Joubert syndrome: genotyping a Northern European patient cohort

por Kroes, Hester Y, Monroe, Glen R, van der Zwaag, Bert, Duran, Karen J, de Kovel, Carolien G, van Roosmalen, Mark J, Harakalova, Magdalena, Nijman, Ies J, Kloosterman, Wigard P, Giles, Rachel H, Knoers, Nine VAM, van Haaften, Gijs
Publicado en Eur J Hum Genet (2016)

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

por Hynes, Ann Marie, Giles, Rachel H., Srivastava, Shalabh, Eley, Lorraine, Whitehead, Jennifer, Danilenko, Marina, Raman, Shreya, Slaats, Gisela G., Colville, John G., Ajzenberg, Henry, Kroes, Hester Y., Thelwall, Peter E., Simmons, Nicholas L., Miles, Colin G., Sayer, John A.
Publicado 2014

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

por Coppieters, Frauke, Casteels, Ingele, Meire, Françoise, De Jaegere, Sarah, Hooghe, Sally, van Regemorter, Nicole, Van Esch, Hilde, Matulevičienė, Aušra, Nunes, Luis, Meersschaut, Valérie, Walraedt, Sophie, Standaert, Lieve, Coucke, Paul, Hoeben, Heidi, Kroes, Hester Y, Vande Walle, Johan, de Ravel, Thomy, Leroy, Bart P, De Baere, Elfride
Publicado 2010

Non-invasive sources of cells with primary cilia from pediatric and adult patients

por Ajzenberg, Henry, Slaats, Gisela G., Stokman, Marijn F., Arts, Heleen H., Logister, Ive, Kroes, Hester Y., Renkema, Kirsten Y., van Haelst, Mieke M., Terhal, Paulien A., van Rooij, Iris A., Keijzer-Veen, Mandy G., Knoers, Nine V., Lilien, Marc R., Jewett, Michael A., Giles, Rachel H.
Publicado en Cilia (2015)

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

por Coene, Karlien L.M., Roepman, Ronald, Doherty, Dan, Afroze, Bushra, Kroes, Hester Y., Letteboer, Stef J.F., Ngu, Lock H., Budny, Bartlomiej, van Wijk, Erwin, Gorden, Nicholas T., Azhimi, Malika, Thauvin-Robinet, Christel, Veltman, Joris A., Boink, Mireille, Kleefstra, Tjitske, Cremers, Frans P.M., van Bokhoven, Hans, de Brouwer, Arjan P.M.
Publicado 2009

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

por Littink, Karin W., Koenekoop, Robert K., van den Born, L. Ingeborgh, Collin, Rob W. J., Moruz, Luminita, Veltman, Joris A., Roosing, Susanne, Zonneveld, Marijke N., Omar, Amer, Darvish, Mahshad, Lopez, Irma, Kroes, Hester Y., van Genderen, Maria M., Hoyng, Carel B., Rohrschneider, Klaus, van Schooneveld, Mary J., Cremers, Frans P. M., den Hollander, Anneke I.
Publicado 2010

Healthcare recommendations for Joubert syndrome

por Bachmann-Gagescu, Ruxandra, Dempsey, Jennifer C., Bulgheroni, Sara, Chen, Maida L., D'Arrigo, Stefano, Glass, Ian A., Heller, Theo, Héon, Elise, Hildebrandt, Friedhelm, Joshi, Nirmal, Knutzen, Dana, Kroes, Hester Y., Mack, Stephen H., Nuovo, Sara, Parisi, Melissa A., Snow, Joseph, Summers, Angela C., Symons, Jordan M., Zein, Wadih M., Boltshauser, Eugen, Sayer, John A., Gunay-Aygun, Meral, Valente, Enza Maria, Doherty, Dan
Publicado en Am J Med Genet A (2019)

