drs. E.H. (Erica) Gerkes
Clinical geneticist
Telephone:
E-mail:
e.h.gerkes umcg.nl
Publications
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Talarico, M., de Bellescize, J., De Wachter, M., Le Guillou, X., Le
Meur, G., Egloff, M., Isidor, B., Cogné, B., Beysen, D.,
Rollier, P., Fradin, M., Pasquier, L., Guella, I., Hickey, S. E.,
Benke, P. J., Shillington, A., Kumps, C., Vanakker, O., Gerkes, E. H. & Lakhani, S. & 30 others, Romanova,
I., Kanivets, I., Brugger, M., Vill, K., Caylor, R. C., Skinner,
C., Tinker, R. J., Stödberg, T., Nümann, A., Haack, T.
B., Deininger, N., Hengel, H., Jury, J., Conrad, S., Mercier, S.,
Yoon, G., Tsuboyama, M., Barcia, G., Gitiaux, C., Rio, M., Bevot,
A., Redon, S., Uguen, K., Wonneberger, A., Schulz, A., Timmann, D.,
Karlowicz, D. H., Chatron, N., Carnevale, A. & Mahida,
S., Apr-2025, In: Genetics in Medicine. 27, 4,
13 p., 101347.
Research output: Contribution to journal › Article › Academic › peer-review
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): Genotype and phenotype of 22 patients with ZNF148 mutations
Szakszon, K., Lourenco, C. M., Callewaert, B. L., Geneviève,
D., Rouxel, F., Morin, D., Denommé-Pichon, A. S., Vitobello,
A., Patterson, W., Louie, R., Pinto E Vairo, F., Klee, E., Kaiwar,
C., Gavrilova, R. H., Agre, K. E., Jacquemont, S., Khadijé,
J., Giltay, J., Van Gassen, K. & Mer ', G. & 27 others, Gerkes, E., Van Bon, B. W., Rinne, T.,
Pfundt, R., Brunner, H. G., Caluseriu, O., Grasshoff, U., Kehrer,
M., Haack, T. B., Khelifa, M. M., Bergmann, A. K.,
Cueto-González, A. M., Martorell, A. C., Ramachandrappa, S.,
Sawyer, L. B., Fasel, P., Braun, D., Isis, A., Superti-Furga, A.,
McNiven, V., Chitayat, D., Ahmed, S. A., Brennenstuhl, H.,
Schwaibolf, E. M. C., Battisti, G., Parmentier, B. & Stevens,
S. J. C., 19-Jan-2024, In: Journal of Medical
Genetics. 61, p. 132-141 10
p.
Research output: Contribution to journal › Article › Academic › peer-review
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
Karimi, K., Mol, M. O., Haghshenas, S., Relator, R., Levy, M. A.,
Kerkhof, J., McConkey, H., Brooks, A., Zonneveld-Huijssoon, E., Gerkes, E. H., Tedder, M. L., Vissers, L.,
Salzano, E., Piccione, M., Asaftei, S. D., Carli, D., Mussa, A.,
Shukarova-Angelovska, E., Trajkova, S. & Brusco, A. & 4 others, Merla,
G., Alders, M. M., Bouman, A. & Sadikovic, B., Mar-2024, In:
Genetics in Medicine. 26, 3,
14 p., 101041.
Research output: Contribution to journal › Article › Academic › peer-review
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
Rots, D., Choufani, S., Faundes, V., Dingemans, A. J. M., Joss, S.,
Foulds, N., Jones, E. A., Stewart, S., Vasudevan, P., Dabir, T.,
Park, S.-M., Jewell, R., Brown, N., Pais, L., Jacquemont, S., Jizi,
K., Ravenswaaij-Arts, C. M. A. V.,
Kroes, H. Y., Stumpel, C. T. R. M. & Ockeloen, C. W. & 84 others, Diets,
I. J., Nizon, M., Vincent, M., Cogné, B., Besnard, T.,
Kambouris, M., Anderson, E., Zackai, E. H., McDougall, C.,
Donoghue, S., O'Donnell-Luria, A., Valivullah, Z., O'Leary, M.,
Srivastava, S., Byers, H., Leslie, N., Mazzola, S., Tiller, G. E.,
Vera, M., Shen, J. J., Boles, R., Jain, V., Brischoux-Boucher, E.,
Kinning, E., Simpson, B. N., Giltay, J. C., Harris, J., Keren, B.,
Guimier, A., Marijon, P., Vries, B. B. A. D., Motter, C. S.,
Mendelsohn, B. A., Coffino, S., Gerkes, E.
