| Year |
Citation |
Score |
| 2023 |
Annear DJ, Kooy RF. Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions. Emerging Topics in Life Sciences. PMID 37768318 DOI: 10.1042/ETLS20230021 |
0.34 |
|
| 2023 |
Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, ... ... Kooy RF, et al. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation. Cells. 12. PMID 37759552 DOI: 10.3390/cells12182330 |
0.31 |
|
| 2023 |
Willemsen R, Kooy RF. Mouse models of fragile X-related disorders. Disease Models & Mechanisms. 16. PMID 36692473 DOI: 10.1242/dmm.049485 |
0.336 |
|
| 2021 |
Annear DJ, Vandeweyer G, Elinck E, Sanchis-Juan A, French CE, Raymond L, Kooy RF. Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease. Scientific Reports. 11: 2515. PMID 33510257 DOI: 10.1038/s41598-021-82050-5 |
0.336 |
|
| 2020 |
Garg P, Jadhav B, Rodriguez OL, Patel N, Martin-Trujillo A, Jain M, Metsu S, Olsen H, Paten B, Ritz B, Kooy RF, Gecz J, Sharp AJ. A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. American Journal of Human Genetics. PMID 32937144 DOI: 10.1016/J.Ajhg.2020.08.019 |
0.414 |
|
| 2020 |
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, ... ... Kooy RF, et al. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain : a Journal of Neurology. PMID 32761064 DOI: 10.1093/Brain/Awaa204 |
0.322 |
|
| 2020 |
Grigg I, Ivashko-Pachima Y, Hait TA, Korenková V, Touloumi O, Lagoudaki R, Van Dijck A, Marusic Z, Anicic M, Vukovic J, Kooy RF, Grigoriadis N, Gozes I. Tauopathy in the young autistic brain: novel biomarker and therapeutic target. Translational Psychiatry. 10: 228. PMID 32661233 DOI: 10.1038/S41398-020-00904-4 |
0.404 |
|
| 2020 |
van der Werf IM, Jansen S, de Vries PF, Gerstmans A, van de Vorst M, Van Dijck A, de Vries BBA, Gilissen C, Hoischen A, Vissers LELM, Kooy RF, Vandeweyer G. Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders. European Journal of Human Genetics : Ejhg. 28: 1726-1733. PMID 32651551 DOI: 10.1038/S41431-020-0682-0 |
0.327 |
|
| 2020 |
Van Dijck A, Barbosa S, Bermudez-Martin P, Khalfallah O, Gilet C, Martinuzzi E, Elinck E, Kooy RF, Glaichenhaus N, Davidovic L. Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome. Bmc Neurology. 20: 138. PMID 32295518 DOI: 10.1186/S12883-020-01715-2 |
0.363 |
|
| 2020 |
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, ... ... Kooy RF, et al. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human Molecular Genetics. PMID 32027362 DOI: 10.1093/Hmg/Ddz173 |
0.38 |
|
| 2020 |
Ciolfi A, Aref-Eshghi E, Pizzi S, Pedace L, Miele E, Kerkhof J, Flex E, Martinelli S, Radio FC, Ruivenkamp CAL, Santen GWE, Bijlsma E, Barge-Schaapveld D, Ounap K, Siu VM, ... Kooy RF, et al. Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature. Clinical Epigenetics. 12: 7. PMID 31910894 DOI: 10.1186/S13148-019-0804-0 |
0.381 |
|
| 2019 |
Van der Aa N, Kooy RF. GABAergic abnormalities in the fragile X syndrome. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 24: 100-104. PMID 31926845 DOI: 10.1016/J.Ejpn.2019.12.022 |
0.404 |
|
| 2019 |
Ivashko-Pachima Y, Hadar A, Grigg I, Korenková V, Kapitansky O, Karmon G, Gershovits M, Sayas CL, Kooy RF, Attems J, Gurwitz D, Gozes I. Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study. Molecular Psychiatry. PMID 31664177 DOI: 10.1038/S41380-019-0563-5 |
0.351 |
|
| 2019 |
Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, ... ... Kooy RF, et al. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. American Journal of Human Genetics. PMID 31447100 DOI: 10.1016/J.Ajhg.2019.07.007 |
