Human Genetics

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  • 2017

    Arrhythmogenic cardiomyopathy: Pathology, genetics, and concepts in pathogenesis

    Hoorntje, E. T., Te Rijdt, W. P., James, C. A., Pilichou, K., Basso, C., Judge, D. P., Bezzina, C. R. & Van Tintelen, J. P., 1 Oct 2017, In: Cardiovascular research. 113, 12, p. 1521-1531 11 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

    88 Citations (Scopus)

  • Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation

    Postema, F. A. M., Hopman, S. M. J., Aalfs, C. M., Berger, L. P. V., Bleeker, F. E., Dommering, C. J., Jongmans, M. C. J., Letteboer, T. G. W., Olderode-Berends, M. J. W., Wagner, A., Hennekam, R. C. & Merks, J. H. M., 1 Jul 2017, In: European Journal of Cancer. 80, p. 48-54 7 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

    18 Citations (Scopus)

  • Expertise van klinisch geneticus beter benutten: Behandelaar kan voor meeste kankerpatiënten DNA-test aanvragen

    Translated title of the contribution: Making better use of the clinical geneticist's expertise; Treating physician could request a DNA test for most cancer patientsAalfs, C. M., Westermann, A. M. & Van El, C. G., 2017, In: Nederlands Tijdschrift voor Geneeskunde. 161, 25, D1525.

    Research output: Contribution to journal › Review article › Academic › peer-review

    2 Citations (Scopus)

  • The Action Radius of Oxytocin Release in the Mammalian CNS: From Single Vesicles to Behavior

    Chini, B., Verhage, M. & Grinevich, V., 1 Nov 2017, In: Trends in pharmacological sciences. 38, 11, p. 982-991 10 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

    Open Access
    84 Citations (Scopus)
  • 2016

    A systematic review to investigate the measurement properties of goal attainment scaling, towards use in drug trials

    Gaasterland, C. M. W., Jansen-van der Weide, M. C., Weinreich, S. S. & van der Lee, J. H., 17 Aug 2016, In: BMC medical research methodology. 16, p. 99 99.

    Research output: Contribution to journal › Review article › Academic › peer-review

    27 Citations (Scopus)

  • Comparative Connectomics

    van den Heuvel, M. P., Bullmore, E. T. & Sporns, O., 1 May 2016, In: Trends in cognitive sciences. 20, 5, p. 345-361 17 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

    232 Citations (Scopus)

  • Connectomics in Schizophrenia: From Early Pioneers to Recent Brain Network Findings

    Collin, G., Turk, E. & Van Den Heuvel, M. P., 1 May 2016, In: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging. 1, 3, p. 199-208 10 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

    32 Citations (Scopus)

  • Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

    Santos, R. D., Gidding, S. S., Hegele, R. A., Cuchel, M. A., Barter, P. J., Watts, G. F., Baum, S. J., Catapano, A. L., Chapman, M. J., Defesche, J. C., Folco, E., Freiberger, T., Genest, J., Hovingh, G. K., Harada-Shiba, M., Humphries, S. E., Jackson, A. S., Mata, P., Moriarty, P. M., Raal, F. J., & 5 othersAl-Rasadi, K., Ray, K. K., Reiner, Z., Sijbrands, E. J. G. & Yamashita, S., 2016, In: Lancet. Diabetes and endocrinology. 4, 10, p. 850-861

    Research output: Contribution to journal › Review article › Academic › peer-review

    321 Citations (Scopus)

  • Diffuse large B-cell lymphoma with MYC gene rearrangements: Current perspective on treatment of diffuse large B-cell lymphoma with MYC gene rearrangements; case series and review of the literature

    de Jonge, A. V., Roosma, T. J. A., Houtenbos, I., Vasmel, W. L. E., van de Hem, K., de Boer, J. P., van Maanen, T., Lindauer-van der Werf, G., Beeker, A., Timmers, G. J., Schaar, C. G., Soesan, M., Poddighe, P. J., de Jong, D. & Chamuleau, M. E. D., Mar 2016, In: European Journal of Cancer. 55, p. 140-146 7 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

    Open Access
    22 Citations (Scopus)

  • Genetics of congenital heart disease: the contribution of the noncoding regulatory genome

    Postma, A. V., Bezzina, C. R. & Christoffels, V. M., 2016, In: Journal of Human Genetics. 61, 1, p. 13-19

    Research output: Contribution to journal › Review article › Academic › peer-review

