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Cohesin complex-associated holoprosencephaly.
Published in:
2019
By:
- Kruszka, Paul;
- Berger, Seth I;
- Casa, Valentina;
- Dekker, Mike R;
- Gaesser, Jenna;
- Weiss, Karin;
- Martinez, Ariel F;
- Murdock, David R;
- Louie, Raymond J;
- Prijoles, Eloise J;
- Lichty, Angie W;
- Brouwer, Oebele F;
- Zonneveld-Huijssoon, Evelien;
- Stephan, Mark J;
- Hogue, Jacob;
- Hu, Ping;
- Tanima-Nagai, Momoko;
- Everson, Joshua L;
- Prasad, Chitra;
- Cereda, Anna
Publication type:
journal article
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Published in:
Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.780134
By:
- Elsink, Kim;
- Huibers, Manon M. H.;
- Hollink, Iris H. I. M.;
- Simons, Annet;
- Zonneveld-Huijssoon, Evelien;
- van der Veken, Lars T.;
- Leavis, Helen L.;
- Henriet, Stefanie S. V.;
- van Deuren, Marcel;
- van de Veerdonk, Frank L.;
- Potjewijd, Judith;
- Berghuis, Dagmar;
- Dalm, Virgil A. S. H.;
- Vermont, Clementien L.;
- van de Ven, Annick A. J. M.;
- Lambeck, Annechien J. A.;
- Abbott, Kristin M.;
- van Hagen, P. Martin;
- de Bree, Godelieve J.;
- Kuijpers, Taco W.
Publication type:
Article
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10649-4
By:
- Deelen, Patrick;
- van Dam, Sipko;
- Herkert, Johanna C.;
- Karjalainen, Juha M.;
- Brugge, Harm;
- Abbott, Kristin M.;
- van Diemen, Cleo C.;
- van der Zwaag, Paul A.;
- Gerkes, Erica H.;
- Zonneveld-Huijssoon, Evelien;
- Boer-Bergsma, Jelkje J.;
- Folkertsma, Pytrik;
- Gillett, Tessa;
- van der Velde, K. Joeri;
- Kanninga, Roan;
- van den Akker, Peter C.;
- Jan, Sabrina Z.;
- Hoorntje, Edgar T.;
- te Rijdt, Wouter P.;
- Vos, Yvonne J.
Publication type:
Article
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Published in:
Epilepsia Open, 2023, v. 8, n. 4, p. 1300, doi. 10.1002/epi4.12799
By:
- Buijsse, Nathan;
- Jansen, Floor E.;
- Ockeloen, Charlotte W.;
- van Kempen, Marjan J. A.;
- Zeidler, Shimriet;
- Willemsen, Marjolein H.;
- Scarano, Emanuela;
- Monticone, Sonia;
- Zonneveld‐Huijssoon, Evelien;
- Low, Karen J.;
- Bayat, Allan;
- Sisodiya, Sanjay M.;
- Samanta, Debopam;
- Lesca, Gaetan;
- de Jong, Danielle;
- Giltay, Jaqcues C.;
- Verbeek, Nienke E.;
- Kleefstra, Tjitske;
- Brilstra, Eva H.;
- Vlaskamp, Danique R. M.
Publication type:
Article
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 3051, doi. 10.1172/JCI79860
By:
- Houge, Gunnar;
- Haesen, Dorien;
- Vissers, Lisenka E. L. M.;
- Mehta, Sarju;
- Parker, Michael J.;
- Wright, Michael;
- Vogt, Julie;
- McKee, Shane;
- Tolmie, John L.;
- Cordeiro, Nuno;
- Kleefstra, Tjitske;
- Willemsen, Marjolein H.;
- Reijnders, Margot R. F.;
- Berland, Siren;
- Hayman, Eli;
- Lahat, Eli;
- Brilstra, Eva H.;
- van Gassen, Koen L. I.;
- Zonneveld-Huijssoon, Evelien;
- de Bie, Charlotte I.