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

por Franken, Gijs A. C., Müller, Dominik, Mignot, Cyril, Keren, Boris, Lévy, Jonathan, Tabet, Anne‐Claude, Germanaud, David, Tejada, María‐Isabel, Kroes, Hester Y., Nievelstein, Rutger A. J., Brimble, Elise, Ruzhnikov, Maria, Claverie‐Martin, Felix, Szczepańska, Maria, Ćuk, Martin, Latta, Femke, Konrad, Martin, Martínez‐Cruz, Luis A., Bindels, René J. M., Hoenderop, Joost G. J., Schlingmann, Karl‐Peter, de Baaij, Jeroen H. F.
Publicado en Hum Mutat (2021)

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

por Slaats, Gisela G., Isabella, Christine R., Kroes, Hester Y., Dempsey, Jennifer C., Gremmels, Hendrik, Monroe, Glen R., Phelps, Ian G., Duran, Karen J., Adkins, Jonathan, Kumar, Sairam A., Knutzen, Dana M., Knoers, Nine V., Mendelsohn, Nancy J., Neubauer, David, Mastroyianni, Sotiria D., Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A., Parisi, Melissa A., Otto, Edgar A., Johnson, Colin A., Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H., Doherty, Dan
Publicado en J Med Genet (2015)

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

por Haer-Wigman, Lonneke, van Zelst-Stams, Wendy AG, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline CW, Verheij, Joke BGM, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel JF, Kievit, Anneke J, Verhoeven, Virginie JM, Pott, Jan WR, Sallevelt, Suzanne CEH, 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 PM, Hoefsloot, Lies, Yntema, Helger G
Publicado en Eur J Hum Genet (2017)

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

por Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C. A. J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J. A., van Gassen, Koen L., van Rooij, Iris A. L. M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M. H. F., Renkema, Kirsten Y., Knoers, Nine V. A. M., van Reeuwijk, Jeroen, Lilien, Marc R.
Publicado en Pediatr Nephrol (2018)

Mutations in the Human Laminin β2 (LAMB2) Gene and the Associated Phenotypic Spectrum

por Matejas, Verena, Hinkes, Bernward, Alkandari, Faisal, Al-Gazali, Lihadh, Annexstad, Ellen, Aytac, Mehmet B., Barrow, Margaret, Bláhová, Kvĕta, Bockenhauer, Detlef, Cheong, Hae Il, Maruniak-Chudek, Iwona, Cochat, Pierre, Dötsch, Jörg, Gajjar, Priya, Hennekam, Raoul C., Janssen, Françoise, Kagan, Mikhail, Kariminejad, Ariana, Kemper, Markus J., Koenig, Jens, Kogan, Jillene, Kroes, Hester Y., Kuwertz-Bröking, Eberhard, Lewanda, Amy F., Medeira, Ana, Muscheites, Jutta, Niaudet, Patrick, Pierson, Michel, Saggar, Anand, Seaver, Laurie, Suri, Mohnish, Tsygin, Alexey, Wühl, Elke, Zurowska, Aleksandra, Uebe, Steffen, Hildebrandt, Friedhelm, Antignac, Corinne, Zenker, Martin
Publicado 2010

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

por Snijders Blok, Lot, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M.A., van Gassen, Koen L.I., Firth, Helen V., Tomkins, Susan, Bodek, Simon, Õunap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoë, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., Fisher, Simon E.
Publicado en Am J Hum Genet (2019)

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

por Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen
Publicado en Eur J Hum Genet (2018)

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

por O’Donnell-Luria, Anne H., Pais, Lynn S., Faundes, Víctor, Wood, Jordan C., Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A., Bianchini, Claudia, Bird, Lynne M., Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Demurger, Florence, Dowling, James J., Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F., Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Heide, Solveig, Helbig, Katherine L., Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R., Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y., Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M., Maegawa, Gustavo H.B., Marcelis, Carlo L.M., Mark, Paul R., Masruha, Marcelo R., McLaughlin, Heather M., McWalter, Kirsty, Melchinger, Esther U., Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza L.P., Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A., van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G., Wentzensen, Ingrid M., Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H.
Publicado en Am J Hum Genet (2019)