    48 Citations (Scopus)

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Klionsky, D. J., Abdelmohsen, K., Abe, A., Abedin, M. J., Abeliovich, H., Arozena, A. A., Adachi, H., Adams, C. M., Adams, P. D., Adeli, K., Adhihetty, P. J., Adler, S. G., Agam, G., Agarwal, R., Aghi, M. K., Agnello, M., Agostinis, P., Aguilar, P. V., Aguirre-Ghiso, J., Airoldi, E. M., & 2,455 othersAit-Si-Ali, S., Akematsu, T., Akporiaye, E. T., Al-Rubeai, M., Albaiceta, G. M., Albanese, C., Albani, D., Albert, M. L., Aldudo, J., Algül, H., Alirezaei, M., Alloza, I., Almasan, A., Almonte-Beceril, M., Alnemri, E. S., Alonso, C., Altan-Bonnet, N., Altieri, D. C., Alvarez, S., Alvarez-Erviti, L., Alves, S., Amadoro, G., Amano, A., Amantini, C., Ambrosio, S., Amelio, I., Amer, A. O., Amessou, M., Amon, A., An, Z., Anania, F. A., Andersen, S. U., Andley, U. P., Andreadi, C. K., Andrieu-Abadie, N., Anel, A., Ann, D. K., Anoopkumar-Dukie, S., Antonioli, M., Aoki, H., Apostolova, N., Aquila, S., Aquilano, K., Araki, K., Arama, E., Aranda, A., Araya, J., Arcaro, A., Arias, E., Arimoto, H., Ariosa, A. R., Armstrong, J. L., Arnould, T., Arsov, I., Asanuma, K., Askanas, V., Asselin, E., Atarashi, R., Atherton, S. S., Atkin, J. D., Attardi, L. D., Auberger, P., Auburger, G., Aurelian, L., Autelli, R., Avagliano, L., Avantaggiati, M. L., Avrahami, L., Azad, N., Awale, S., Bachetti, T., Backer, J. M., Bae, D-H., Bae, J-S., Bae, O-N., Bae, S. H., Baehrecke, E. H., Baek, S-H., Baghdiguian, S., Bagniewska-Zadworna, A., Bai, H., Bai, J., Bai, X-Y., Bailly, Y., Balaji, K. N., Balduini, W., Ballabio, A., Balzan, R., Banerjee, R., Bánhegyi, G., Bao, H., Barbeau, B., Barrachina, M. D., Barreiro, E., Bartel, B., Bartolomé, A., Bassham, D. C., Bassi, M. T., Bast, R. C., Basu, A., Batista, M. T., Batoko, H., Battino, M., Bauckman, K., Baumgarner, B. L., Bayer, K. U., Beale, R., Beaulieu, J-F., Beck, G. R., Becker, C., Beckham, J. D., Bédard, P-A., Bednarski, P. J., Begley, T. J., Behl, C., Behrends, C., Behrens, G. M. N., Behrns, K. E., Bejarano, E., Belaid, A., Belleudi, F., Bénard, G., Berchem, G., Bergamaschi, D., Bergami, M., Berkhout, B., Berliocchi, L., Bernard, A., Bernard, M., Bernassola, F., Bertolotti, A., Bess, A. S., Besteiro, S., Bettuzzi, S., Bhalla, S., Bhattacharyya, S., Bhutia, S. K., Biagosch, C., Bianchi, M. W., Biard-Piechaczyk, M., Billes, V., Bincoletto, C., Bingol, B., Bird, S. W., Bitoun, M., Bjedov, I., Blackstone, C., Blanc, L., Blanco, G. A., Blomhoff, H. K., Boada-Romero, E., Böckler, S., Boes, M., Boesze-Battaglia, K., Boise, L. H., Bolino, A., Boman, A., Bonaldo, P., Bordi, M., Bosch, J., Botana, L. M., Botti, J., Bou, G., Bouché, M., Bouchecareilh, M., Boucher, M-J., Boulton, M. E., Bouret, S. G., Boya, P., Boyer-Guittaut, M., Bozhkov, P. V., Brady, N., Braga, V. M. M., Brancolini, C., Braus, G. H., Bravosan-Pedro, J. M., Brennan, L. A., Bresnick, E. H., Brest, P., Bridges, D., Bringer, M-A., Brini, M., Brito, G. C., Brodin, B., Brookes, P. S., Brown, E. J., Brown, K., Broxmeyer, H. E., Bruhat, A., Brum, P. C., Brumell, J. H., Brunetti-Pierri, N., Bryson-Richardson, R. J., Buch, S., Buchan, A. M., Budak, H., Bulavin, D. V., Bultman, S. J., Bultynck, G., Bumbasirevic, V., Burelle, Y., Burke, R. E., Burmeister, M., Bütikofer, P., Caberlotto, L., Cadwell, K., Cahova, M., Cai, D., Cai, J., Cai, Q., Calatayud, S., Camougrand, N., Campanella, M., Campbell, G. R., Campbell, M., Campello, S., Candau, R., Caniggia, I., Cantoni, L., Cao, L., Caplan, A. B., Caraglia, M., Cardinali, C., Cardoso, S. M., Carew, J. S., Carleton, L. A., Carlin, C. R., Carloni, S., Carlsson, S. R., Carmona-Gutierrez, D., Carneiro, L. A. M., Carnevali, O., Carra, S., Carrier, A., Carroll, B., Casas, C., Casas, J., Cassinelli, G., Castets, P., Castro-Obregon, S., Cavallini, G., Ceccherini, I., Cecconi, F., Cederbaum, A. I., Ceña, V., Cenci, S., Cerella, C., Cervia, D., Cetrullo, S., Chaachouay, H., Chae, H-J., Chagin, A. S., Chai, C-Y., Chakrabarti, G., Chamilos, G., Chan, E. Y. W., Chan, M. T. V., Chandra, D., Chandra, P., Chang, C-P., Chang, RC-C., Chang, T. Y., Chatham, J. C., Chatterjee, S., Chauhan, S., Che, Y., Cheetham, M. E., Cheluvappa, R., Chen, C-J., Chen, G., Chen, G-C., Chen, G., Chen, H., Chen, J. W., Chen, J-K., Chen, M., Chen, M., Chen, P., Chen, Q., Chen, Q., Chen, S-D., Chen, S., Chen, SS-L., Chen, W., Chen, W-J., Chen, W. Q., Chen, W., Chen, X., Chen, Y-H., Chen, Y-G., Chen, Y., Chen, Y., Chen, Y., Chen, Y-J., Chen, Y-Q., Chen, Y., Chen, Z., Chen, Z., Cheng, A., Cheng, C. H. K., Cheng, H., Cheong, H., Cherry, S., Chesney, J., Cheung, C. H. A., Chevet, E., Chi, H. C., Chi, S-G., Chiacchiera, F., Chiang, H-L., Chiarelli, R., Chiariello, M., Chieppa, M., Chin, L-S., Chiong, M., Chiu, G. N. C., Cho, D-H., Cho, S-G., Cho, W. C., Cho, Y-Y., Cho, Y-S., Choi, A. M. K., Choi, E-J., Choi, E-K., Choi, J., Choi, M. E., Choi, S-I., Chou, T-F., Chouaib, S., Choubey, D., Choubey, V., Chow, K-C., Chowdhury, K., Chu, C. T., Chuang, T-H., Chun, T., Chung, H., Chung, T., Chung, Y-L., Chwae, Y-J., Cianfanelli, V., Ciarcia, R., Ciechomska, I. A., Ciriolo, M. R., Cirone, M., Claerhout, S., Clague, M. J., Clària, J., Clarke, P. G. H., Clarke, R., Clementi, E., Cleyrat, C., Cnop, M., Coccia, E. M., Cocco, T., Codogno, P., Coers, J., Cohen, E. E. W., Colecchia, D., Coletto, L., Coll, N. S., Colucci-Guyon, E., Comincini, S., Condello, M., Cook, K. L., Coombs, G. H., Cooper, C. D., Cooper, J. M., Coppens, I., Corasaniti, M. T., Corazzari, M., Corbalan, R., Corcelle-Termeau, E., Cordero, M. D., Corral-Ramos, C., Corti, O., Cossarizza, A., Costelli, P., Costes, S., Cotman, S. L., Coto-Montes, A., Cottet, S., Couve, E., Covey, L. R., Cowart, L. A., Cox, J. S., Coxon, F. P., Coyne, C. B., Cragg, M. S., Craven, R. J., Crepaldi, T., Crespo, J. L., Criollo, A., Crippa, V., Cruz, M. T., Cuervo, A. M., Cuezva, J. M., Cui, T., Cutillas, P. R., Czaja, M. J., Czyzyk-Krzeska, M. F., Dagda, R. K., Dahmen, U., Dai, C., Dai, W., Dai, Y., Dalby, K. N., Valle, L. D., Dalmasso, G., D'amelio, M., Damme, M., Darfeuille-Michaud, A., Dargemont, C., Darley-Usmar, V. M., Dasarathy, S., Dasgupta, B., Dash, S., Dass, C. R., Davey, H. M., Davids, L. M., Dávila, D., Davis, R. J., Dawson, T. M., Dawson, V. L., Daza, P., de Belleroche, J., de Figueiredo, P., de Figueiredo, R. C. B. Q., de la Fuente, J., De Martino, L., De Matteis, A., De Meyer, G. R. Y., De Milito, A., De Santi, M., de Souza, W., De Tata, V., De Zio, D., Debnath, J., Dechant, R., Decuypere, J-P., Deegan, S., Dehay, B., Del Bello, B., Del Re, D. P., Delage-Mourroux, R., Delbridge, L. M. D., Deldicque, L., Delorme-Axford, E., Deng, Y., Dengjel, J., Denizot, M., Dent, P., Der, C. J., Deretic, V., Derrien, B., Deutsch, E., Devarenne, T. P., Devenish, R. J., Di Bartolomeo, S., Di Daniele, N., Di Domenico, F., Di Nardo, A., Di Paola, S., Di Pietro, A., Di Renzo, L., Di Antonio, A., Díaz-Araya, G., Díaz-Laviada, I., Diaz-Meco, M. T., Diaz-Nido, J., Dickey, C. A., Dickson, R. C., Diederich, M., Digard, P., Dikic, I., Dinesh-Kumar, S. P., Ding, C., Ding, W-X., Ding, Z., Dini, L., Distler, J. H. W., Diwan, A., Djavaheri-Mergny, M., Dmytruk, K., Dobson, R. C. J., Doetsch, V., Dokladny, K., Dokudovskaya, S., Donadelli, M., Dong, X. C., Dong, X., Dong, Z., Donohue, T. M., Donohue-Jr, T. M., Doran, K. S., D'orazi, G., Dorn, G. W., Dosenko, V., Dridi, S., Drucker, L., Du, J., Du, L-L., Du, L., du Toit, A., Dua, P., Duan, L., Duann, P., Dubey, V. K., Duchen, M. R., Duchosal, M. A., Duez, H., Dugail, I., Dumit, V. I., Duncan, M. C., Dunlop, E. A., Dunn, W. A., Dupont, N., Dupuis, L., Durán, R. V., Durcan, T. M., Duvezin-Caubet, S., Duvvuri, U., Eapen, V., Ebrahimi-Fakhari, D., Echard, A., Eckhart, L., Edelstein, C. L., Edinger, A. L., Eichinger, L., Eisenberg, T., Eisenberg-Lerner, A., Eissa, N. T., El-Deiry, W. S., El-Khoury, V., Elazar, Z., Eldar-Finkelman, H., Elliott, C. J. H., Emanuele, E., Emmenegger, U., Engedal, N., Engelbrecht, A-M., Engelender, S., Enserink, J. M., Erdmann, R., Erenpreisa, J., Eri, R., Eriksen, J. L., Erman, A., Escalante, R., Eskelinen, E-L., Espert, L., Esteban-Martínez, L., Evans, T. J., Fabri, M., Fabrias, G., Fabrizi, C., Facchiano, A., Færgeman, N. J., Faggioni, A., Fairlie, W. D., Fan, C., Fan, D., Fan, J., Fang, S., Fanto, M., Fanzani, A., Farkas, T., Faure, M., Favier, F. B., Fearnhead, H., Federici, M., Fei, E., Felizardo, T. C., Feng, H., Feng, Y., Feng, Y., Ferguson, T. A., Fernández, Á. F., Fernandez-Barrena, M. G., Fernandez-Checa, J. C., Fernández-López, A., Fernandez-Zapico, M. E., Feron, O., Ferraro, E., Ferreira-Halder, C. V., Fesus, L., Feuer, R., Fiesel, F. C., Filippi-Chiela, E. C., Filomeni, G., Fimia, G. M., Fingert, J. H., Finkbeiner, S., Finkel, T., Fiorito, F., Fisher, P. B., Flajolet, M., Flamigni, F., Florey, O., Florio, S., Floto, R. A., Folini, M., Follo, C., Fon, E. A., Fornai, F., Fortunato, F., Fraldi, A., Franco, R., Francois, A., François, A., Frankel, L. B., Fraser, I. D. C., Frey, N., Freyssenet, D. G., Frezza, C., Friedman, S. L., Frigo, D. E., Fu, D., Fuentes, J. M., Fueyo, J., Fujitani, Y., Fujiwara, Y., Fujiya, M., Fukuda, M., Fulda, S., Fusco, C., Gabryel, B., Gaestel, M., Gailly, P., Gajewska, M., Galadari, S., Galili, G., Galindo, I., Galindo, M. F., Galliciotti, G., Galluzzi, L., Galluzzi, L., Galy, V., Gammoh, N., Gandy, S., Ganesan, A. K., Ganesan, S., Ganley, I. G., Gannagé, M., Gao, F-B., Gao, F., Gao, J-X., Nannig, L. G., Véscovi, E. G., Garcia-Macía, M., Garcia-Ruiz, C., Garg, A. D., Garg, P. K., Gargini, R., Gassen, N. C., Gatica, D., Gatti, E., Gavard, J., Gavathiotis, E., Ge, L., Ge, P., Ge, S., Gean, P-W., Gelmetti, V., Genazzani, A. A., Geng, J., Genschik, P., Gerner, L., Gestwicki, J. E., Gewirtz, D. A., Ghavami, S., Ghigo, E., Ghosh, D., Giammarioli, A. M., Giampieri, F., Giampietri, C., Giatromanolaki, A., Gibbings, D. J., Gibellini, L., Gibson, S. B., Ginet, V., Giordano, A., Giorgini, F., Giovannetti, E., Girardin, S. E., Gispert, S., Giuliano, S., Gladson, C. L., Glavic, A., Gleave, M., Godefroy, N., Gogal, R. M., Gokulan, K., Goldman, G. H., Goletti, D., Goligorsky, M. S., Gomes, A. V., Gomes, L. C., Gomez, H., Gomez-Manzano, C., Gómez-Sánchez, R., Gonçalves, D. A. P., Goncu, E., Gong, Q., Gongora, C., Gonzalez, C. B., Gonzalez-Alegre, P., Gonzalez-Cabo, P., González-Polo, R. A., Goping, I. S., Gorbea, C., Gorbunov, N. V., Goring, D. R., Gorman, A. M., Gorski, S. M., Goruppi, S., Goto-Yamada, S., Gotor, C., Gottlieb, R. A., Gozes, I., Gozuacik, D., Graba, Y., Graef, M., Granato, G. E., Grant, G. D., Grant, S., Gravina, G. L., Green, D. R., Greenhough, A., Greenwood, M. T., Grimaldi, B., Gros, F., Grose, C., Groulx, J-F., Gruber, F., Grumati, P., Grune, T., Guan, J-L., Guan, K-L., Guerra, B., Guillen, C., Gulshan, K., Gunst, J., Guo, C., Guo, L., Guo, M., Guo, W., Guo, X-G., Gust, A. A., Gustafsson, Å. B., Gutierrez, E., Gutierrez, M. G., Gwak, H-S., Haas, A., Haber, J. E., Hadano, S., Hagedorn, M., Hahn, D. R., Halayko, A. J., Hamacher-Brady, A., Hamada, K., Hamai, A., Hamann, A., Hamasaki, M., Hamer, I., Hamid, Q., Hammond, E. M., Han, F., Han, W., Handa, J. T., Hanover, J. A., Hansen, M., Harada, M., Harhaji-Trajkovic, L., Harper, J. W., Harrath, A. H., Harris, A. L., Harris, J., Hasler, U., Hasselblatt, P., Hasui, K., Hawley, R. G., Hawley, T. S., He, C., He, C. Y., He, F., He, G., He, R-R., He, X-H., He, Y-W., He, Y-Y., Heath, J. K., Hébert, M-J., Heinzen, R. A., Helgason, G. V., Hensel, M., Henske, E. P., Her, C., Herman, P. K., Hernández, A., Hernandez, C., Hernández-Tiedra, S., Hetz, C., Hiesinger, P. R., Higaki, K., Hilfiker, S., Hill, B. G., Hill, J. A., Hill, W. D., Hino, K., Hofius, D., Hofman, P., Höglinger, G. U., Höhfeld, J., Holz, M. K., Hong, Y., Hood, D. A., Hoozemans, J. J. M., Hoppe, T., Hsu, C., Hsu, C-Y., Hsu, L-C., Hu, D., Hu, G., Hu, H-M., Hu, H., Hu, M. C., Hu, Y-C., Hu, Z-W., Hua, F., Hua, Y., Huang, C., Huang, H-L., Huang, K-H., Huang, K-Y., Huang, S., Huang, S., Huang, W-P., Huang, Y-R., Huang, Y., Huang, Y., Huber, T. B., Huebbe, P., Huh, W-K., Hulmi, J. J., Hur, G. M., Hurley, J. H., Husak, Z., Hussain, S. N. A., Hussain, S., Hwang, J. J., Hwang, S., Hwang, T. I. S., Ichihara, A., Imai, Y., Imbriano, C., Inomata, M., Into, T., Iovane, V., Iovanna, J. L., Iozzo, R. V., Ip, N. Y., Irazoqui, J. E., Iribarren, P., Isaka, Y., Isakovic, A. J., Ischiropoulos, H., Isenberg, J. S., Ishaq, M., Ishida, H., Ishii, I., Ishmael, J. E., Isidoro, C., Isobe, K-I., Isono, E., Issazadeh-Navikas, S., Itahana, K., Itakura, E., Ivanov, A. I., Iyer, A. K. V., Izquierdo, J. M., Izumi, Y., Izzo, V., Jäättelä, M., Jaber, N., Jackson, D. J., Jackson, W. T., Jacob, T. G., Jacques, T. S., Jagannath, C., Jain, A., Jana, N. R., Jang, B. K., Jani, A., Janji, B., Jannig, P. R., Jansson, P. J., Jean, S., Jendrach, M., Jeon, J-H., Jessen, N., Jeung, E-B., Jia, K., Jia, L., Jiang, H., Jiang, H., Jiang, L., Jiang, T., Jiang, X., Jiang, X., Jiang, Y., Jiang, Y., Jiménez, A., Jin, C., Jin, H., Jin, L., Jin, M., Jin, S., Jinwal, U. K., Jo, E-K., Johansen, T., Johnson, D. E., Johnson, G. V. W., Johnson, J. D., Jonasch, E., Jones, C., Joosten, L. A. B., Jordan, J., Joseph, A-M., Joseph, B., Joubert, A. M., Ju, D., Ju, J., Juan, H-F., Juenemann, K., Juhász, G., Jung, H. S., Jung, J. U., Jung, Y-K., Jungbluth, H., Justice, M. J., Jutten, B., Kaakoush, N. O., Kaarniranta, K., Kaasik, A., Kabuta, T., Kaeffer, B., Kågedal, K., Kahana, A., Kajimura, S., Kakhlon, O., Kalia, M., Kalvakolanu, D. V., Kamada, Y., Kambas, K., Kaminskyy, V. O., Kampinga, H. 