| Year |
Citation |
Score |
| 2024 |
van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, Trajkova S, Huisman SA, Bijlsma EK, Kleefstra T, van Bon BW, Baysal Ö, Zweier C, Palomares-Bralo M, et al. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants. Hgg Advances. 100289. PMID 38571311 DOI: 10.1016/j.xhgg.2024.100289 |
0.33 |
|
| 2024 |
Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, Marcelis C, Willemsen MH, van Hagen JM, Zwijnenburg P, Alders M, Õunap K, Reimand T, Fjodorova O, Berland S, ... ... Kleefstra T, et al. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile. Clinical Genetics. PMID 38384171 DOI: 10.1111/cge.14498 |
0.386 |
|
| 2024 |
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Samuel G, Ramond F, Fluss J, ... ... Kleefstra T, et al. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European Journal of Human Genetics : Ejhg. PMID 38355961 DOI: 10.1038/s41431-024-01560-8 |
0.312 |
|
| 2023 |
Ng R, Harris J, Kleefstra T, Morgan AT, Simpson B. Editorial: Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery. Frontiers in Genetics. 14: 1338078. PMID 38116293 DOI: 10.3389/fgene.2023.1338078 |
0.301 |
|
| 2023 |
Dingemans AJM, Hinne M, Truijen KMG, Goltstein L, van Reeuwijk J, de Leeuw N, Schuurs-Hoeijmakers J, Pfundt R, Diets IJ, den Hoed J, de Boer E, Coenen-van der Spek J, Jansen S, van Bon BW, Jonis N, ... ... Kleefstra T, et al. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature Genetics. PMID 37550531 DOI: 10.1038/s41588-023-01469-w |
0.318 |
|
| 2023 |
de Boer E, Marcelis C, Neveling K, van Beusekom E, Hoischen A, Klein WM, de Leeuw N, Mantere T, Melo US, van Reeuwijk J, Smeets D, Spielmann M, Kleefstra T, van Bokhoven H, Vissers LELM. A complex structural variant near causes X-linked split-hand/foot malformation. Hgg Advances. 4: 100200. PMID 37216008 DOI: 10.1016/j.xhgg.2023.100200 |
0.314 |
|
| 2023 |
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, ... ... Kleefstra T, et al. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American Journal of Human Genetics. PMID 37196654 DOI: 10.1016/j.ajhg.2023.04.008 |
0.369 |
|
| 2023 |
Rossi A, Blok LS, Neuser S, Klöckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, ... ... Kleefstra T, et al. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clinical Genetics. PMID 37165752 DOI: 10.1111/cge.14353 |
0.37 |
|
| 2022 |
Burger P, Colin F, Strehle A, Mazzucotelli T, Collot N, Coutelle R, Durand B, Bouman A, Landau Prat D, Kleefstra T, Parrend P, Piton A, Koolen DA, Mandel JL. GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders. Journal of Neural Transmission (Vienna, Austria : 1996). 1-13. PMID 36436153 DOI: 10.1007/s00702-022-02569-3 |
0.347 |
|
| 2022 |
Levy T, Siper PM, Lerman B, Halpern D, Zweifach J, Belani P, Thurm A, Kleefstra T, Berry-Kravis E, Buxbaum JD, Grice DE. DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care. Pediatric Neurology. 138: 87-94. PMID 36434914 DOI: 10.1016/j.pediatrneurol.2022.10.009 |
0.373 |
|
| 2022 |
Coenen-van der Spek J, Relator R, Kerkhof J, McConkey H, Levy MA, Tedder ML, Louie RJ, Fletcher RS, Moore HW, Childers A, Farrelly ER, Champaigne NL, Lyons MJ, Everman DB, Rogers RC, ... ... Kleefstra T, et al. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 36399132 DOI: 10.1016/j.gim.2022.10.004 |
0.348 |
|
| 2022 |
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, ... ... Kleefstra T, et al. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. American Journal of Medical Genetics. Part A. PMID 36271811 DOI: 10.1002/ajmg.a.63004 |
0.36 |
|
| 2022 |
Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, et al. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8. Translational Psychiatry. 12: 421. PMID 36182950 DOI: 10.1038/s41398-022-02189-1 |
0.429 |
|
| 2022 |
Egger J, Egger C, Woodcock K, De Witte L, Van Den Bree M, Van Dongen L, Wingbermühle E, Kleefstra T. Editorial: Treatment of psychopathological and neurocognitive disorders in genetic syndromes: In need of multidisciplinary phenotyping and treatment design. Frontiers in Psychiatry. 13: 1009376. PMID 36117652 DOI: 10.3389/fpsyt.2022.1009376 |
0.767 |
|
| 2022 |
Wingbermühle E, Roelofs RL, Oomens W, Kramer J, Draaisma JMT, Leenders E, Kleefstra T, Kessels RPC, Egger JIM. Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants. Journal of Clinical Medicine. 11. PMID 36012976 DOI: 10.3390/jcm11164735 |
0.763 |
|
| 2022 |
Coutelle R, Boedec M, Vermeulen K, Kummeling J, Koolen DA, Kleefstra T, Fournier C, Colin F, Strehle A, Geneviève D, Burger P, Mandel JL. The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA. Bmc Psychiatry. 22: 572. PMID 36008773 DOI: 10.1186/s12888-022-04213-6 |
0.775 |
|
| 2022 |
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, ... ... Kleefstra T, et al. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35833929 DOI: 10.1016/j.gim.2022.06.007 |
0.37 |
|
| 2022 |
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, ... ... Kleefstra T, et al. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35346573 DOI: 10.1016/j.gim.2022.02.014 |
0.342 |
|
| 2022 |
Geertjens L, van Voorst TW, Bouman A, van Boven MA, Kleefstra T, Verhage M, Linkenkaer-Hansen K, Nadif Kasri N, Cornelisse LN, Bruining H. Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders. Genes. 13. PMID 35205434 DOI: 10.3390/genes13020390 |
0.312 |
|
| 2022 |
Melland H, Bumbak F, Kolesnik-Taylor A, Ng-Cordell E, John A, Constantinou P, Joss S, Larsen M, Fagerberg C, Laulund LW, Thies J, Emslie F, Willemsen M, Kleefstra T, Pfundt R, et al. Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35101335 DOI: 10.1016/j.gim.2021.12.002 |
0.33 |
|
| 2021 |
Wang S, Bleeck A, Nadif Kasri N, Kleefstra T, van Rhijn JR, Schubert D. SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders. Frontiers in Molecular Neuroscience. 14: 772000. PMID 34803610 DOI: 10.3389/fnmol.2021.772000 |
0.306 |
|
| 2021 |
