Human Genetics

Genetic susceptibility for breast cancer: how many more genes to be found?

Oldenburg, R. A., Meijers-Heijboer, H., Cornelisse, C. J. & Devilee, P., 2007, In: Critical Reviews in Oncology/Hematology. 63, 2, p. 125-149

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

100 Citations (Scopus)

Genetic testing in cardiovascular diseases

Hofman, N., van Langen, I. & Wilde, A. A. M., 2010, In: Current opinion in cardiology. 25, 3, p. 243-248

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

10 Citations (Scopus)

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

Jongmans, M., Sistermans, E. A., Rikken, A., Nillesen, W. M., Tamminga, R., Patton, M., Maier, E. M., Tartaglia, M., Noordam, K. & Van Der Burgt, I., 15 Apr 2005, In: American journal of medical genetics. 134 A, 2, p. 165-170 6 p.

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

100 Citations (Scopus)

Getting there: understanding the chromosomal recruitment of the AAA+ ATPase Pch2/TRIP13 during meiosis

Cardoso da Silva, R. & Vader, G., Aug 2021, In: Current genetics. 67, 4, p. 553-565 13 p.

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

Open Access

6 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.

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

Open Access

346 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. H., Kandouz, M., Kang, C., Kang, R., Kang, T-C., Kanki, T., Kanneganti, T-D., Kanno, H., Kanthasamy, A. G., Kantorow, M., Kaparakis-Liaskos, M., Kapuy, O., Karantza, V., Karim, M. R., Karmakar, P., Kaser, A., Kaushik, S., Kawula, T., Kaynar, A. M., Ke, P-Y., Ke, Z-J., Kehrl, J. H., Keller, K. E., Kemper, J. K., Kenworthy, A. K., Kepp, O., Kern, A., Kesari, S., Kessel, D., Ketteler, R., Kettelhut, I. C., Khambu, B., Khan, M. M., Khandelwal, V. K. M., Khare, S., Kiang, J. G., Kiger, A. A., Kihara, A., Kim, A. L., Kim, C. H., Kim, D. R., Kim, D-H., Kim, E. K., Kim, H. Y., Kim, H-R., Kim, J-S., Kim, J. H., Kim, J. C., Kim, J. H., Kim, K. W., Kim, M. D., Kim, M-M., Kim, P. K., Kim, S. W., Kim, S-Y., Kim, Y-S., Kim, Y., Kimchi, A., Kimmelman, A. C., Kimura, T., King, J. S., Kirkegaard, K., Kirkin, V., Kirshenbaum, L. A., Kishi, S., Kitajima, Y., Kitamoto, K., Kitaoka, Y., Kitazato, K., Kley, R. A., Klimecki, W. T., Klinkenberg, M., Klucken, J., Knævelsrud, H., Knecht, E., Knuppertz, L., Ko, J-L., Kobayashi, S., Koch, J. C., Koechlin-Ramonatxo, C., Koenig, U., Koh, Y. H., Köhler, K., Kohlwein, S. D., Koike, M., Komatsu, M., Kominami, E., Kong, D., Kong, H. J., Konstantakou, E. G., Kopp, B. T., Korcsmaros, T., Korhonen, L., Korolchuk, V. I., Koshkina, N. V., Kou, Y., Koukourakis, M. I., Koumenis, C., Kovács, A. L., Kovács, T., Kovacs, W. J., Koya, D., Kraft, C., Krainc, D., Kramer, H., Kravic-Stevovic, T., Krek, W., Kretz-Remy, C., Krick, R., Krishnamurthy, M., Kriston-Vizi, J., Kroemer, G., Kruer, M. C., Kruger, R., Ktistakis, N. T., Kuchitsu, K., Kuhn, C., Kumar, A. P., Kumar, A., Kumar, A., Kumar, D., Kumar, D., Kumar, R., Kumar, S., Kundu, M., Kung, H-J., Kuno, A., Kuo, S-H., Kuret, J., Kurz, T., Kwok, T., Kwon, T. K., Kwon, Y. T., Kyrmizi, I., La Spada, A. R., Lafont, F., Lahm, T., Lakkaraju, A., Lam, T., Lamark, T., Lancel, S., Landowski, T. H., Lane, D. J. R., Lane, J. D., Lanzi, C., Lapaquette, P., Lapierre, L. R., Laporte, J., Laukkarinen, J., Laurie, G. W., Lavandero, S., Lavie, L., Lavoie, M. J., Law, B. Y. K., Law, HK-W., Law, K. B., Layfield, R., Lazo, P. A., Le Cam, L., Le Roch, K. G., Le Stunff, H., Leardkamolkarn, V., Lecuit, M., Lee, B-H., Lee, C-H., Lee, E. F., Lee, G. M., Lee, H-J., Lee, H., Lee, J. H., Lee, J., Lee, J-H., Lee, J. H., Lee, M., Lee, M-S., Lee, P. J., Lee, S. W., Lee, S-J., Lee, S-J., Lee, S. Y., Lee, S. H., Lee, S. S., Lee, S-J., Lee, S., Lee, Y-R., Lee, Y. J., Lee, Y. H., Leeuwenburgh, C., Lefort, S., Legouis, R., Lei, J., Lei, Q-Y., Leib, D. A., Leibowitz, G., Lekli, I., Lemaire, S. D., Lemasters, J. J., Lemberg, M. K., Lemoine, A., Leng, S., Lenz, G., Lenzi, P., Lerman, L. O., Barbato, D. L., Leu, J. I. J., Leung, H. Y., Levine, B., Lewis, P. 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B., Muenz, C., Nuernberger, T., Pavenstaedt, H., Poggeler, S., Polcic, P. & Swaerd, K., 21 Jan 2016, In: Autophagy. 12, 1, p. 1-222