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R., van der Goot, F. G., van der Klei, I. J., van der Laan, L. J. W., van Doorn, W. G., van Egmond, M., van Golen, K. L., Van Kaer, L., Campagne, M. L., Vandenabeele, P., Vandenberghe, W., Vanhorebeek, I., Varela-Nieto, I., Vasconcelos, M. H., Vasko, R., Vavvas, D. G., Vega-Naredo, I., Velasco, G., Velentzas, A. D., Velentzas, P. D., Vellai, T., Vellenga, E., Vendelbo, M. H., Venkatachalam, K., Ventura, N., Ventura, S., Veras, P. S. T., Verdier, M., Vertessy, B. G., Viale, A., Vidal, M., Vieira, H. L. A., Vierstra, R. D., Vigneswaran, N., Vij, N., Vila, M., Villar, M., Villar, V. H., Villarroya, J., Vindis, C., Viola, G., Viscomi, M. T., Vitale, G., Vogl, D. T., Voitsekhovskaja, O. V., von Haefen, C., von Schwarzenberg, K., Voth, D. E., Vouret-Craviari, V., Vuori, K., Vyas, J. M., Waeber, C., Walker, C. L., Walker, M. J., Walter, J., Wan, L., Wan, X., Wang, B., Wang, C., Wang, C-Y., Wang, C., Wang, C., Wang, C., Wang, D., Wang, F., Wang, F., Wang, G., Wang, H-J., Wang, H., Wang, H-G., Wang, H., Wang, H-D., Wang, J., Wang, J., Wang, M., Wang, M-Q., Wang, P-Y., Wang, P., Wang, R. C., Wang, S., Wang, T-F., Wang, X., Wang, X-J., Wang, X-W., Wang, X., Wang, X., Wang, Y., Wang, Y., Wang, Y., Wang, Y-J., Wang, Y., Wang, Y., Wang, Y. T., Wang, Y., Wang, Z-N., Wappner, P., Ward, C., Ward, D. M. V., Warnes, G., Watada, H., Watanabe, Y., Watase, K., Weaver, T. E., Weekes, C. D., Wei, J., Weide, T., Weihl, C. C., Weindl, G., Weis, S. N., Wen, L., Wen, X., Wen, Y., Westermann, B., Weyand, C. M., White, A. R., White, E., Whitton, J. L., Whitworth, A. J., Wiels, J., Wild, F., Wildenberg, M. E., Wileman, T., Wilkinson, D. S., Wilkinson, S., Willbold, D., Williams, C., Williams, K., Williamson, P. R., Winklhofer, K. F., Witkin, S. S., Wohlgemuth, S. E., Wollert, T., Wolvetang, E. J., Wong, E., Wong, G. W., Wong, R. W., Wong, V. K. W., Woodcock, E. A., Wright, K. L., Wu, C., Wu, D., Wu, G. S., Wu, J., Wu, J., Wu, M., Wu, M., Wu, S., Wu, W. K. K., Wu, Y., Wu, Z., Xavier, C. P. R., Xavier, R. J., Xia, G-X., Xia, T., Xia, W., Xia, Y., Xiao, H., Xiao, J., Xiao, S., Xiao, W., Xie, C-M., Xie, Z., Xie, Z., Xilouri, M., Xiong, Y., Xu, C., Xu, C., Xu, F., Xu, H., Xu, H., Xu, J., Xu, J., Xu, J., Xu, L., Xu, X., Xu, Y., Xu, Y., Xu, Z-X., Xu, Z., Xue, Y., Yamada, T., Yamamoto, A., Yamanaka, K., Yamashina, S., Yamashiro, S., Yan, B., Yan, B., Yan, X., Yan, Z., Yanagi, Y., Yang, D-S., Yang, J-M., Yang, L., Yang, M., Yang, P-M., Yang, P., Yang, Q., Yang, W., Yang, W. Y., Yang, X., Yang, Y., Yang, Y., Yang, Z., Yang, Z., Yao, M-C., Yao, P. J., Yao, X., Yao, Z., Yao, Z., Yasui, L. S., Ye, M., Yedvobnick, B., Yeganeh, B., Yeh, E. S., Yeyati, P. L., Yi, F., Yi, L., Yin, X-M., Yip, C. K., Yoo, Y-M., Yoo, Y. H., Yoon, S-Y., Yoshida, K-I., Yoshimori, T., Young, K. H., Yu, H., Yu, J. J., Yu, J-T., Yu, J., Yu, L., Yu, W. H., Yu, X-F., Yu, Z., Yuan, J., Yuan, Z-M., Yue, B. Y. J. T., Yue, J., Yue, Z., Zacks, D. N., Zacksenhaus, E., Zaffaroni, N., Zaglia, T., Zakeri, Z., Zecchini, V., Zeng, J., Zeng, M., Zeng, Q., Zervos, A. S., Zhang, D. D., Zhang, F., Zhang, G., Zhang, G-C., Zhang, H., Zhang, H., Zhang, H., Zhang, J., Zhang, J., Zhang, J., Zhang, J-P., Zhang, L., Zhang, L., Zhang, L., Zhang, M-Y., Zhang, X., Zhang, X. D., Zhang, Y., Zhang, Y., Zhang, Y., Zhang, Y., Zhang, Y., Zhao, M., Zhao, W-L., Zhao, X., Zhao, Y. G., Zhao, Y., Zhao, Y., Zhao, Y-X., Zhao, Z., Zhao, Z. J., Zheng, D., Zheng, X-L., Zheng, X., Zhivotovsky, B., Zhong, Q., Zhou, G-Z., Zhou, G., Zhou, H., Zhou, S-F., Zhou, X-J., Zhu, H., Zhu, H., Zhu, W-G., Zhu, W., Zhu, X-F., Zhu, Y., Zhuang, S-M., Zhuang, X., Ziparo, E., Zois, C. E., Zoladek, T., Zong, W-X., Zorzano, A., Zughaier, S. M., DiAntonio, A., Lezoualc'h, F., Alguel, H., Buetikofer, P., Jaeaettelae, M., Ko, Y. H., Moller, A. B., Muenz, C., Nuernberger, T., Pavenstaedt, H., Poggeler, S., Polcic, P. & Swaerd, K., 21 Jan 2016, In: Autophagy. 12, 1, p. 1-222