H., Afenjar, A., Visconti, P., Bacchelli, E., Maestrini, E.,
Delahaye-Duriez, A., Gooch, C., Hendriks, Y., Adams, H.,
Thauvin-Robinet, C., Josephi-Taylor, S., Bertoli, M., Parker, M.
J., Rutten, J. W., Caluseriu, O., Vernon, H. J., Kaziyev, J., Zhu,
J., Kremen, J., Frazier, Z., Osika, H., Breault, D., Nair, S.,
Lewis, S. M. E., Ceroni, F., Viggiano, M., Posar, A., Brittain, H.,
Giovanna, T., Giulia, G., Quteineh, L., Ha-Vinh Leuchter, R., Zonneveld-Huijssoon, E., Mellado, C., Marey,
I., Coudert, A., Aracena Alvarez, M. I., Kennis, M. G. P., Bouman,
A., Roifman, M., Amorós Rodríguez, M. I.,
Ortigoza-Escobar, J. D., Vernimmen, V., Sinnema, M., Pfundt, R.,
Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Weksberg, R.
& Banka, S., 8-Aug-2024, In: American Journal of Human
Genetics. 111, 8, p.
1626-1642 18 p.
Research output: Contribution to journal › Article › Academic › peer-review
Amniotic band syndrome and limb body wall complex in Europe 1980-2019
Bergman, J. E. H., Barišić,
I., Addor, M.-C., Braz, P., Cavero-Carbonell, C., Draper, E. S.,
Echevarría-González-de-Garibay, L. J., Gatt, M.,
Haeusler, M., Khoshnood, B., Klungsøyr, K., Kurinczuk, J. J.,
Latos-Bielenska, A., Luyt, K., Martin, D., Mullaney, C., Nelen, V.,
Neville, A. J., O'Mahony, M. T. & Perthus, I. & 16 others, Pierini,
A., Randrianaivo, H., Rankin, J., Rissmann, A., Rouget, F., Sayers,
G., Schaub, B., Stevens, S., Tucker, D., Verellen-Dumoulin, C.,
Wiesel, A., Gerkes, E. H., Perraud, A.,
Loane, M. A., Wellesley, D. & de Walle, H.
E. K., Apr-2023, In: American Journal of Medical Genetics.
Part A. 191, 4, p.
995-1006 12 p.
Research output: Contribution to journal › Article › Academic › peer-review
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A.
M., Gerkes, E. H., Stegmann, A. P. A.,
López-Martín, E., Bermejo-Sánchez, E.,
Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B.,
Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S.
& Abriata, L. A. & 65 others, Kunnathully,
V., Moeller, B. E., Vocat, A., Rommelaere, S., Bocquete, J. P.,
Ruchti, E., Limoni, G., Van Campenhoudt, M., Bourgeat, S.,
Henklein, P., Gilissen, C., van Bon, B. W., Pfundt, R., Willemsen,
M. H., Schieving, J. H., Leonardi, E., Soli, F., Murgia, A., Guo,
H., Zhang, Q., Xia, K., Fagerberg, C. R., Beier, C. P., Larsen, M.
J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S.,
Śmigiel, R., López-González, V., Armengol, L.,
Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N. S.,
Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A. L.,
Mau-Them, F. T., Maddocks, A. B. R., Bain, J. M., Bhat, M. A.,
Costain, G., Kannu, P., Marwaha, A., Champaigne, N. L., Friez, M.
J., Richardson, E. B., Gowda, V. K., Srinivasan, V. M., Gupta, Y.,
Lim, T. Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada,
K., Burke, J. E., Jakšić, A. M., McCabe, B. D., De Los
Rios, P., Hornemann, T., D’Angelo, G. & Gennarino, V.
A., 15-May-2023, In: Journal of Clinical
Investigation. 133, 10, 17
p., e165019.
Research output: Contribution to journal › Article › Academic › peer-review
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach,
T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson,
E. C., Ahlers, K. P., Arts, P., Barnett, C. P., Ashfaq, M., Baban,
A., van den Born, M., Borrie, S., Busa, T., Byrne, A., Carriero, M.