Dias C, Pfundt R, Kleefstra T, Shuurs-Hoeijmakers J, Boon EMJ, van Hagen JM, Zwijnenburg P, Weiss MM, Keren B, Mignot C, Isapof A, Weiss K, Hershkovitz T, Iascone M, Maitz S, et al. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. American Journal of Medical Genetics. Part A. PMID 34003604 DOI: 10.1002/ajmg.a.62254 |
0.384 |
|
| 2021 |
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, ... ... Kleefstra T, et al. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. American Journal of Human Genetics. PMID 33909992 DOI: 10.1016/j.ajhg.2021.04.007 |
0.379 |
|
| 2021 |
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, ... ... Kleefstra T, et al. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. American Journal of Human Genetics. PMID 33909990 DOI: 10.1016/j.ajhg.2021.04.008 |
0.341 |
|
| 2021 |
Jansen NA, Braden RO, Srivastava S, Otness EF, Lesca G, Rossi M, Nizon M, Bernier RA, Quelin C, van Haeringen A, Kleefstra T, Wong MMK, Whalen S, Fisher SE, Morgan AT, et al. Clinical delineation of SETBP1 haploinsufficiency disorder. European Journal of Human Genetics : Ejhg. PMID 33867525 DOI: 10.1038/s41431-021-00888-9 |
0.373 |
|
| 2021 |
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, ... ... Kleefstra T, et al. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. American Journal of Human Genetics. PMID 33513338 DOI: 10.1016/j.ajhg.2021.01.007 |
0.327 |
|
| 2021 |
Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, ... ... Kleefstra T, et al. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics : Ejhg. PMID 33437032 DOI: 10.1038/s41431-020-00769-7 |
0.421 |
|
| 2020 |
Jolly LA, Parnell E, Gardner AE, Corbett MA, Pérez-Jurado LA, Shaw M, Lesca G, Keegan C, Schneider MC, Griffin E, Maier F, Kiss C, Guerin A, Crosby K, Rosenbaum K, ... ... Kleefstra T, et al. Missense variant contribution to USP9X-female syndrome. Npj Genomic Medicine. 5: 53. PMID 33298948 DOI: 10.1038/s41525-020-00162-9 |
0.309 |
|
| 2020 |
Snijders Blok L, Vino A, den Hoed J, Underhill HR, Monteil D, Li H, Reynoso Santos FJ, Chung WK, Amaral MD, Schnur RE, Santiago-Sim T, Si Y, Brunner HG, Kleefstra T, Fisher SE. Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33110267 DOI: 10.1038/s41436-020-01016-6 |
0.326 |
|
| 2020 |
van Dongen LCM, Wingbermühle E, Dingemans AJM, Bos-Roubos AG, Vermeulen K, Pop-Purceleanu M, Kleefstra T, Egger JIM. Behavior and cognitive functioning in Witteveen-Kolk syndrome. American Journal of Medical Genetics. Part A. 182: 2384-2390. PMID 32783353 DOI: 10.1002/Ajmg.A.61775 |
0.792 |
|
| 2020 |
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, ... ... Kleefstra T, et al. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. American Journal of Human Genetics. PMID 32553196 DOI: 10.1016/J.Ajhg.2020.05.017 |
0.388 |
|
| 2020 |
Kummeling J, Stremmelaar DE, Raun N, Reijnders MRF, Willemsen MH, Ruiterkamp-Versteeg M, Schepens M, Man CCO, Gilissen C, Cho MT, McWalter K, Sinnema M, Wheless JW, Simon MEH, Genetti CA, ... ... Kleefstra T, et al. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Molecular Psychiatry. PMID 32346159 DOI: 10.1038/S41380-020-0725-5 |
0.456 |
|
| 2020 |
Carvill GL, Helbig KL, Myers CT, Scala M, Huether R, Lewis S, Kruer TN, Guida BS, Bakhtiari S, Sebe J, Tang S, Stickney H, Oktay SU, Bhandiwad AA, Ramsey K, ... ... Kleefstra T, et al. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. Human Mutation. PMID 32196822 DOI: 10.1002/Humu.24015 |
0.378 |
|
| 2020 |
Aref-Eshghi E, Kerkhof J, Pedro VP, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, ... ... Kleefstra T, et al. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. American Journal of Human Genetics. PMID 32109418 DOI: 10.1016/J.Ajhg.2020.01.019 |
0.423 |
|
| 2020 |
Frega M, Selten M, Mossink B, Keller JM, Linda K, Moerschen R, Qu J, Koerner P, Jansen S, Oudakker A, Kleefstra T, van Bokhoven H, Zhou H, Schubert D, Nadif Kasri N. Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype. Cell Reports. 30: 173-186.e6. PMID 31914384 DOI: 10.1016/J.Celrep.2019.12.002 |
0.386 |
|
| 2019 |
Frega M, Linda K, Keller JM, Gümüş-Akay G, Mossink B, van Rhijn JR, Negwer M, Klein Gunnewiek T, Foreman K, Kompier N, Schoenmaker C, van den Akker W, van der Werf I, Oudakker A, Zhou H, ... Kleefstra T, et al. Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling. Nature Communications. 10: 4928. PMID 31666522 DOI: 10.1038/S41467-019-12947-3 |
0.301 |
|
| 2019 |
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, ... ... Kleefstra T, et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications. 10: 4679. PMID 31616000 DOI: 10.1038/S41467-019-12435-8 |
0.488 |
|
| 2019 |
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, ... ... Kleefstra T, et al. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Biological Psychiatry. PMID 31443933 DOI: 10.1016/J.Biopsych.2019.05.028 |
0.435 |
|
| 2019 |
Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, ... ... Kleefstra T, et al. Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Frontiers in Genetics. 10: 611. PMID 31417602 DOI: 10.3389/Fgene.2019.00611 |
0.311 |
|
| 2019 |
Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. American Journal of Human Genetics. 105: 395-402. PMID 31353022 DOI: 10.1016/J.Ajhg.2019.06.009 |
0.396 |
|
| 2019 |
Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, et al. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 31303265 DOI: 10.1016/J.Ajhg.2019.06.007 |
0.445 |
|
| 2019 |
Verhoeven W, Egger J, Kipp J, Wiel JVad, Ockeloen C, Kleefstra T, Pfundt R. A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia? Molecular Genetics & Genomic Medicine. 7. PMID 31290275 DOI: 10.1002/Mgg3.849 |
0.711 |
|
| 2019 |
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, ... ... Kleefstra T, et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. American Journal of Human Genetics. PMID 30982611 DOI: 10.1016/J.Ajhg.2019.02.026 |
0.476 |
|
| 2019 |
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, ... ... Kleefstra T, et al. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. American Journal of Human Genetics. PMID 30929739 DOI: 10.1016/J.Ajhg.2019.02.023 |
0.435 |
|
| 2019 |