    Research output: Contribution to journal › Review article › Academic › peer-review

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    4280 Citations (Scopus)

  • Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Care4Rare Canada Consortium & UCLA Clinical Genomics Center, 1 Feb 2016, In: Human mutation. 37, 2, p. 148-154 7 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

    43 Citations (Scopus)

  • Maternal Plasma DNA and RNA Sequencing for Prenatal Testing

    Tamminga, S., van Maarle, M., Henneman, L., Oudejans, C. B. M., Cornel, M. C. & Sistermans, E. A., 2016, In: Advances in Clinical Chemistry. 74, p. 63-102

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    27 Citations (Scopus)

  • Modeling psychiatric disorders: From genomic findings to cellular phenotypes

    Falk, A., Heine, V. M., Harwood, A. J., Sullivan, P. F., Peitz, M., Brüstle, O., Shen, S., Sun, Y. M., Glover, J. C., Posthuma, D. & Djurovic, S., 1 Sept 2016, In: Molecular psychiatry. 21, 9, p. 1167-1179 13 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

    64 Citations (Scopus)

  • Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

    Eggermann, T., Brioude, F., Russo, S., Lombardi, M. P., Bliek, J., Maher, E. R., Larizza, L., Prawitt, D., Netchine, I., Gonzales, M., Grønskov, K., Tümer, Z., Monk, D., Mannens, M., Chrzanowska, K., Walasek, M. K., Begemann, M., Soellner, L., Eggermann, K., Tenorio, J., & 9 othersNevado, J., Moore, G. E., Mackay, D. J., Temple, K., Gillessen-Kaesbach, G., Ogata, T., Weksberg, R., Algar, E. & Lapunzina, P., 2016, In: European journal of human genetics. 24, 6, p. 784-793

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    46 Citations (Scopus)
  • 2015

    Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature

    Paes, E. C., van Nunen, D. P. F., Basart, H., Don Griot, J. P. W., van Hagen, J. M., van der Horst, C. M. A. M., van den Boogaard, M-J. H. & Breugem, C. C., 2015, In: American journal of medical genetics. Part A. 167, 9, p. 1972-1982

    Research output: Contribution to journal › Review article › Academic › peer-review

    32 Citations (Scopus)

  • Genetic advances in sarcomeric cardiomyopathies: state of the art

    Ho, C. Y., Charron, P., Richard, P., Girolami, F., van Spaendonck-Zwarts, K. Y. & Pinto, Y., 2015, In: Cardiovascular research. 105, 4, p. 397-408

    Research output: Contribution to journal › Review article › Academic › peer-review

    171 Citations (Scopus)

  • The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

    Meuwissen, M. E. C., Halley, D. J. J., Smit, L. S., Lequin, M. H., Cobben, J. M., de Coo, R., van Harssel, J., Sallevelt, S., Woldringh, G., van der Knaap, M. S., de Vries, L. S. & Mancini, G. M. S., 2015, In: Genetics in medicine. 17, 11, p. 843-853

    Research output: Contribution to journal › Review article › Academic › peer-review

    189 Citations (Scopus)

  • The unfolded protein response in neurodegenerative diseases: a neuropathological perspective

    Scheper, W. & Hoozemans, J. J. M., 2015, In: Acta Neuropathologica. 130, 3, p. 315-331

    Research output: Contribution to journal › Review article › Academic › peer-review

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    270 Citations (Scopus)
  • 2014

    A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

    van der Tol, L., Smid, B. E., Poorthuis, B. J. H. M., Biegstraaten, M., Deprez, R. H. L., Linthorst, G. E. & Hollak, C. E. M., 2014, In: Journal of medical genetics. 51, 1, p. 1-9

    Research output: Contribution to journal › Review article › Academic › peer-review

    152 Citations (Scopus)

  • Brain connectivity in neurodegenerative diseases - From phenotype to proteinopathy

    Pievani, M., Filippini, N., Van Den Heuvel, M. P., Cappa, S. F. & Frisoni, G. B., 5 Nov 2014, In: Nature Reviews Neurology. 10, 11, p. 620-633 14 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

    231 Citations (Scopus)

  • Brain networks in schizophrenia

    Van Den Heuvel, M. P. & Fornito, A., 1 Mar 2014, In: Neuropsychology review. 24, 1, p. 32-48 17 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

    381 Citations (Scopus)

  • Brain tumors and syndromes in children

    Bleeker, F. E., Hopman, S. M. J., Merks, J. H. M., Aalfs, C. M. & Hennekam, R. C. M., 2014, In: Neuropediatrics. 45, 3, p. 137-161

    Research output: Contribution to journal › Review article › Academic › peer-review

    14 Citations (Scopus)

  • Chasing the dreams of early connectionists

    Van Den Heuvel, M. P. & De Reus, M. A., 16 Jul 2014, In: ACS Chemical Neuroscience. 5, 7, p. 491-493 3 p.

