Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2

gan Verhoeven, Willem MA, Egger, Jos IM, Knegt, Alida C, Zuydam, José, Kleefstra, Tjitske
Cyhoeddwyd yn Neuropsychiatr Dis Treat (2016)

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

gan Verhoeven, Willem MA, Egger, Jos IM, Willemsen, Marjolein H, de Leijer, Gert JM, Kleefstra, Tjitske
Cyhoeddwyd 2012

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

gan Verhoeven, Willem, Egger, Jos, Kipp, Janneke, Verheul‐ aan de Wiel, Jiska, Ockeloen, Charlotte, Kleefstra, Tjitske, Pfundt, Rolph
Cyhoeddwyd yn Mol Genet Genomic Med (2019)

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis

gan AGHA, ZEHRA, IQBAL, ZAFAR, KLEEFSTRA, TJITSKE, ZWEIER, CHRISTIANE, PFUNDT, ROLPH, QAMAR, RAHEEL, VAN BOKHOVEN, HANS, WILLEMSEN, MARJOLEIN H.
Cyhoeddwyd yn Genet Res (Camb) (2015)

Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies

gan Bouman, Arianne, Geelen, Joyce M., Kummeling, Joost, Schenck, Annette, van der Zwan, Yvonne G., Klein, Willemijn M., Kleefstra, Tjitske
Cyhoeddwyd yn Am J Med Genet A (2024)

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcript...

gan Shoubridge, Cheryl, Tan, May Huey, Fullston, Tod, Cloosterman, Desiree, Coman, David, McGillivray, George, Mancini, Grazia M, Kleefstra, Tjitske, Gécz, Jozef
Cyhoeddwyd 2010

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

gan Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde
Cyhoeddwyd 2012

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

gan van Dongen, Linde C. M., Wingbermühle, Ellen, Oomens, Wouter, Bos-Roubos, Anja G., Ockeloen, Charlotte W., Kleefstra, Tjitske, Egger, Jos I. M.
Cyhoeddwyd yn Front Behav Neurosci (2017)

Behavior and cognitive functioning in Witteveen–Kolk syndrome

gan van Dongen, Linde C. M., Wingbermühle, Ellen, Dingemans, Alexander J. M., Bos‐Roubos, Anja G., Vermeulen, Karlijn, Pop‐Purceleanu, Monica, Kleefstra, Tjitske, Egger, Jos I. M.
Cyhoeddwyd yn Am J Med Genet A (2020)

Exploring the behavioral and cognitive phenotype of KBG syndrome

gan van Dongen, Linde C.M., Wingbermühle, Ellen, van der Veld, William M., Vermeulen, Karlijn, Bos‐Roubos, Anja G., Ockeloen, Charlotte W., Kleefstra, Tjitske, Egger, Jos I.M.
Cyhoeddwyd yn Genes Brain Behav (2019)

The histone methyltransferase G9a regulates tolerance to oxidative stress–induced energy consumption

gan Riahi, Human, Brekelmans, Carlijn, Foriel, Sarah, Merkling, Sarah H., Lyons, Taylor A., Itskov, Pavel M., Kleefstra, Tjitske, Ribeiro, Carlos, van Rij, Ronald P., Kramer, Jamie M., Schenck, Annette
Cyhoeddwyd yn PLoS Biol (2019)

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

gan Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.
Cyhoeddwyd yn Am J Hum Genet (2019)

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

gan Betsalel, Ofir T, Rosenberg, Efraim H, Almeida, Ligia S, Kleefstra, Tjitske, Schwartz, Charles E, Valayannopoulos, Vassili, Abdul-Rahman, Omar, Poplawski, Nicola, Vilarinho, Laura, Wolf, Philipp, den Dunnen, Johan T, Jakobs, Cornelis, Salomons, Gajja S
Cyhoeddwyd 2011

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

gan Kochinke, Korinna, Zweier, Christiane, Nijhof, Bonnie, Fenckova, Michaela, Cizek, Pavel, Honti, Frank, Keerthikumar, Shivakumar, Oortveld, Merel A.W., Kleefstra, Tjitske, Kramer, Jamie M., Webber, Caleb, Huynen, Martijn A., Schenck, Annette
Cyhoeddwyd yn Am J Hum Genet (2016)

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

gan de Boer, Anneke, Vermeulen, Karlijn, Egger, Jos I. M., Janzing, Joost G. E., de Leeuw, Nicole, Veenstra-Knol, Hermine E., den Hollander, Nicolette S., van Bokhoven, Hans, Staal, Wouter, Kleefstra, Tjitske
Cyhoeddwyd yn Mol Autism (2018)

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

gan Rosenberg, Efraim H., Almeida, Ligia S., Kleefstra, Tjitske, deGrauw, Rose S., Yntema, Helger G., Bahi, Nadia, Moraine, Claude, Ropers, Hans-Hilger, Fryns, Jean-Pierre, deGrauw, Ton J., Jakobs, Cornelis, Salomons, Gajja S.
Cyhoeddwyd 2004

Variability in dentofacial phenotypes in four families with WNT10A mutations

gan Vink, Christian P, Ockeloen, Charlotte W, ten Kate, Sietske, Koolen, David A, Ploos van Amstel, Johannes Kristian, Kuijpers-Jagtman, Anne-Marie, van Heumen, Celeste C, Kleefstra, Tjitske, Carels, Carine E L
Cyhoeddwyd 2014

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

gan Goubau, Christophe, Devriendt, Koen, Van der Aa, Nathalie, Crepel, An, Wieczorek, Dagmar, Kleefstra, Tjitske, Willemsen, Marjolein H, Rauch, Anita, Tzschach, Andreas, de Ravel, Thomy, Leemans, Peter, Van Geet, Chris, Buyse, Gunnar, Freson, Kathleen
Cyhoeddwyd 2013

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

gan Willemsen, Marjolein H, Fernandez, Bridget A, Bacino, Carlos A, Gerkes, Erica, de Brouwer, Arjan PM, Pfundt, Rolph, Sikkema-Raddatz, Birgit, Scherer, Stephen W, Marshall, Christian R, Potocki, Lorraine, van Bokhoven, Hans, Kleefstra, Tjitske
Cyhoeddwyd 2010

Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome

gan Iacono, Giovanni, Dubos, Aline, Méziane, Hamid, Benevento, Marco, Habibi, Ehsan, Mandoli, Amit, Riet, Fabrice, Selloum, Mohammed, Feil, Robert, Zhou, Huiqing, Kleefstra, Tjitske, Kasri, Nael Nadif, van Bokhoven, Hans, Herault, Yann, Stunnenberg, Hendrik G
Cyhoeddwyd yn Nucleic Acids Res (2018)