van Dongen LCM, Wingbermühle E, van der Veld WM, Vermeulen K, Bos-Roubos AG, Ockeloen CW, Kleefstra T, Egger JIM. Exploring the behavioral and cognitive phenotype of KBG syndrome. Genes, Brain, and Behavior. 18: e12553. PMID 30786142 DOI: 10.1111/Gbb.12553 |
0.785 |
|
| 2019 |
Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Kleefstra T, et al. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 883. PMID 30770872 DOI: 10.1038/S41467-019-08800-2 |
0.328 |
|
| 2019 |
Dongen LCMv, Wingbermühle PAM, Veld WMvd, Stumpel CTRM, Kleefstra T, Egger JIM. Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome. Journal of Intellectual Disability Research. 63: 498-506. PMID 30724417 DOI: 10.1111/Jir.12597 |
0.382 |
|
| 2018 |
Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, et al. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. American Journal of Human Genetics. PMID 30580808 DOI: 10.1016/J.Ajhg.2018.11.007 |
0.499 |
|
| 2018 |
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Kleefstra T, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 9: 4619. PMID 30397230 DOI: 10.1038/S41467-018-06014-6 |
0.436 |
|
| 2018 |
Vegas N, Cavallin M, Kleefstra T, de Boer L, Philbert M, Maillard C, Boddaert N, Munnich A, Hubert L, Bery A, Besmond C, Bahi-Buisson N. Mutations in TBR1 gene leads to cortical malformations and intellectual disability. European Journal of Medical Genetics. PMID 30268909 DOI: 10.1016/J.Ejmg.2018.09.012 |
0.497 |
|
| 2018 |
Onori MP, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Küry S, Elgersma Y, van Woerden GM. The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. Human Mutation. PMID 30184290 DOI: 10.1002/Humu.23647 |
0.345 |
|
| 2018 |
Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, ... ... Kleefstra T, et al. The phenotypic spectrum of germline variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica. PMID 30026338 DOI: 10.3324/Haematol.2017.182659 |
0.383 |
|
| 2018 |
Diets IJ, Prescott T, Champaigne NL, Mancini GMS, Krossnes B, Frič R, Kocsis K, Jongmans MCJ, Kleefstra T. A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29907796 DOI: 10.1038/S41436-018-0079-4 |
0.456 |
|
| 2018 |
Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, ... Kleefstra T, et al. Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications. 9: 2064. PMID 29802345 DOI: 10.1038/S41467-018-04540-X |
0.374 |
|
| 2018 |
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, McLaughlin H, ... ... Kleefstra T, et al. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics. PMID 29740699 DOI: 10.1007/S00439-018-1887-Y |
0.459 |
|
| 2018 |
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A, Kvarnung M, Kleefstra T, et al. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. Biological Psychiatry. PMID 29724491 DOI: 10.1016/J.Biopsych.2018.02.1173 |
0.483 |
|
| 2018 |
Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, ... ... Kleefstra T, et al. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. American Journal of Human Genetics. PMID 29656860 DOI: 10.1016/J.Ajhg.2018.03.004 |
0.449 |
|
| 2018 |
Iacono G, Dubos A, Méziane H, Benevento M, Habibi E, Mandoli A, Riet F, Selloum M, Feil R, Zhou H, Kleefstra T, Kasri NN, van Bokhoven H, Herault Y, Stunnenberg HG. Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. Nucleic Acids Research. PMID 29554304 DOI: 10.1093/Nar/Gky196 |
0.399 |
|
| 2018 |
de Boer A, Vermeulen K, Egger JIM, Janzing JGE, de Leeuw N, Veenstra-Knol HE, den Hollander NS, van Bokhoven H, Staal W, Kleefstra T. EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction. Molecular Autism. 9: 5. PMID 29416845 DOI: 10.1186/S13229-018-0193-9 |
0.806 |
|
| 2018 |
van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, et al. De novo variants in CDK13 associated with syndromic ID/DD; molecular and clinical delineation of 15 individuals and a further review. Clinical Genetics. PMID 29393965 DOI: 10.1111/Cge.13225 |
0.427 |
|
| 2018 |
Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, ... ... Kleefstra T, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics. 102: 196. PMID 29304375 DOI: 10.1016/J.Ajhg.2017.12.016 |
0.43 |
|
| 2017 |
van Dongen LCM, Wingbermühle E, Oomens W, Bos-Roubos AG, Ockeloen CW, Kleefstra T, Egger JIM. Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study. Frontiers in Behavioral Neuroscience. 11: 248. PMID 29311865 DOI: 10.3389/Fnbeh.2017.00248 |
0.802 |
|
| 2017 |
Maroofian R, Riemersma M, Jae LT, Zhianabed N, Willemsen MH, Wissink-Lindhout WM, Willemsen MA, de Brouwer APM, Mehrjardi MYV, Ashrafi MR, Kusters B, Kleefstra T, Jamshidi Y, Nasseri M, Pfundt R, et al. B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome Medicine. 9: 118. PMID 29273094 DOI: 10.1186/S13073-017-0505-2 |
0.447 |
|
| 2017 |
Dudding-Byth T, Baxter A, Holliday EG, Hackett A, O'Donnell S, White SM, Attia J, Brunner H, de Vries B, Koolen D, Kleefstra T, Ratwatte S, Riveros C, Brain S, Lovell BC. Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability. Bmc Biotechnology. 17: 90. PMID 29258477 DOI: 10.1186/S12896-017-0410-1 |
0.41 |
|
| 2017 |
Powis Z, Petrik I, Cohen JS, Escolar D, Burton J, van Ravenswaaij-Arts CMA, Sival DA, Stegmann APA, Kleefstra T, Pfundt R, Chikarmane R, Begtrup A, Huether R, Tang S, Shinde DN. De Novo Variants in KLF7 are a Potential Novel Cause of Developmental Delay/Intellectual Disability, Neuromuscular and Psychiatric Symptoms. Clinical Genetics. PMID 29251763 DOI: 10.1111/Cge.13198 |
0.499 |
|
| 2017 |
Chiu ATG, Pei SLC, Mak CCY, Leung GKC, Yu MHC, Lee SL, Vreeburg M, Pfundt R, van der Burgt I, Kleefstra T, Frederic TM, Nambot S, Faivre L, Bruel AL, Rossi M, et al. Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Clinical Genetics. PMID 29240241 DOI: 10.1111/Cge.13196 |
0.443 |
|
| 2017 |
Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, ... ... Kleefstra T, et al. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. European Journal of Human Genetics : Ejhg. PMID 29209020 DOI: 10.1038/S41431-017-0039-5 |
0.492 |
|
| 2017 |
Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, ... ... Kleefstra T, et al. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. American Journal of Human Genetics. PMID 29106825 DOI: 10.1016/J.Ajhg.2017.09.015 |
0.372 |
|
| 2017 |
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, ... ... Kleefstra T, et al. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. American Journal of Human Genetics. 101: 768-788. PMID 29100089 DOI: 10.1016/J.Ajhg.2017.10.003 |
0.356 |
|
| 2017 |
Lessel D, Schob C, Küry S, Reinders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, ... ... Kleefstra T, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics. 101: 716-724. PMID 29100085 DOI: 10.1016/J.Ajhg.2017.09.014 |
0.423 |
|
| 2017 |
Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, et al. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. Plos Genetics. 13: e1006864. PMID 29069077 DOI: 10.1371/Journal.Pgen.1006864 |
0.495 |
|
| 2017 |
Reijnders MRF, Kousi M, van Woerden GM, Klein M, Bralten J, Mancini GMS, van Essen T, Proietti-Onori M, Smeets EEJ, van Gastel M, Stegmann APA, Stevens SJC, Lelieveld SH, Gilissen C, Pfundt R, ... ... Kleefstra T, et al. Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. Nature Communications. 8: 1052. PMID 29051493 DOI: 10.1038/S41467-017-00933-6 |
0.356 |
|
| 2017 |
Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, ... ... Kleefstra T, et al. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. American Journal of Human Genetics. 101: 139-148. PMID 28686853 DOI: 10.1016/J.Ajhg.2017.06.002 |
0.467 |
|
| 2017 |
Vermeulen K, Egger JIM, Janzing JGE, van Dongen L, van Bokhoven H, Kleefstra T, Staal WG. The Context of Symptom Measures: Interpretation and Clinical Diagnosis of Autism Spectrum Disorders in Intellectual Disabilities. Journal of the American Academy of Child and Adolescent Psychiatry. 56: 618-619. PMID 28647014 DOI: 10.1016/J.Jaac.2017.05.009 |
0.738 |
|
| 2017 |
Vermeulen K, Staal WG, Janzing JG, van Bokhoven H, Egger JIM, Kleefstra T. Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment. Clinical Neuropharmacology. 40: 185-188. PMID 28622207 DOI: 10.1097/Wnf.0000000000000226 |
0.768 |
|
| 2017 |
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, Patrick DF, ... ... Kleefstra T, et al. Phenotypes and genotypes in individuals with SMC1A variants. American Journal of Medical Genetics. Part A. PMID 28548707 DOI: 10.1002/Ajmg.A.38279 |
0.476 |
|
| 2017 |
Vermeulen K, de Boer A, Janzing JGE, Koolen DA, Ockeloen CW, Willemsen MH, Verhoef FM, van Deurzen PAM, van Dongen L, van Bokhoven H, Egger JIM, Staal WG, Kleefstra T. Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. American Journal of Medical Genetics. Part A. PMID 28498556 DOI: 10.1002/Ajmg.A.38280 |
0.777 |
|
| 2017 |
Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, ... ... Kleefstra T, et al. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Human Genetics. PMID 28393272 DOI: 10.1007/S00439-017-1795-6 |
0.394 |
|
| 2017 |
Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, et al. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. American Journal of Human Genetics. PMID 28343630 DOI: 10.1016/J.Ajhg.2017.02.005 |
0.477 |
|
| 2017 |
Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. Scientific Reports. 7: 41803. PMID 28205584 DOI: 10.1038/Srep41803 |
0.364 |
|
| 2017 |
Benevento M, Oomen CA, Horner AE, Amiri H, Jacobs T, Pauwels C, Frega M, Kleefstra T, Kopanitsa MV, Grant SG, Bussey TJ, Saksida LM, Van der Zee CE, van Bokhoven H, Glennon JC, et al. Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation. Scientific Reports. 7: 40284. PMID 28071689 DOI: 10.1038/Srep40284 |
0.33 |
|
| 2017 |
Verhoeven WMA, Egger JIM, Leeuw Nd, Kleefstra T. Kleefstra syndrome: Considerations about treatment strategy in 2 patients with a causative Ehmt1 mutation and apathy European Psychiatry. 41. DOI: 10.1016/J.Eurpsy.2017.01.933 |
0.515 |
|
| 2017 |
Egger J, Dongen LV, Stumpel C, Wingbermuehle E, Kleefstra T. KBG syndrome and the establishment of its neuropsychological phenotype European Psychiatry. 41. DOI: 10.1016/J.Eurpsy.2017.01.2026 |
0.701 |
|
| 2016 |
van der Werf IM, Van Dijck A, Reyniers E, Helsmoortel C, Kumar AA, Kalscheuer VM, de Brouwer AP, Kleefstra T, van Bokhoven H, Mortier G, Janssens S, Vandeweyer G, Frank Kooy R. Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. Gene. PMID 27993705 DOI: 10.1016/J.Gene.2016.12.013 |
0.458 |
|
| 2016 |
Bramswig NC, Lüdecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, ... ... Kleefstra T, et al. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Human Genetics. 136: 179-192. PMID 27848077 DOI: 10.1007/S00439-016-1743-X |
0.47 |
|
| 2016 |
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE. Tooth agenesis and orofacial clefting: genetic brothers in arms? Human Genetics. PMID 27699475 DOI: 10.1007/S00439-016-1733-Z |
0.377 |
|
| 2016 |
Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, ... ... Kleefstra T, et al. The molecular and phenotypic spectrum of IQSEC2-related epilepsy. Epilepsia. PMID 27665735 DOI: 10.1111/Epi.13560 |
0.328 |
|
| 2016 |
Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, et al. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry. PMID 27550844 DOI: 10.1038/Mp.2016.135 |
0.467 |
|
| 2016 |
Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nature Neuroscience. PMID 27479843 DOI: 10.1038/Nn.4352 |
0.385 |
|
| 2016 |
Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MA, Ansar M, ... ... Kleefstra T, et al. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Molecular Psychiatry. PMID 27457812 DOI: 10.1038/Mp.2016.109 |
0.398 |
|
| 2016 |
Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, ... ... Kleefstra T, et al. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. American Journal of Human Genetics. PMID 27453576 DOI: 10.1016/J.Ajhg.2016.05.030 |
0.491 |
|
| 2016 |
Witteveen JS, Willemsen MH, Dombroski TC, van Bakel NH, Nillesen WM, van Hulten JA, Jansen EJ, Verkaik D, Veenstra-Knol HE, van Ravenswaaij-Arts CM, Wassink-Ruiter JS, Vincent M, David A, Le Caignec C, Schieving J, ... ... Kleefstra T, et al. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nature Genetics. PMID 27399968 DOI: 10.1038/Ng.3619 |