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How to inform relatives at risk of hereditary diseases? A mixed-methods systematic review on patient attitudes

van den Heuvel, L. M., Smets, E. M. A., van Tintelen, J. P. & Christiaans, I., 1 Oct 2019, In: Journal of genetic counseling. 28, 5, p. 1042-1058 17 p.

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Wortmann, S. B., Oud, M. M., Alders, M., Coene, K. L. M., van der Crabben, S. N., Feichtinger, R. G., Garanto, A., Hoischen, A., Langeveld, M., Lefeber, D., Mayr, J. A., Ockeloen, C. W., Prokisch, H., Rodenburg, R., Waterham, H. R., Wevers, R. A., van de Warrenburg, B. P. C., Willemsen, M. A. A. P., Wolf, N. I., Vissers, L. E. L. M., & 1 othersvan Karnebeek, C. D. M., Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 663-681 19 p.

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Human fibroblasts as a model for the study of bone disorders

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Idiopathic impaired spermatogenesis: genetic epidemiology is unlikely to provide a short-cut to better understanding

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Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II

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Increased nuchal translucency in euploid fetuses - What should we be telling the parents?

Bilardo, C. M., Timmerman, E., Pajkrt, E. & van Maarle, M., 2010, In: Prenatal diagnosis. 30, 2, p. 93-102

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Ferreira, E. A., Buijs, M. J. N., Wijngaard, R., Daams, J. G., Datema, M. R., Engelen, M., van Karnebeek, C. D. M., Oud, M. M., Vaz, F. M., Wamelink, M. M. C., van der Crabben, S. N. & Langeveld, M., 2023, In: Frontiers in Neurology. 14, p. 1206106 1206106.

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International consensus statement on the peri-operative management of direct oral anticoagulants in cardiac surgery

Erdoes, G., Martinez Lopez De Arroyabe, B., Bolliger, D., Ahmed, A. B., Koster, A., Agarwal, S., Boer, C. & von Heymann, C., 2018, In: Anaesthesia. 73, 12, p. 1535-1545 11 p.

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International perspectives on the implementation of reproductive carrier screening

Delatycki, M. B., Alkuraya, F., Archibald, A., Castellani, C., Cornel, M., Grody, W. W., Henneman, L., Ioannides, A. S., Kirk, E., Laing, N., Lucassen, A., Massie, J., Schuurmans, J., Thong, M-K., van Langen, I. & Zlotogora, J., 1 Feb 2020, In: Prenatal diagnosis. 40, 3, p. 301-310 10 p.

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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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Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature

de Ru, M. H., Gille, J. J. P., Nieuwint, A. W. M., Bijlsma, J. B., van der Blij, J. F. & van Hagen, J. M., 15 Aug 2005, In: American Journal of Medical Genetics Part A. 137, 1, p. 81-7 7 p.

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Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature

Verdonk, S. J. E., Storoni, S., Micha, D., van den Aardweg, J. G., Versacci, P., Celli, L., de Vries, R., Zhytnik, L., Kamp, O., Bugiani, M. & Eekhoff, E. M. W., Mar 2024, In: Calcified tissue international. 114, 3, p. 210-221 12 p.

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Keeping ribosomal DNA intact: a repeating challenge

Warmerdam, D. O. & Wolthuis, R. M. F., 15 Mar 2019, In: Chromosome research. 27, 1-2, p. 57-72

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Key Implications of Data Sharing in Pediatric Genomics

Rahimzadeh, V., Schickhardt, C., Knoppers, B. M., Senecal, K., Vears, D. F., Fernandez, C. V., Pfister, S., Plon, S., Terry, S., Williams, J., Williams, M. S., Cornel, M. & Friedman, J., May 2018, In: JAMA pediatrics. 172, 5, p. 476-481 6 p.

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Killing cancer by targeting genes that cancer cells have lost: Allele-specific inhibition, a novel approach to the treatment of genetic disorders

Fluiter, K., Housman, D., ten Asbroek, A. L. M. A. & Baas, F., 2003, In: Cellular and molecular life sciences. 60, 5, p. 834-843

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van Balkom, I. D. C., Alders, M., Allanson, J., Bellini, C., Frank, U., de Jong, G., Kolbe, I., Lacombe, D., Rockson, S., Rowe, P., Wijburg, F. & Hennekam, R. C. M., 2002, In: American journal of medical genetics. 112, 4, p. 412-421

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91 Citations (Scopus)

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

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Maternal Plasma DNA and RNA Sequencing for Prenatal Testing

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Mechanistic basis of desmosome-targeted diseases

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Meta-Analysis of in vitro-Differentiated Macrophages Identifies Transcriptomic Signatures That Classify Disease Macrophages in vivo

Chen, H-J., Li Yim, A. Y. F., Griffith, G. R., de Jonge, W. J., Mannens, M. M. A. M., Ferrero, E., Henneman, P. & de Winther, M. P. J., 2019, In: Frontiers in immunology. 10, 2887.

