberghe, Rik, Cras, Patrick, De Deyn, Peter P., Martin, Jean-Jacques, Maudsley, Stuart, Haass, Christian, Cruts, Marc, Van Broeckhoven, Christine
Veröffentlicht in: Belgian Neurology BELNEU , Janssens , J , Philtjens , S , Kleinberger , G , Van Mossevelde , S , van der Zee , J , Cacace , R , Engelborghs , S , Sieben , A , Banzhaf-Strathmann , J , Dillen , L , Merlin , C , Cuijt , I , Robberecht , C , Schmid , B , Santens , P , Ivanoiu , A , Vandenbulcke , M , Vandenberghe , R , Cras , P , De Deyn , P P , Martin , J-J , Maudsley , S , Haass , C , Cruts , M & Van Broeckhoven , C 2015 , ' Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains ' , Acta Neuropathologica Communications , vol. 3 , 68 . https://doi.org/10.1186/s40478-015-0246-7;
2015
Veröffentlicht in: Belgian Neurology BELNEU , Janssens , J , Philtjens , S , Kleinberger , G , Van Mossevelde , S , van der Zee , J , Cacace , R , Engelborghs , S , Sieben , A , Banzhaf-Strathmann , J , Dillen , L , Merlin , C , Cuijt , I , Robberecht , C , Schmid , B , Santens , P , Ivanoiu , A , Vandenbulcke , M , Vandenberghe , R , Cras , P , De Deyn , P P , Martin , J-J , Maudsley , S , Haass , C , Cruts , M & Van Broeckhoven , C 2015 , ' Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains ' , Acta Neuropathologica Communications , vol. 3 , 68 . https://doi.org/10.1186/s40478-015-0246-7;
2015
8
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