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

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

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

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

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

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

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

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

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

অনুযায়ী Bouman, Arianne, Geelen, Joyce M., Kummeling, Joost, Schenck, Annette, van der Zwan, Yvonne G., Klein, Willemijn M., Kleefstra, Tjitske
প্রকাশিত 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...

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

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

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

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

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

Behavior and cognitive functioning in Witteveen–Kolk syndrome

অনুযায়ী 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.
প্রকাশিত Am J Med Genet A (2020)

Exploring the behavioral and cognitive phenotype of KBG syndrome

অনুযায়ী 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.
প্রকাশিত Genes Brain Behav (2019)

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

অনুযায়ী 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
প্রকাশিত PLoS Biol (2019)

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

অনুযায়ী 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.
প্রকাশিত 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

অনুযায়ী 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
প্রকাশিত 2011

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

অনুযায়ী 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
প্রকাশিত Am J Hum Genet (2016)

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

অনুযায়ী 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
প্রকাশিত Mol Autism (2018)

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

অনুযায়ী 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.
প্রকাশিত 2004

Variability in dentofacial phenotypes in four families with WNT10A mutations

অনুযায়ী 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
প্রকাশিত 2014

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

অনুযায়ী 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
প্রকাশিত 2013

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

অনুযায়ী 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
প্রকাশিত 2010

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

অনুযায়ী 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
প্রকাশিত Nucleic Acids Res (2018)