0.375 |
|
| 2019 |
Moskalyuk A, Van De Vijver S, Verstraelen P, De Vos WH, Kooy RF, Giugliano M. Single-Cell and Neuronal Network Alterations in an In Vitro Model of Fragile X Syndrome. Cerebral Cortex (New York, N.Y. : 1991). PMID 30958540 DOI: 10.1093/Cercor/Bhz068 |
0.333 |
|
| 2019 |
Leboucher A, Pisani DF, Martinez-Gili L, Chilloux J, Bermudez-Martin P, Van Dijck A, Ganief T, Macek B, Becker JAJ, Le Merrer J, Kooy RF, Amri EZ, Khandjian EW, Dumas ME, Davidovic L. The translational regulator FMRP controls lipid and glucose metabolism in mice and humans. Molecular Metabolism. PMID 30686771 DOI: 10.1016/J.Molmet.2019.01.002 |
0.367 |
|
| 2019 |
Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, ... ... Kooy RF, et al. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. European Journal of Human Genetics : Ejhg. PMID 30679813 DOI: 10.1038/S41431-018-0292-2 |
0.436 |
|
| 2018 |
Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, ... ... Kooy RF, et al. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30190612 DOI: 10.1038/S41436-018-0266-3 |
0.332 |
|
| 2018 |
Cappuyns E, Huyghebaert J, Vandeweyer G, Kooy RF. Mutations in ADNP affect expression and subcellular localization of the protein. Cell Cycle (Georgetown, Tex.). PMID 29911927 DOI: 10.1080/15384101.2018.1471313 |
0.342 |
|
| 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, ... ... Kooy RF, 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 |
0.406 |
|
| 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, ... ... Kooy RF, 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 |
0.423 |
|
| 2017 |
Jensen M, Kooy RF, Simon TJ, Reyniers E, Girirajan S, Tassone F. A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome. European Journal of Medical Genetics. PMID 29191496 DOI: 10.1016/J.Ejmg.2017.11.016 |
0.41 |
|
| 2017 |
Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ. Fragile X syndrome. Nature Reviews. Disease Primers. 3: 17065. PMID 28960184 DOI: 10.1038/nrdp.2017.65 |
0.315 |
|
| 2017 |
Ligsay A, Van Dijck A, Nguyen DV, Lozano R, Chen Y, Bickel ES, Hessl D, Schneider A, Angkustsiri K, Tassone F, Ceulemans B, Kooy RF, Hagerman RJ. A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome. Journal of Neurodevelopmental Disorders. 9: 26. PMID 28764646 DOI: 10.1186/S11689-017-9207-8 |
0.307 |
|
| 2017 |
Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, ... ... Kooy RF, et al. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nature Neuroscience. PMID 28628100 DOI: 10.1038/Nn.4589 |
0.406 |
|
| 2017 |
Gozes I, Patterson MC, Van Dijck A, Kooy RF, Peeden JN, Eichenberger JA, Zawacki-Downing A, Bedrosian-Sermone S. The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings. Frontiers in Endocrinology. 8: 107. PMID 28579975 DOI: 10.3389/Fendo.2017.00107 |
0.421 |
|
| 2017 |
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, ... ... Kooy RF, et al. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature Genetics. PMID 28191889 DOI: 10.1038/Ng.3792 |
0.429 |
|
| 2016 |
Sabanov V, Braat S, D'Andrea L, Willemsem R, Zeidler S, Rooms L, Bagni C, Kooy RF, Balschun D. Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice. Neuropharmacology. PMID 28012946 DOI: 10.1016/J.Neuropharm.2016.12.010 |
0.324 |
|
| 2016 |
van der Werf IM, Buiting K, Czeschik C, Reyniers E, Vandeweyer G, Vanhaesebrouck P, Lüdecke HJ, Wieczorek D, Horsthemke B, Mortier G, Leroy JG, Kooy RF. Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. European Journal of Human Genetics : Ejhg. PMID 27406249 DOI: 10.1038/Ejhg.2016.82 |