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    12 Citations (Scopus)

  • Clinical Disorders of Primary Malfunctioning of the Lymphatic System

    Bellini, C. & Hennekam, R. C. M., 2014, In: Advances in anatomy, embryology, and cell biology. 214, p. 187-204

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    21 Citations (Scopus)

  • Diagnosis and genetics of Marfan syndrome

    Franken, R., Heesterbeek, T. J., de Waard, V., Zwinderman, A. H., Pals, G., Mulder, B. J. M. & Groenink, M., 2014, In: Expert opinion on orphan drugs. 2, 10, p. 1049-1062

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    23 Citations (Scopus)

  • Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities

    van der Crabben, S. N., Harakalova, M., Brilstra, E. H., van Berkestijn, F. M. C., Hofstede, F. C., van Vught, A. J., Cuppen, E., Kloosterman, W., Ploos van Amstel, H. K., van Haaften, G. & van Haelst, M. M., Jan 2014, In: American Journal of Medical Genetics Part A. 164A, 1, p. 29-35 7 p.

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    36 Citations (Scopus)

  • Interpretation of NOTCH3 mutations in the diagnosis of CADASIL

    Rutten, J. W., Haan, J., Terwindt, G. M., Van Duinen, S. G., Boon, E. M. J. & Lesnik Oberstein, S. A. J., Jun 2014, In: Expert review of molecular diagnostics. 14, 5, p. 593-603 11 p.

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    88 Citations (Scopus)

  • Myhre and LAPS syndromes: clinical and molecular review of 32 patients

    Michot, C., Le Goff, C., Mahaut, C., Afenjar, A., Brooks, A. S., Campeau, P. M., Destree, A., Di Rocco, M., Donnai, D., Hennekam, R., Heron, D., Jacquemont, S., Kannu, P., Lin, A. E., Manouvrier-Hanu, S., Mansour, S., Marlin, S., McGowan, R., Murphy, H., Raas-Rothschild, A., & 13 othersRio, M., Simon, M., Stolte-Dijkstra, I., Stone, J. R., Sznajer, Y., Tolmie, J., Touraine, R., van den Ende, J., van der Aa, N., van Essen, T., Verloes, A., Munnich, A. & Cormier-Daire, V., 2014, In: European journal of human genetics. 22, 11, p. 1272-1277

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    38 Citations (Scopus)

  • PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

    van Paassen, B. W., van der Kooi, A. J., van Spaendonck-Zwarts, K. Y., Verhamme, C., Baas, F. & de Visser, M., 2014, In: Orphanet Journal of Rare Diseases. 9, 1, p. 38

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    110 Citations (Scopus)
  • 2013

    Assessment of system dysfunction in the brain through MRI-based connectomics

    Filippi, M., van den Heuvel, M. P., Fornito, A., He, Y., Hulshoff Pol, H. E., Agosta, F., Comi, G. & Rocca, M. A., 1 Dec 2013, In: The Lancet Neurology. 12, 12, p. 1189-1199 11 p.

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    175 Citations (Scopus)

  • Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies

    Boon, E. M. J. & Faas, B. H. W., Jun 2013, In: Prenatal diagnosis. 33, 6, p. 563-568 6 p.

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    46 Citations (Scopus)

  • Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7

    van Engelen, K., Postma, A. V., van de Meerakker, J. B. A., Roos-Hesselink, J. W., Helderman-Van den Enden, A. T. J. M., Vliegen, H. W., Rahman, T., Baars, M. J. H., Sels, J. W., Bauer, U., Pickardt, T., Sperling, S. R., Moorman, A. F. M., Keavney, B., Goodship, J., Klaassen, S. & Mulder, B. J. M., Mar 2013, In: Netherlands heart journal. 21, 3, p. 113-117 5 p.

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    24 Citations (Scopus)

  • Glutamate in schizophrenia: A focused review and meta-analysis of 1H-MRS studies

    Marsman, A., Van Den Heuvel, M. P., Klomp, D. W. J., Kahn, R. S., Luijten, P. R. & Hulshoff Pol, H. E., 1 Jan 2013, In: Schizophrenia Bulletin. 39, 1, p. 120-129 10 p.

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    345 Citations (Scopus)

  • Mechanistic basis of desmosome-targeted diseases

    Al-Jassar, C., Bikker, H., Overduin, M. & Chidgey, M., 2013, In: Journal of Molecular Biology. 425, 21, p. 4006-4022

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    78 Citations (Scopus)

  • Network hubs in the human brain

    van den Heuvel, M. P. & Sporns, O., 1 Dec 2013, In: Trends in cognitive sciences. 17, 12, p. 683-696 14 p.

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    1399 Citations (Scopus)

  • On development of functional brain connectivity in the young brain

    Hoff, G. E. A. J., Van den Heuvel, M. P., Benders, M. J. N. L., Kersbergen, K. J. & De Vries, L. S., 8 Oct 2013, In: Frontiers in human neuroscience. OCT, 650.