0.474 |
|
| 2016 |
Verhoeven WM, Egger JI, Knegt AC, Zuydam J, Kleefstra T. 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. Neuropsychiatric Disease and Treatment. 12: 1135-1139. PMID 27274247 DOI: 10.2147/Ndt.S102272 |
0.675 |
|
| 2016 |
Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K, Kleefstra T, de Munnik SA, Schuurs-Hoeijmakers J, Ceulemans B, Zollino M, Hoffjan S, Wieczorek S, So J, Mercer L, Walker T, et al. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Journal of Medical Genetics. PMID 27075013 DOI: 10.1136/Jmedgenet-2015-103601 |
0.482 |
|
| 2016 |
Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IA, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, Roa Fuentes L, van de Vorst M, Henkes A, ... ... Kleefstra T, et al. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26963285 DOI: 10.1038/Gim.2016.10 |
0.385 |
|
| 2016 |
Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, ... ... Kleefstra T, et al. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American Journal of Human Genetics. 98: 541-552. PMID 26942287 DOI: 10.1016/J.Ajhg.2016.02.004 |
0.497 |
|
| 2016 |
Schönewolf-Greulich B, Tejada MI, Stephens K, Hadzsiev K, Gauthier J, Brøndum-Nielsen K, Pfundt R, Ravn K, Maortua H, Gener B, Martínez-Bouzas C, Piton A, Rouleau G, Clayton-Smith J, Kleefstra T, et al. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. Clinical Genetics. 89: 733-8. PMID 26936630 DOI: 10.1111/Cge.12769 |
0.396 |
|
| 2016 |
Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, ... ... Kleefstra T, et al. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. American Journal of Human Genetics. PMID 26833328 DOI: 10.1016/J.Ajhg.2015.12.015 |
0.43 |
|
| 2016 |
Egger JIM, Zwanenburg RJ, Ravenswaaij-Arts CMAv, Kleefstra T, Verhoeven WMA. Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy. Genes, Brain and Behavior. 15: 395-404. PMID 26824576 DOI: 10.1111/Gbb.12285 |
0.5 |
|
| 2016 |
Lugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, van Bon BW, Smeets E, Vulto-van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, ... ... Kleefstra T, et al. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. European Journal of Human Genetics : Ejhg. PMID 26757981 DOI: 10.1038/Ejhg.2015.282 |
0.482 |
|
| 2016 |
Jansen S, Kleefstra T, Willemsen MH, de Vries P, Pfundt R, Hehir-Kwa JY, Gilissen C, Veltman JA, de Vries BB, Vissers LE. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. Clinical Genetics. 90: 413-419. PMID 26752331 DOI: 10.1111/Cge.12729 |
0.406 |
|
| 2016 |
Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, Oortveld MA, Kleefstra T, Kramer JM, Webber C, Huynen MA, Schenck A. Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. American Journal of Human Genetics. 98: 149-64. PMID 26748517 DOI: 10.1016/J.Ajhg.2015.11.024 |
0.455 |
|
| 2015 |
O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, ... ... Kleefstra T, et al. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. American Journal of Human Genetics. 97: 922-32. PMID 26637982 DOI: 10.1016/J.Ajhg.2015.11.005 |
0.479 |
|
| 2015 |
Agha Z, Iqbal Z, Kleefstra T, Zweier C, Pfundt R, Qamar R, VAN Bokhoven H, Willemsen MH. A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis. Genetics Research. 97: e19. PMID 26438105 DOI: 10.1017/S001667231500021X |
0.448 |
|
| 2015 |
Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, ... ... Kleefstra T, et al. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. American Journal of Human Genetics. 97: 493-500. PMID 26340335 DOI: 10.1016/J.Ajhg.2015.08.003 |
0.397 |
|
| 2015 |
Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ. 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. Human Genetics. 134: 1089-97. PMID 26264464 DOI: 10.1007/S00439-015-1590-1 |
0.437 |
|
| 2015 |
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, ... ... Kleefstra T, et al. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. American Journal of Human Genetics. PMID 26235985 DOI: 10.1016/J.Ajhg.2015.07.004 |
0.401 |
|
| 2015 |
Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, et al. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. The Journal of Clinical Investigation. 125: 3051-62. PMID 26168268 DOI: 10.1172/Jci79860 |
0.352 |
|
| 2015 |
Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels RJ, Meisler MH, Kamsteeg EJ. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. Journal of Medical Genetics. 52: 330-7. PMID 25725044 DOI: 10.1136/Jmedgenet-2014-102813 |
0.372 |
|
| 2015 |
van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, et al. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Molecular Psychiatry. PMID 25707398 DOI: 10.1038/Mp.2015.5 |
0.522 |
|
| 2015 |
Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, ... ... Kleefstra T, et al. Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. American Journal of Human Genetics. 96: 386-96. PMID 25704603 DOI: 10.1016/J.Ajhg.2015.01.010 |
0.389 |
|
| 2015 |
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, ... ... Kleefstra T, et al. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Human Mutation. 36: 454-62. PMID 25655089 DOI: 10.1002/Humu.22761 |
0.327 |
|
| 2015 |
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, ... ... Kleefstra T, et al. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry. PMID 25644381 DOI: 10.1038/Mp.2014.193 |
0.379 |
|
| 2015 |
Verhoeven WM, Egger JI, van den Bergh JP, van Beek R, Kleefstra T, de Leeuw N. A 12q24.31 interstitial deletion in an adult male with MODY3: neuropsychiatric and neuropsychological characteristics. American Journal of Medical Genetics. Part A. 167: 169-73. PMID 25425063 DOI: 10.1002/Ajmg.A.36730 |
0.631 |
|
| 2015 |
Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, ... ... Kleefstra T, et al. Variants in CUL4B are associated with cerebral malformations. Human Mutation. 36: 106-17. PMID 25385192 DOI: 10.1002/Humu.22718 |
0.338 |
|
| 2015 |