0.431 |
|
| 2016 |
Helsmoortel C, Swagemakers SM, Vandeweyer G, Stubbs AP, Palli I, Mortier G, Kooy RF, van der Spek PJ. Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 27380831 DOI: 10.1002/Ajmg.B.32473 |
0.424 |
|
| 2016 |
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, ... ... Kooy RF, et al. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Molecular Psychiatry. PMID 27240531 DOI: 10.1038/Mp.2016.84 |
0.409 |
|
| 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, ... ... Kooy RF, 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 |
0.397 |
|
| 2015 |
Meerschaut I, Bordon V, Dhooge C, Delbeke P, Vanlander AV, Simon A, Klein C, Kooy RF, Somech R, Callewaert B. Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. American Journal of Medical Genetics. Part A. PMID 26358756 DOI: 10.1002/Ajmg.A.37367 |
0.35 |
|
| 2015 |
Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, ... Kooy RF, et al. Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities. European Journal of Medical Genetics. 58: 503-508. PMID 26327614 DOI: 10.1016/J.Ejmg.2015.08.004 |
0.361 |
|
| 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, ... ... Kooy RF, 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 |
0.391 |
|
| 2015 |
D'Hulst C, Heulens I, Van der Aa N, Goffin K, Koole M, Porke K, Van De Velde M, Rooms L, Van Paesschen W, Van Esch H, Van Laere K, Kooy RF. Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. Plos One. 10: e0131486. PMID 26222316 DOI: 10.1371/Journal.Pone.0131486 |
0.332 |
|
| 2015 |
Braat S, Kooy RF. The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders. Neuron. 86: 1119-30. PMID 26050032 DOI: 10.1016/J.Neuron.2015.03.042 |
0.369 |
|
| 2015 |
Braat S, D'Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, Willemsen R, Bagni C, Van Dam D, De Deyn PP, Kooy RF. The GABAA Receptor is an FMRP Target with Therapeutic Potential in Fragile X Syndrome. Cell Cycle (Georgetown, Tex.). 0. PMID 25790165 DOI: 10.4161/15384101.2014.989114 |
0.359 |
|
| 2015 |
Braat S, Kooy RF. Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials. Neuropharmacology. 88: 48-54. PMID 25016041 DOI: 10.1016/J.Neuropharm.2014.06.028 |
0.394 |
|
| 2014 |
Metsu S, Rainger JK, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, Weksberg R, Fombonne E, Taylor MS, Scherer SW, Kooy RF, FitzPatrick DR. A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families. Human Mutation. 35: 1295-300. PMID 25196122 DOI: 10.1002/Humu.22683 |
0.719 |
|
| 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, ... ... Kooy RF, 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 |
0.386 |
|
| 2014 |
Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Chilamakuri CS, Morrison H, Vandeweyer G, Reyniers E, Douglas E, Thompson G, Haan E, Gecz J, Fitzpatrick DR, ... Kooy RF, et al. FRA2A is a CGG repeat expansion associated with silencing of AFF3. Plos Genetics. 10: e1004242. PMID 24763282 DOI: 10.1371/Journal.Pgen.1004242 |
0.536 |
|
| 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, ... ... Kooy RF, 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 |
0.455 |
|
| 2014 |
Braat S, Kooy RF. Fragile X syndrome neurobiology translates into rational therapy. Drug Discovery Today. 19: 510-9. PMID 24508819 DOI: 10.1016/J.Drudis.2014.01.013 |
0.404 |
|
| 2013 |
Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Kooy RF, Hammond P. Craniofacial characteristics of fragile X syndrome in mouse and man. European Journal of Human Genetics : Ejhg. 21: 816-23. PMID 23211703 DOI: 10.1038/Ejhg.2012.265 |
0.365 |
|
| 2012 |
Helsmoortel C, Vandeweyer G, Kooy RF. On the spot: very local chromosomal rearrangements. F1000 Biology Reports. 4: 22. PMID 23189093 DOI: 10.3410/B4-22 |
0.354 |
|
| 2012 |
Van der Aa N, Vandeweyer G, Reyniers E, Kenis S, Dom L, Mortier G, Rooms L, Kooy RF. Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2. Autism Research : Official Journal of the International Society For Autism Research. 5: 277-81. PMID 22689534 DOI: 10.1002/Aur.1240 |
0.38 |
|
| 2012 |
Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. American Journal of Human Genetics. 90: 1071-8. PMID 22608712 DOI: 10.1016/J.Ajhg.2012.04.020 |
0.398 |
|
| 2012 |
Vandeweyer G, Van der Aa N, Ceulemans B, van Bon BW, Rooms L, Kooy RF. A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA. Epilepsy Research. 99: 346-9. PMID 22245136 DOI: 10.1016/J.Eplepsyres.2011.12.009 |
0.334 |
|
| 2011 |
Heulens I, Braat S, Kooy RF. Metabonomics adds a new dimension to fragile X syndrome. Genome Medicine. 3: 80. PMID 22204589 DOI: 10.1186/Gm296 |
0.382 |
|
| 2011 |
Rooms L, Kooy RF. Advances in understanding fragile X syndrome and related disorders. Current Opinion in Pediatrics. 23: 601-6. PMID 22001764 DOI: 10.1097/Mop.0B013E32834C7F1A |
0.405 |
|
| 2011 |
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, ... ... Kooy RF, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 478: 97-102. PMID 21881559 DOI: 10.1038/Nature10406 |
0.371 |
|
| 2011 |
Rooms L, Vandeweyer G, Reyniers E, van Mol K, de Canck I, Van der Aa N, Rossau R, Kooy RF. Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation. American Journal of Medical Genetics. Part A. 155: 343-8. PMID 21271651 DOI: 10.1002/Ajmg.A.33810 |
0.393 |
|
| 2010 |
Heulens I, D'Hulst C, Braat S, Rooms L, Kooy RF. Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome. Thescientificworldjournal. 10: 2198-206. PMID 21057732 DOI: 10.1100/Tsw.2010.211 |
0.383 |
|
| 2010 |
Kooy RF. Distinct disorders affecting the brain share common genetic origins. F1000 Biology Reports. 2. PMID 20948821 DOI: 10.3410/B2-11 |
0.36 |
|
| 2010 |
Van der Aa N, Vandeweyer G, Kooy RF. A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12. European Journal of Medical Genetics. 53: 291-3. PMID 20570643 DOI: 10.1016/J.Ejmg.2010.05.006 |
0.406 |
|
| 2010 |
Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, et al. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. Journal of Medical Genetics. 47: 299-311. PMID 20452996 DOI: 10.1136/Jmg.2009.069906 |
0.436 |
|
| 2009 |
D'Hulst C, Kooy RF. Fragile X syndrome: from molecular genetics to therapy. Journal of Medical Genetics. 46: 577-84. PMID 19724010 DOI: 10.1136/jmg.2008.064667 |
0.334 |
|
| 2009 |
Vandeweyer G, Kooy RF. Balanced translocations in mental retardation. Human Genetics. 126: 133-47. PMID 19347365 DOI: 10.1007/S00439-009-0661-6 |
0.443 |
|
| 2009 |
Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, ... ... Kooy RF, et al. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. European Journal of Medical Genetics. 52: 94-100. PMID 19249392 DOI: 10.1016/J.Ejmg.2009.02.006 |
0.412 |
|
| 2009 |
D'Hulst C, Heulens I, Brouwer JR, Willemsen R, De Geest N, Reeve SP, De Deyn PP, Hassan BA, Kooy RF. Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS). Brain Research. 1253: 176-83. PMID 19070606 DOI: 10.1016/J.Brainres.2008.11.075 |