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    68 Citations (Scopus)

  • The clinical and molecular relations between idiopathic preterm labor and maternal congenital heart defects

    de Laat, M. W. M., Pieper, P. G., Oudijk, M. A., Mulder, B. J. M., Christoffels, V. M., Afink, G. B., Postma, A. V. & Ris-Stalpers, C., 2013, In: Reproductive sciences (Thousand Oaks, Calif.). 20, 2, p. 190-201

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    7 Citations (Scopus)
  • 2012

    Diagnostic accuracy of noninvasive detection of fetal trisomy 21 in maternal blood: A systematic review

    Verweij, E. J., Van Den Oever, J. M. E., De Boer, M. A., Boon, E. M. J. & Oepkes, D., Mar 2012, In: Fetal Diagnosis and Therapy. 31, 2, p. 81-86 6 p.

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    Open Access
    28 Citations (Scopus)

  • Diagnostic value of serum hCG on the outcome of pregnancy of unknown location: a systematic review and meta-analysis: a systematic review and meta-analysis

    van Mello, N. M., Mol, F., Opmeer, B. C., Ankum, W. M., Barnhart, K., Coomarasamy, A., Mol, B. W., van der Veen, F. & Hajenius, P. J., 8 Sept 2012, In: Human Reproduction Update. 18, 6, p. 603-617 15 p.

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    57 Citations (Scopus)

  • Genetics of dementia: Update and guidelines for the clinician

    Cohn-Hokke, P. E., Elting, M. W., Pijnenburg, Y. A. L. & van Swieten, J. C., Sept 2012, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 159 B, 6, p. 628-643 16 p.

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    37 Citations (Scopus)

  • Genetics of early miscarriage

    van den Berg, M. M. J., van Maarle, M. C., van Wely, M. & Goddijn, M., 2012, In: Biochimica et Biophysica Acta-Molecular Basis of Disease. 1822, 12, p. 1951-1959

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    203 Citations (Scopus)

  • Region and state specific glutamate downregulation in major depressive disorder: A meta-analysis of 1H-MRS findings

    Luykx, J. J., Laban, K. G., van den Heuvel, M. P., Boks, M. P. M., Mandl, R. C. W., Kahn, R. S. & Bakker, S. C., 1 Jan 2012, In: Neuroscience and Biobehavioral Reviews. 36, 1, p. 198-205 8 p.

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    157 Citations (Scopus)

  • The usefulness of brain natriuretic peptide in complex congenital heart disease: a systematic review

    Eindhoven, J. A., van den Bosch, A. E., Jansen, P. R., Boersma, E. & Roos-Hesselink, J. W., 20 Nov 2012, In: Journal of the American College of Cardiology. 60, 21, p. 2140-9 10 p.

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  • The Usefulness of brain natriuretic peptide in complex congenital heart disease: A systematic review

    Eindhoven, J. A., Van Den Bosch, A. E., Jansen, P. R., Boersma, E. & Roos-Hesselink, J. W., 2012, In: Journal of the American College of Cardiology. 60, 21, p. 2140-2149 10 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

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    139 Citations (Scopus)

  • Thrombophilia testing for prevention of recurrent venous thromboembolism

    Cohn, D. M., Vansenne, F., de Borgie, C. A. & Middeldorp, S., 2012, In: Cochrane database of systematic reviews (Online). 2012, 12, p. CD007069

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    32 Citations (Scopus)

  • Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature

    de Groot-van der Mooren, M. D., Haak, M. C., Lakeman, P., Cohen-Overbeek, T. E., van der Voorn, J. P., Bretschneider, J. H. & van Elburg, R. M., 2012, In: European journal of pediatrics. 171, 3, p. 425-431

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    66 Citations (Scopus)
  • 2011

    Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

    Van Es, M. A., Schelhaas, H. J., Van Vught, P. W. J., Ticozzi, N., Andersen, P. M., Groen, E. J. N., Schulte, C., Blauw, H. M., Koppers, M., Diekstra, F. P., Fumoto, K., Leclerc, A. L., Keagle, P., Bloem, B. R., Scheffer, H., Van Nuenen, B. F. L., Van Blitterswijk, M., Van Rheenen, W., Wills, A-M., Lowe, P. P., & 36 othersHu, G-F., Yu, W., Kishikawa, H., Wu, D., Folkerth, R. D., Mariani, C., Goldwurm, S., Pezzoli, G., Van Damme, P., Lemmens, R., Dahlberg, C., Birve, A., Fernández-Santiago, R., Waibel, S., Klein, C., Weber, M., Van Der Kooi, A. J., De Visser, M., Verbaan, D., Van Hilten, J. J., Heutink, P., Hennekam, E. A. M., Cuppen, E., Berg, D., Brown Jr., R. H., Silani, V., Gasser, T., Ludolph, A. C., Robberecht, W., Ophoff, R. A., Veldink, J. H., Pasterkamp, R. J., De Bakker, P. I. W., Landers, J. E., Van De Warrenburg, B. P. & Van Den Berg, L. H., Dec 2011, In: Annals of neurology. 70, 6, p. 964-973

    Research output: Contribution to journal › Review article › Academic › peer-review

    164 Citations (Scopus)

  • Co-Occurrence of Severe Goltz-Gorlin Syndrome and Pentalogy of Cantrell - Case Report and Review of the Literature

    Smigiel, R., Jakubiak, A., Lombardi, M. P., Jaworski, W., Slezak, R., Patkowski, D. & Hennekam, R. C., 2011, In: American journal of medical genetics. Part A. 155A, 5, p. 1102-1105

    Research output: Contribution to journal › Review article › Academic › peer-review

    45 Citations (Scopus)

  • Developmental aspects of cardiac arrhythmogenesis

    Postma, A. V., Christoffels, V. M. & Bezzina, C. R., 2011, In: Cardiovascular research. 91, 2, p. 243-251

    Research output: Contribution to journal › Review article › Academic › peer-review

    19 Citations (Scopus)