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Metabolic mapping of proteinase activity with emphasis on in situ zymography of gelatinases: Review and protocols

Frederiks, W. M. & Mook, O. R. F., 2004, In: Journal of Histochemistry and Cytochemistry. 52, 6, p. 711-722

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108 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.

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Multimodal Connectomics in Psychiatry: Bridging Scales From Micro to Macro

Scholtens, L. H. & van den Heuvel, M. P., Sept 2018, In: Biological psychiatry : Cognitive neuroscience and neuroimaging. 3, 9, p. 767-776 10 p.

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Multiple Ca2+ sensors in secretion: Teammates, competitors or autocrats?

Walter, A. M., Groffen, A. J., Sørensen Jakob B., J. B., Verhage, M. & Sorensen, J. B., Sept 2011, In: Trends in Neurosciences. 34, 9, p. 487-497 11 p.

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Multiscale Neuroscience of Psychiatric Disorders

van den Heuvel, M., Scholtens, L. & Kahn, R., 1 Oct 2019, In: Biological Psychiatry. 86, 7, p. 512-522 11 p.

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Mutation in the KCNQ1 gene leading to the short QT-interval syndrome

Bellocq, C., van Ginneken, A. C. G., Bezzina, C. R., Alders, M., Escande, D., Mannens, M. M. A. M., Baró, I. & Wilde, A. A. M., 2004, In: Circulation. 109, 20, p. 2394-2397

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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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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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Numerical variation of nucleolar organizer regions after silver staining in domestic and wild Suidae (Mammalia)

MELLINK, C. H. M., BOSMA, A. A., de HAAN, N. A. & MACDONALD, A. A., Jun 1992, In: Animal genetics. 23, 3, p. 231-239 9 p.

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Treurniet, S., Burger, P., Ghyczy, E. A. E., Verbraak, F. D., Curro- Tafili, K. R., Micha, D., Bravenboer, N., Ralston, S. H., de Vries, R., Moll, A. C. & Eekhoff, E. M. W., Feb 2022, In: Acta ophthalmologica. 100, 1, p. e16-e28

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Of microbe and man: determinants of Helicobacter pylori-related diseases

van Amsterdam, K., van Vliet, A. H. M., Kusters, J. G. & van der Ende, A., 2006, In: FEMS microbiology reviews. 30, 1, p. 131-156

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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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Bergen, A. A., Arya, S., Koster, C., Pilgrim, M. G., Wiatrek-Moumoulidis, D., van der Spek, P. J., Hauck, S. M., Boon, C. J. F., Emri, E., Stewart, A. J. & Lengyel, I., 1 May 2019, In: Progress in Retinal and Eye Research. 70, p. 55-84 30 p.

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Osteogenesis imperfecta: A review with clinical examples

Van Dijk, F. S., Cobben, J. M., Kariminejad, A., Maugeri, A., Nikkels, P. G. J., Van Rijn, R. R. & Pals, G., Dec 2011, In: Molecular syndromology. 2, 1, p. 1-20 20 p.

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Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review

Storoni, S., Treurniet, S., Micha, D., Celli, M., Bugiani, M., van den Aardweg, J. G. & Eekhoff, E. M. W., 2021, In: Annals of Medicine. 53, 1, p. 1676-1687 12 p.

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Personalized medicine for rare neurogenetic disorders: can we make it happen?

van Eeghen, A. M., Bruining, H., Wolf, N. I., Bergen, A. A., Houtkooper, R. H., van Haelst, M. M. & van Karnebeek, C. D., 1 Feb 2022, In: Cold Spring Harbor molecular case studies. 8, 2, a006200.

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Sáez González, M., Kloosterhuis, K., van de Pol, L., Baas, F. & Mikkers, H., 2023, In: Human mutation. 2023, 6628283.

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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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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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Prevalence and Phenotypic Impact of Robertsonian Translocations

Hochstenbach, PFR. & Poot, M., 2021, In: Molecular syndromology. 12, 1, p. 1-11 11 p., PMID: 33776621.

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Proposal for Updating the Pseudoxanthoma Elasticum Classification System and a Review of the Clinical Findings

Plomp, A. S., Toonstra, J., Bergen, A. A. B., van Dijk, M. R. & de Jong, P. T. V. M., 2010, In: American journal of medical genetics. Part A. 152A, 4, p. 1049-1058

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Pseudoxanthoma elasticum: A clinical, histopathological, and molecular update

Hu, X., Plomp, A. S., van Soest, S., Wijnholds, J., de Jong, P. T. V. M. & Bergen, A. A. B., 2003, In: Survey of ophthalmology. 48, 4, p. 424-438

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