0.443 |
|
| 2008 |
Koolen DA, Sistermans EA, Nilessen W, Knight SJL, Regan R, Liu YT, Kooy RF, Rooms L, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, van Kessel AG, et al. Identification of non-recurrent submicroscopic genome imbalances: The advantage of genome-wide microarrays over targeted approaches European Journal of Human Genetics. 16: 395-400. PMID 18159213 DOI: 10.1038/Sj.Ejhg.5201975 |
0.379 |
|
| 2007 |
Lirussi F, Jonard L, Gaston V, Sanlaville D, Kooy RF, Winnepenninckx B, Maher ER, Fitzpatrick DR, Gicquel C, Portnoï MF, Couderc R, Vazquez MP, Bahuau M. Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency. American Journal of Medical Genetics. Part A. 143: 2796-803. PMID 17994567 DOI: 10.1002/Ajmg.A.31768 |
0.396 |
|
| 2007 |
D'Hulst C, Kooy RF. The GABAA receptor: a novel target for treatment of fragile X? Trends in Neurosciences. 30: 425-31. PMID 17590448 DOI: 10.1016/J.Tins.2007.06.003 |
0.335 |
|
| 2007 |
Debacker K, Kooy RF. Fragile sites and human disease. Human Molecular Genetics. 16: R150-8. PMID 17567780 DOI: 10.1093/Hmg/Ddm136 |
0.712 |
|
| 2007 |
Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J. The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. American Journal of Human Genetics. 80: 372-7. PMID 17236142 DOI: 10.1086/511527 |
0.504 |
|
| 2007 |
Winnepenninckx B, Debacker K, Ramsay J, Smeets D, Smits A, FitzPatrick DR, Kooy RF. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. American Journal of Human Genetics. 80: 221-31. PMID 17236128 DOI: 10.1086/510800 |
0.731 |
|
| 2007 |
Rooms L, Reyniers E, Kooy RF. Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation. Human Mutation. 28: 177-82. PMID 16991117 DOI: 10.1002/Humu.20421 |
0.378 |
|
| 2006 |
D'Hulst C, De Geest N, Reeve SP, Van Dam D, De Deyn PP, Hassan BA, Kooy RF. Decreased expression of the GABAA receptor in fragile X syndrome. Brain Research. 1121: 238-45. PMID 17046729 DOI: 10.1016/J.Brainres.2006.08.115 |
0.346 |
|
| 2006 |
Koolen DA, Vissers LELM, Pfundt R, De Leeuw N, Knight SJL, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism Nature Genetics. 38: 999-1001. PMID 16906164 DOI: 10.1038/Ng1853 |
0.452 |
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| 2006 |
Rooms L, Reyniers E, Scheers S, van Luijk R, Wauters J, Van Aerschot L, Callaerts-Vegh Z, D'Hooge R, Mengus G, Davidson I, Courtens W, Kooy RF. TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions. European Journal of Human Genetics : Ejhg. 14: 1090-6. PMID 16773126 DOI: 10.1038/Sj.Ejhg.5201674 |
0.442 |
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| 2006 |
Gantois I, Vandesompele J, Speleman F, Reyniers E, D'Hooge R, Severijnen LA, Willemsen R, Tassone F, Kooy RF. Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model. Neurobiology of Disease. 21: 346-57. PMID 16199166 DOI: 10.1016/J.Nbd.2005.07.017 |
0.396 |
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| 2006 |
Gantois I, Kooy RF, Oostra BA. Fragile X-Linked Mental Retardation Reviews in Cell Biology and Molecular Medicine. DOI: 10.1002/3527600906.Mcb.200300051 |
0.47 |
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| 2005 |
Rooms L, Reyniers E, Kooy RF. Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods. Human Mutation. 25: 513-24. PMID 15880643 DOI: 10.1002/Humu.20185 |
0.356 |
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| 2005 |