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Büttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, ... ... Kleefstra T, et al. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Human Genetics. 134: 97-109. PMID 25326669 DOI: 10.1007/S00439-014-1498-1 |
0.41 |
|
| 2015 |
Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, ... ... Kleefstra T, et al. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Human Mutation. 36: 69-78. PMID 25265257 DOI: 10.1002/Humu.22709 |
0.346 |
|
| 2015 |
Reynaert N, Ockeloen CW, Sävendahl L, Beckers D, Devriendt K, Kleefstra T, Carels CEL, Grigelioniene G, Nordgren A, Francois I, De Zegher F, Casteels K. Short stature in KBG syndrome: First responses to growth hormone treatment Hormone Research in Paediatrics. 83: 361-364. DOI: 10.1159/000380908 |
0.358 |
|
| 2014 |
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, ... ... Kleefstra T, et al. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European Journal of Human Genetics : Ejhg. PMID 25424714 DOI: 10.1038/Ejhg.2014.253 |
0.476 |
|
| 2014 |
Snijders Blok C, Corsten-Janssen N, FitzPatrick DR, Romano C, Fichera M, Vitello GA, Willemsen MH, Schoots J, Pfundt R, van Ravenswaaij-Arts CM, Hoefsloot L, Kleefstra T. Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes. American Journal of Medical Genetics. Part A. 164: 2843-8. PMID 25251717 DOI: 10.1002/Ajmg.A.36680 |
0.428 |
|
| 2014 |
Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, ... ... Kleefstra T, et al. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 166: 315-26. PMID 25169753 DOI: 10.1002/Ajmg.C.31413 |
0.458 |
|
| 2014 |
Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, ... ... Kleefstra T, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 511: 344-7. PMID 24896178 DOI: 10.1038/Nature13394 |
0.417 |
|
| 2014 |
Tucci V, Kleefstra T, Hardy A, Heise I, Maggi S, Willemsen MH, Hilton H, Esapa C, Simon M, Buenavista MT, McGuffin LJ, Vizor L, Dodero L, Tsaftaris S, Romero R, et al. Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. The Journal of Clinical Investigation. 124: 1468-82. PMID 24614104 DOI: 10.1172/Jci70372 |
0.354 |
|
| 2014 |
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, ... ... Kleefstra T, et al. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nature Genetics. 46: 380-4. PMID 24531329 DOI: 10.1038/Ng.2899 |
0.525 |
|
| 2014 |
Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, de Leeuw N, Qamar R, van Bokhoven H. A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. Gene. 538: 30-5. PMID 24440292 DOI: 10.1016/J.Gene.2014.01.027 |
0.453 |
|
| 2014 |
Kleefstra T, Schenck A, Kramer JM, Bokhoven Hv. The genetics of cognitive epigenetics. Neuropharmacology. 80: 83-94. PMID 24434855 DOI: 10.1016/J.Neuropharm.2013.12.025 |
0.787 |
|
| 2014 |
Vink CP, Ockeloen CW, Kate St, Koolen DA, Amstel JKPv, Kuijpers-Jagtman A, Heumen CCv, Kleefstra T, Carels CEL. Variability in dentofacial phenotypes in four families with WNT10A mutations European Journal of Human Genetics. 22: 1063-1070. PMID 24398796 DOI: 10.1038/Ejhg.2013.300 |
0.439 |
|
| 2014 |
Balemans MC, Ansar M, Oudakker AR, van Caam AP, Bakker B, Vitters EL, van der Kraan PM, de Bruijn DR, Janssen SM, Kuipers AJ, Huibers MM, Maliepaard EM, Walboomers XF, Benevento M, Nadif Kasri N, ... Kleefstra T, et al. Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice. Developmental Biology. 386: 395-407. PMID 24362066 DOI: 10.1016/J.Ydbio.2013.12.016 |
0.341 |
|
| 2014 |
Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, ... ... Kleefstra T, et al. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Human Genetics. 133: 625-38. PMID 24326587 DOI: 10.1007/S00439-013-1403-3 |
0.422 |
|
| 2014 |
Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, et al. Extreme growth failure is a common presentation of ligase IV deficiency. Human Mutation. 35: 76-85. PMID 24123394 DOI: 10.1002/Humu.22461 |
0.414 |
|
| 2014 |
de Brouwer AP, Nabuurs SB, Verhaart IE, Oudakker AR, Hordijk R, Yntema HG, Hordijk-Hos JM, Voesenek K, de Vries BB, van Essen T, Chen W, Hu H, Chelly J, den Dunnen JT, Kalscheuer VM, ... ... Kleefstra T, et al. A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European Journal of Human Genetics : Ejhg. 22: 480-5. PMID 23900271 DOI: 10.1038/Ejhg.2013.169 |
0.376 |
|
| 2014 |
Willemsen MH, Kleefstra T. Making headway with genetic diagnostics of intellectual disabilities. Clinical Genetics. 85: 101-110. PMID 23895455 DOI: 10.1111/Cge.12244 |
0.384 |
|
| 2014 |
Feberwee HE, Feenstra I, Oberoi S, Sama IE, Ockeloen CW, Clum F, Slavotinek A, Kuijpers MAR, Dooijes D, Kuijpers-Jagtman AM, Kleefstra T, Carels C. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome Clinical Genetics. 85: 194-197. PMID 23557072 DOI: 10.1111/Cge.12125 |
0.436 |
|
| 2014 |
Scholtes E, Kawamoto T, Ockeloen CW, Kleefstra T, Carels C. Solitary median maxillary central incisor syndrome Nederlands Tijdschrift Voor Tandheelkunde. 121: 435-442. DOI: 10.5177/Ntvt.2014.09.13260 |
0.455 |
|
| 2013 |
Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, ... ... Kleefstra T, et al. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. Journal of Medical Genetics. 50: 802-11. PMID 24123876 DOI: 10.1136/Jmedgenet-2013-101644 |
0.325 |
|
| 2013 |
Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, ... ... Kleefstra T, et al. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. Journal of Medical Genetics. 50: 507-14. PMID 23644463 DOI: 10.1136/Jmedgenet-2012-101490 |
0.417 |
|
| 2013 |
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Journal of Medical Genetics. 50: 463-72. PMID 23644449 DOI: 10.1136/Jmedgenet-2013-101658 |
0.449 |
|
| 2013 |
Goubau C, Devriendt K, Van der Aa N, Crepel A, Wieczorek D, Kleefstra T, Willemsen MH, Rauch A, Tzschach A, de Ravel T, Leemans P, Van Geet C, Buyse G, Freson K. Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. European Journal of Human Genetics : Ejhg. 21: 1349-55. PMID 23632790 DOI: 10.1038/Ejhg.2013.86 |
0.375 |
|
| 2013 |