& Cesario, C. & 35 others, Chong,
K., Cueto-González, A. M., Dempsey, J. C., Diderich, K. E. M.,
Doherty, D., Farholt, S., Gerkes, E.
H., Gorokhova, S., Govaerts, L. C. P., Gregersen, P. A.,
Hickey, S. E., Lefebvre, M., Mari, F., Martinovic, J., Northrup,
H., O'Leary, M., Parbhoo, K., Patrier, S., Popp, B.,
Santos-Simarro, F., Stoltenburg, C., Thauvin-Robinet, C., Thompson,
E., Vulto-van Silfhout, A. T., Zahir, F. R., Scott, H. S., Earl, R.
K., Eichler, E. E., Vora, N. L., Wilnai, Y., Giordano, J. L.,
Wapner, R. J., Rosenfeld, J. A., Haak, M. C. & Santen, G. W.
E., Aug-2022, In: Genetics in Medicine. 24, 8,
p. 1753-1760 8 p.
Research output: Contribution to journal › Article › Academic › peer-review
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Dingemans, A. J. M., Truijen, K. M. G., Kim, J.-H., Alacam, Z.,
Faivre, L., Collins, K. M., Gerkes, E.
H., van Haelst, M., van de Laar, I. M. B. H., Lindstrom, K.,
Nizon, M., Pauling, J., Heropolitanska-Pliszka, E., Plomp, A. S.,
Racine, C., Sachdev, R., Sinnema, M., Skranes, J., Veenstra-Knol, H. E. & Verberne, E. A. & 5 others, Vulto-van
Silfhout, A. T., Wilsterman, M. E. F., Ahn, E.-Y. E., de Vries, B.
B. A. & Vissers, L. E. L. M., 2022, In: European
Journal of Human Genetics. p.
271–281 11 p.
Research output: Contribution to journal › Article › Academic › peer-review
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Vegas, N., Demir, Z., Gordon, C. T., Breton, S., Tavares, V. L. R.,
Moisset, H., Zechi-Ceide, R., Kokitsu-Nakata, N. M., Kido, Y.,
Marlin, S., Halem, S. G., Meerschaut, I., Callewaert, B., Chung,
B., Revencu, N., Lehalle, D., Petit, F., Propst, E. J., Papsin, B.
C. & Phillips, J. H. & 17 others, Jakobsen,
L., Le Tanno, P., Thevenon, J., McGaughran, J., Gerkes, E. H., Leoni, C., Kroisel, P., Tan,
T. Y., Henderson, A., Terhal, P., Basel-Salmon, L., Alkindy, A.,
White, S. M., Passos-Bueno, M. R., Pingault, V., De Pontual, L.
& Amiel, J., May-2022, In: Human Mutation. 43, 5,
p. 582-594 13 p.
Research output: Contribution to journal › Article › Academic › peer-review
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Cuinat, S., Nizon, M., Isidor, B., Stegmann, A., van Jaarsveld, R.
H., van Gassen, K. L., van der Smagt, J. J., Volker-Touw, C. M. L.,
Holwerda, S. J. B., Terhal, P. A., Schuhmann, S., Vasileiou, G.,
Khalifa, M., Nugud, A. A., Yasaei, H., Ousager, L. B.,
Brasch-Andersen, C., Deb, W., Besnard, T. & Simon, M. E. H. & 31 others, Amsterdam,
K. H. V., Verbeek, N. E., Matalon, D., Dykzeul, N., White, S.,
Spiteri, E., Devriendt, K., Boogaerts, A., Willemsen, M., Brunner,
H. G., Sinnema, M., De Vries, B. B. A., Gerkes, E. H., Pfundt, R., Izumi, K., Krantz,
I. D., Xu, Z. L., Murrell, J. R., Valenzuela, I., Cusco, I.,
Rovira-Moreno, E., Yang, Y., Bizaoui, V., Patat, O., Faivre, L.,
Tran-Mau-Them, F., Vitobello, A., Denommé-Pichon, A. S.,
Philippe, C., Bezieau, S. & Cogné, B., Aug-2022, In:
Genetics in Medicine. 24, 8,
p. 1774-1780 7 p.
Research output: Contribution to journal › Article › Academic › peer-review