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

por Verhoeven, Willem MA, Egger, Jos IM, Knegt, Alida C, Zuydam, José, Kleefstra, Tjitske
Publicado 2016

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

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

SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders

por Wang, Shan, Bleeck, Anna, Nadif Kasri, Nael, Kleefstra, Tjitske, van Rhijn, Jon-Ruben, Schubert, Dirk
Publicado 2021

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

por Verhoeven, Willem, Egger, Jos, Kipp, Janneke, Verheul‐ aan de Wiel, Jiska, Ockeloen, Charlotte, Kleefstra, Tjitske, Pfundt, Rolph
Publicado 2019

Editorial: Treatment of psychopathological and neurocognitive disorders in genetic syndromes: In need of multidisciplinary phenotyping and treatment design

por Egger, Jos, Egger, Charlotte, Woodcock, Kate, De Witte, Lotje, Van Den Bree, Marianne, Van Dongen, Linde, Wingbermühle, Ellen, Kleefstra, Tjitske
Publicado 2022

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

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

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

por van Dongen, Linde C. M., Wingbermühle, Ellen, Oomens, Wouter, Bos-Roubos, Anja G., Ockeloen, Charlotte W., Kleefstra, Tjitske, Egger, Jos I. M.
Publicado 2017

Speech‐language profiles in the context of cognitive and adaptive functioning in SATB2‐associated syndrome

por Snijders Blok, Lot, Goosen, Y. Max, van Haaften, Leenke, van Hulst, Karen, Fisher, Simon E., Brunner, Han G., Egger, Jos I. M., Kleefstra, Tjitske
Publicado 2021

Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants

por Wingbermühle, Ellen, Roelofs, Renée L., Oomens, Wouter, Kramer, Jennifer, Draaisma, Jos M. T., Leenders, Erika, Kleefstra, Tjitske, Kessels, Roy P. C., Egger, Jos I. M.
Publicado 2022

Behavior and cognitive functioning in Witteveen–Kolk syndrome

por 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.
Publicado 2020

The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA

por Coutelle, Romain, Boedec, Morgane, Vermeulen, Karlijn, Kummeling, Joost, Koolen, David A., Kleefstra, Tjitske, Fournier, Camille, Colin, Florent, Strehle, Axelle, Geneviève, David, Burger, Pauline, Mandel, Jean-Louis
Publicado 2022

Exploring the behavioral and cognitive phenotype of KBG syndrome

por 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.
Publicado 2019

Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders

por Geertjens, Lisa, van Voorst, Torben W., Bouman, Arianne, van Boven, Maaike A., Kleefstra, Tjitske, Verhage, Matthijs, Linkenkaer-Hansen, Klaus, Nadif Kasri, Nael, Cornelisse, L. Niels, Bruining, Hilgo
Publicado 2022

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

por 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
Publicado 2019

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

por 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
Publicado 2018

GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

por Burger, Pauline, Colin, Florent, Strehle, Axelle, Mazzucotelli, Timothée, Collot, Nicole, Coutelle, Romain, Durand, Benjamin, Bouman, Arianne, Landau Prat, Daphna, Kleefstra, Tjitske, Parrend, Pierre, Piton, Amélie, Koolen, David A., Mandel, Jean-Louis
Publicado 2022

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

por 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
Publicado 2018

Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro

por Mossink, Britt, Verboven, Anouk H.A., van Hugte, Eline J.H., Klein Gunnewiek, Teun M., Parodi, Giulia, Linda, Katrin, Schoenmaker, Chantal, Kleefstra, Tjitske, Kozicz, Tamas, van Bokhoven, Hans, Schubert, Dirk, Nadif Kasri, Nael, Frega, Monica
Publicado 2021

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

por Zieba, Jennifer, Zhang, Wenjuan, Chong, Jessica X., Forlenza, Kimberly N., Martin, Jorge H., Heard, Kelly, Grange, Dorothy K., Butler, Merlin G., Kleefstra, Tjitske, Lachman, Ralph S., Nickerson, Deborah, Regnier, Michael, Cohn, Daniel H., Bamshad, Michael, Krakow, Deborah
Publicado 2017

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disa...

por Dudding-Byth, Tracy, Baxter, Anne, Holliday, Elizabeth G., Hackett, Anna, O’Donnell, Sheridan, White, Susan M., Attia, John, Brunner, Han, de Vries, Bert, Koolen, David, Kleefstra, Tjitske, Ratwatte, Seshika, Riveros, Carlos, Brain, Steve, Lovell, Brian C.
Publicado 2017