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, et al. Mutations in MED12 cause X-linked Ohdo syndrome. American Journal of Human Genetics. 92: 401-6. PMID 23395478 DOI: 10.1016/J.Ajhg.2013.01.007 |
0.372 |
|
| 2013 |
Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, et al. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. Journal of Inherited Metabolic Disease. 36: 913-21. PMID 23355087 DOI: 10.1007/S10545-012-9579-6 |
0.418 |
|
| 2013 |
Iqbal Z, Shahzad M, Vissers LE, van Scherpenzeel M, Gilissen C, Razzaq A, Zahoor MY, Khan SN, Kleefstra T, Veltman JA, de Brouwer AP, Lefeber DJ, van Bokhoven H, Riazuddin S. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. European Journal of Human Genetics : Ejhg. 21: 844-9. PMID 23249953 DOI: 10.1038/Ejhg.2012.257 |
0.446 |
|
| 2012 |
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, et al. Diagnostic exome sequencing in persons with severe intellectual disability. The New England Journal of Medicine. 367: 1921-9. PMID 23033978 DOI: 10.1056/NEJMoa1206524 |
0.34 |
|
| 2012 |
Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, et al. Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. American Journal of Human Genetics. 91: 73-82. PMID 22726846 DOI: 10.1016/J.Ajhg.2012.05.003 |
0.352 |
|
| 2012 |
Willemsen MH, Rensen JHM, Valk HMJvSd, Hamel BCJ, Kleefstra T. Adult Phenotypes in Angelman- and Rett-Like Syndromes Molecular Syndromology. 2: 217-234. PMID 22670143 DOI: 10.1159/000335661 |
0.436 |
|
| 2012 |
Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, ... ... Kleefstra T, et al. Update on Kleefstra Syndrome. Molecular Syndromology. 2: 202-212. PMID 22670141 DOI: 10.1159/000335648 |
0.471 |
|
| 2012 |
Verhoeven WM, Egger JI, Willemsen MH, Leijer GJd, Kleefstra T. Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? Neuropsychiatric Disease and Treatment. 8: 175-179. PMID 22570549 DOI: 10.2147/Ndt.S30506 |
0.727 |
|
| 2012 |
Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, ... ... Kleefstra T, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics. 44: 440-4, S1-2. PMID 22366783 DOI: 10.1038/Ng.1091 |
0.487 |
|
| 2012 |
De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F. Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. Clinical Genetics. 82: 395-403. PMID 22091895 DOI: 10.1111/J.1399-0004.2011.01810.X |
0.418 |
|
| 2012 |
Egger JIM, Koolen D, Wingbermühle E, Verhoeven WMA, Kleefstra T, Vries BBAD. W01-03 - Neuropsychological phenotyping of genetic syndromes European Psychiatry. 27: 1. DOI: 10.1016/S0924-9338(12)75670-5 |
0.8 |
|
| 2012 |
Feenstra I, Bon BWV, Koolen DA, Pfundt R, Kleefstra T, Leeuw ND. W01-01 - From karyotype to targeted microarray European Psychiatry. 27: 1. DOI: 10.1016/S0924-9338(12)75668-7 |
0.492 |
|
| 2011 |
Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T. Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. American Journal of Medical Genetics. Part A. 155: 2409-15. PMID 21910222 DOI: 10.1002/Ajmg.A.34186 |
0.816 |
|
| 2011 |
Nillesen WM, Yntema HG, Moscarda M, Verbeek NE, Wilson LC, Cowan F, Schepens M, Raas-Rothschild A, Gafni-Weinstein O, Zollino M, Vijzelaar R, Neri G, Nelen M, Bokhoven HV, Giltay J, ... Kleefstra T, et al. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome Human Mutation. 32: 853-859. PMID 21538692 DOI: 10.1002/Humu.21523 |
0.8 |
|
| 2011 |
Willemsen MH, de Leeuw N, Mercer C, Eisenhauer H, Morris J, Collinson MN, Barber JC, Lam ST, Lo IF, Rensen H, Ferwerda A, Hamel BC, Kleefstra T. Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions. American Journal of Medical Genetics. Part A. 155: 106-12. PMID 21204216 DOI: 10.1002/ajmg.a.33715 |
0.36 |
|
| 2011 |
Van Den Ouweland AMW, Elfferich P, Zonnenberg BA, Arts WF, Kleefstra T, Nellist MD, Millan JM, Withagen-Hermans C, Maat-Kievit AJA, Halley DJJ. Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients European Journal of Human Genetics. 19: 157-163. PMID 20877415 DOI: 10.1038/Ejhg.2010.156 |
0.401 |
|
| 2011 |
Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS. Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. European Journal of Human Genetics : Ejhg. 19: 56-63. PMID 20717164 DOI: 10.1038/Ejhg.2010.134 |
0.354 |
|
| 2011 |
Verhoeven WMA, Kleefstra T, Egger JIM. P02-223 - Kleefstra syndrome: neuropsychiatric sequelae European Psychiatry. 26: 819-819. DOI: 10.1016/S0924-9338(11)72524-X |
0.509 |
|
| 2010 |
Wincent J, Bruno DL, van Bon BW, Bremer A, Stewart H, Bongers EM, Ockeloen CW, Willemsen MH, Keays DD, Baird G, Newbury DF, Kleefstra T, Marcelis C, Kini U, Stark Z, et al. Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. Molecular Syndromology. 1: 246-254. PMID 22140377 DOI: 10.1159/000327982 |
0.372 |
|
| 2010 |
de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB, van Bokhoven H, de Brouwer AP. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. American Journal of Medical Genetics. Part A. 152: 3084-90. PMID 21108393 DOI: 10.1002/Ajmg.A.33743 |
0.428 |
|
| 2010 |
Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. European Journal of Human Genetics : Ejhg. 18: 429-35. PMID 19920853 DOI: 10.1038/Ejhg.2009.192 |
0.415 |
|
| 2010 |
Verhoeven WMA, Kleefstra T, Egger JIM. Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 536-541. PMID 19642112 DOI: 10.1002/Ajmg.B.31015 |
0.346 |
|
| 2009 |
Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. American Journal of Human Genetics. 85: 465-81. PMID 19800048 DOI: 10.1016/J.Ajhg.2009.09.002 |
0.33 |
|
| 2009 |
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, ... ... Kleefstra T, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics. 46: 511-23. PMID 19372089 DOI: 10.1136/Jmg.2008.063412 |
0.426 |
|
| 2009 |
Ravenswaaij-Arts CMAv, Kleefstra T. Emerging microdeletion and microduplication syndromes; the counseling paradigm. European Journal of Medical Genetics. 52: 75-76. PMID 19324103 DOI: 10.1016/J.Ejmg.2009.03.007 |
0.418 |
|
| 2009 |
Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. European Journal of Medical Genetics. 52: 148-152. PMID 19303466 DOI: 10.1016/J.Ejmg.2009.03.004 |
0.48 |
|
| 2009 |
Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics. 46: 598-606. PMID 19264732 DOI: 10.1136/Jmg.2008.062950 |
0.375 |
|
| 2009 |
Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, et al. Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy (European Journal of Human Genetics (2009) vol. 17 (444-453) 10.1038/ejhg.2008.208) European Journal of Human Genetics. 17. DOI: 10.1038/Ejhg.2008.262 |
0.327 |
|
| 2007 |
Stewart DR, Kleefstra T. The chromosome 9q subtelomere deletion syndrome. American Journal of Medical Genetics Part C-Seminars in Medical Genetics. 145: 383-392. PMID 17910072 DOI: 10.1002/Ajmg.C.30148 |
0.444 |
|
| 2007 |
Rosenberg EH, Muñoz CM, Betsalel OT, Dooren SJMv, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Human Mutation. 28: 890-896. PMID 17465020 DOI: 10.1002/Humu.20532 |
0.323 |
|
| 2006 |
Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, Van Esch H, Fryns JP, Hamel BCJ, Sistermans EA, De Vries BBA, Van Bokhoven H. Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome American Journal of Human Genetics. 79: 370-377. PMID 16826528 DOI: 10.1086/505693 |
0.362 |
|
| 2006 |
Tzschach A, Lenzner S, Moser B, Reinhardt R, Chelly J, Fryns JP, Kleefstra T, Raynaud M, Turner G, Ropers HH, Kuss A, Jensen LR. Novel JARID1C/SMCX mutations in patients with X-linked mental retardation Human Mutation. 27: 389. PMID 16541399 DOI: 10.1002/Humu.9420 |
0.447 |
|
| 2006 |
Kleefstra T, Koolen DA, Nillesen WM, de Leeuw N, Hamel BC, Veltman JA, Sistermans EA, van Bokhoven H, van Ravenswaay C, de Vries BB. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. American Journal of Medical Genetics. Part A. 140: 618-23. PMID 16470689 DOI: 10.1002/ajmg.a.31123 |
0.325 |
|
| 2005 |
Lugtenberg D, Brouwer APMd, Kleefstra T, Oudakker AR, Frints S, Schrander-Stumpel CTRM, Fryns J, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BCJ, Vries BBAd, Bokhoven Hv, et al. Chromosomal copy number changes in patients with non-syndromic X-linked mental retardation detected by array CGH Journal of Medical Genetics. 43: 362-370. PMID 16169931 DOI: 10.1136/Jmg.2005.036178 |
0.344 |
|
| 2005 |
Kleefstra T, Rosenberg EH, Salomons GS, Stroink H, Bokhoven JHLMv, Hamel BCJ, Vries LBAd. Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation Clinical Genetics. 68: 379-381. PMID 16143026 DOI: 10.1111/J.1399-0004.2005.00489.X |
0.347 |
|
| 2005 |
Kleefstra T, Hamel BCJ. X-linked mental retardation: further lumping, splitting and emerging phenotypes. Clinical Genetics. 67: 451-467. PMID 15857409 DOI: 10.1111/J.1399-0004.2005.00434.X |
0.489 |
|
| 2005 |
Kleefstra T, Smidt M, Banning MJG, Oudakker AR, Van Esch H, De Brouwer APM, Nillesen W, Sistermans EA, Hamel BCJ, De Bruijn D, Fryns JP, Yntema HG, Brunner HG, De Vries BBA, Van Bokhoven H. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome Journal of Medical Genetics. 42: 299-306. PMID 15805155 DOI: 10.1136/Jmg.2004.028464 |
0.403 |
|
| 2005 |
Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BCJ, Schwartz CE. Renpenning syndrome comes into focus. American Journal of Medical Genetics Part A. 134: 415-421. PMID 15782410 DOI: 10.1002/Ajmg.A.30664 |
0.461 |
|
| 2005 |
Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gécz J, et al. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation American Journal of Human Genetics. 76: 227-236. PMID 15586325 DOI: 10.1086/427563 |
0.388 |
|
| 2004 |
Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clinical Genetics. 66: 318-26. PMID 15355434 DOI: 10.1111/j.1399-0004.2004.00308.x |
0.336 |
|
| 2004 |
Rosenberg EH, Almeida LS, Kleefstra T, DeGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, DeGrauw TJ, Jakobs C, Salomons GS. High prevalence of SLC6A8 deficiency in X-linked mental retardation American Journal of Human Genetics. 75: 97-105. PMID 15154114 DOI: 10.1086/422102 |
0.349 |
|
| 2004 |
Kleefstra T, Yntema HG, Oudakker AR, Banning MJG, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, De Vries LBA, Hamel BCJ, Van Bokhoven H. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation Journal of Medical Genetics. 41: 394-399. PMID 15121780 DOI: 10.1136/Jmg.2003.016972 |
0.5 |
|
| 2004 |
Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, et al. The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clinical Genetics. 65: 226-32. PMID 14756673 DOI: 10.1111/J.0009-9163.2004.00215.X |
0.423 |
|
| 2004 |
Kleefstra T, Yntema HG, Nillesen WM, Oudakker AR, Mullaart RA, Geerdink N, Bokhoven HV, Vries BBAD, Sistermans EA, Hamel BCJ. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. European Journal of Human Genetics. 12: 24-28. PMID 14560307 DOI: 10.1038/Sj.Ejhg.5201080 |
0.811 |
|
| 2002 |
Kleefstra T, Yntema HG, Oudakker AR, Vries BBAd, Bokhoven Hv, Hamel BCJ, Poppelaars FA, Ausems MGEM. Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. American Journal of Medical Genetics. 110: 410-411. PMID 12116222 DOI: 10.1002/Ajmg.10483 |
0.763 |
|
| 2002 |
Yntema HG, Kleefstra T, Oudakker AR, Romein T, Vries BBAd, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, Bokhoven Hv. Low frequency of MECP2 mutations in mentally retarded males. European Journal of Human Genetics. 10: 487-490. PMID 12111644 DOI: 10.1038/Sj.Ejhg.5200836 |
0.784 |
|
| 2002 |
Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans EA, Nillessen W, Bokhoven JHLMv, Vries LBAd, Hamel BCJ. De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Clinical Genetics. 61: 359-362. PMID 12081720 DOI: 10.1034/J.1399-0004.2002.610507.X |
0.475 |
|
| 2002 |
Yntema HG, Oudakker AR, Kleefstra T, Hamel BCJ, Bokhoven Hv, Chelly J, Kalscheuer VM, Fryns J, Raynaud M, Moizard M, Moraine C. In-frame deletion in MECP2 causes mild nonspecific mental retardation American Journal of Medical Genetics. 107: 81-83. PMID 11807877 DOI: 10.1002/Ajmg.10085 |
0.775 |
|
| 2001 |
Warrenburg BPCvd, Frenken CWGM, Ausems MGEM, Kleefstra T, Sinke RJ, Knoers NVAM, Kremer HPH. Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype Journal of Neurology. 248: 911-914. PMID 11697534 DOI: 10.1007/S004150170082 |
0.307 |
|
| Show low-probability matches. |