Publication type:
Article
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Published in:
eLife, 2022, p. 1, doi. 10.7554/eLife.78469
By:
- Hebert, Anne;
- Simons, Annet;
- Schuurs-Hoeijmakers, Janneke H. M.;
- Koenen, Hans J. P. M.;
- Zonneveld-Huijssoon, Evelien;
- Henriet, Stefanie S. V.;
- Schatorjé, Ellen J. H.;
- Hoppenreijs, Esther P. A. H.;
- Leenders, Erika K. S. M.;
- Janssen, Etienne J. M.;
- Santen, Gijs W. E.;
- de Munnik, Sonja A.;
- van Reijmersdal, Simon V.;
- van Rijssen, Esther;
- Kersten, Simone;
- Netea, Mihai G.;
- Smeets, Ruben L.;
- van de Veerdonk, Frank L.;
- Hoischen, Alexander;
- van der Made, Caspar I.
Publication type:
Article
Brief Report: Autologous Stem Cell Transplantation Restores Immune Tolerance in Experimental Arthritis by Renewal and Modulation of the Teff Cell Compartment.
Published in:
Arthritis & Rheumatology, 2014, v. 66, n. 2, p. 350, doi. 10.1002/art.38261
By:
- Delemarre, Eveline M.;
- Roord, Sarah T. A.;
- Broek, Theo;
- Zonneveld‐Huijssoon, Evelien;
- Jager, Wilco;
- Rozemuller, Henk;
- Martens, Anton C.;
- Broere, Femke;
- Wulffraat, Nico M.;
- Glant, Tibor T.;
- Prakken, Berent J.;
- Wijk, Femke
Publication type:
Article
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Published in:
Nucleic Acids Research, 2020, v. 48, n. 2, p. 770, doi. 10.1093/nar/gkz1042
By:
- Lezzerini, Marco;
- Penzo, Marianna;
- O'Donohue, Marie-Françoise;
- Marques dos Santos Vieira, Carolina;
- Saby, Manon;
- Elfrink, Hyung L;
- Diets, Illja J;
- Hesse, Anne-Marie;
- Couté, Yohann;
- Gastou, Marc;
- Nin-Velez, Alexandra;
- Nikkels, Peter G J;
- Olson, Alexandra N;
- Zonneveld-Huijssoon, Evelien;
- Jongmans, Marjolijn C J;
- Zhang, GuangJun;
- van Weeghel, Michel;
- Houtkooper, Riekelt H;
- Wlodarski, Marcin W;
- Kuiper, Roland P
Publication type:
Article
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
Published in:
Neurogenetics, 2021, v. 22, n. 1, p. 87, doi. 10.1007/s10048-020-00622-5
By:
- Scala, Marcello;
- Zonneveld-Huijssoon, Evelien;
- Brienza, Marianna;
- Mecarelli, Oriano;
- van der Hout, Annemarie H.;
- Zambrelli, Elena;
- Turner, Katherine;
- Zara, Federico;
- Peron, Angela;
- Vignoli, Aglaia;
- Striano, Pasquale
Publication type:
Article
Germline AGO2 mutations impair RNA interference and human neurological development.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19572-5
By:
- Lessel, Davor;
- Zeitler, Daniela M.;
- Reijnders, Margot R. F.;
- Kazantsev, Andriy;
- Hassani Nia, Fatemeh;
- Bartholomäus, Alexander;
- Martens, Victoria;
- Bruckmann, Astrid;
- Graus, Veronika;
- McConkie-Rosell, Allyn;
- McDonald, Marie;
- Lozic, Bernarda;
- Tan, Ee-Shien;
- Gerkes, Erica;
- Johannsen, Jessika;
- Denecke, Jonas;
- Telegrafi, Aida;
- Zonneveld-Huijssoon, Evelien;
- Lemmink, Henny H.;
- Cham, Breana W. M.
Publication type:
Article

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