Van Dam D, Errijgers V, Kooy RF, Willemsen R, Mientjes E, Oostra BA, De Deyn PP. Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). Behavioural Brain Research. 162: 233-9. PMID 15876460 DOI: 10.1016/J.Bbr.2005.03.007 |
0.401 |
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| 2005 |
van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF. Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. American Journal of Medical Genetics. Part A. 135: 91-5. PMID 15822126 DOI: 10.1002/Ajmg.A.30695 |
0.431 |
|
| 2004 |
Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF. A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). Journal of Medical Genetics. 41: 679-83. PMID 15342698 DOI: 10.1136/jmg.2004.019000 |
0.418 |
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| 2004 |
Clarke NF, Mowat D, Kooy RF, Reyniers E, Willemsen R. Fragile X syndrome phenotype with normal FMR1 gene studies. American Journal of Medical Genetics. Part A. 129: 326-8. PMID 15326639 DOI: 10.1002/Ajmg.A.30194 |
0.421 |
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| 2004 |
Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF. Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation. Annales De GéNÉTique. 47: 53-9. PMID 15050874 DOI: 10.1016/J.Anngen.2003.10.001 |
0.371 |
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| 2004 |
Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Kooy RF, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. American Journal of Human Genetics. 74: 777-780. PMID 15024694 DOI: 10.1086/383205 |
0.397 |
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| 2004 |
Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Ceulemans B, Van Den Ende J, Van Bever Y, Kooy RF. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Human Mutation. 23: 17-21. PMID 14695528 DOI: 10.1002/Humu.10300 |
0.391 |
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| 2003 |
Kooy RF. Of mice and the fragile X syndrome. Trends in Genetics : Tig. 19: 148-54. PMID 12615009 DOI: 10.1016/S0168-9525(03)00017-9 |
0.429 |
|
| 2003 |
Winnepenninckx B, Rooms L, Kooy RF. Mental Retardation: A Review of the Genetic Causes The British Journal of Development Disabilities. 49: 29-44. DOI: 10.1179/096979503799104138 |
0.329 |
|
| 2002 |
Winnepenninckx B, Errijgers V, Reyniers E, De Deyn PP, Abidi FE, Schwartz CE, Kooy RF. Family MRX9 revisited: further evidence for locus heterogeneity in MRX. American Journal of Medical Genetics. 112: 17-22. PMID 12239714 DOI: 10.1002/Ajmg.10663 |
0.385 |
|
| 2002 |
Gantois I, Kooy RF. Targeting fragile X. Genome Biology. 3: reviews1014. PMID 12049671 DOI: 10.1186/Gb-2002-3-5-Reviews1014 |
0.389 |
|
| 2001 |
Gantois I, Bakker CE, Reyniers E, Willemsen R, D'Hooge R, De Deyn PP, Oostra BA, Kooy RF. Restoring the phenotype of fragile X syndrome: insight from the mouse model. Current Molecular Medicine. 1: 447-55. PMID 11899089 DOI: 10.2174/1566524013363492 |
0.338 |
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| 2001 |
Winnepenninckx B, Reyniers E, Bossuyt P, Smits A, Wauters J, Kooy RF. Precise mapping of the fragile site FRA12A on chromosome 12q13.1 Genescreen. 1: 131-137. DOI: 10.1046/J.1466-9218.2001.00013.X |
0.445 |
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| 2000 |
Kooy RF, Willemsen R, Oostra BA. Fragile X syndrome at the turn of the century. Molecular Medicine Today. 6: 193-8. PMID 10782066 DOI: 10.1016/S1357-4310(00)01674-9 |
0.427 |
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| 2000 |
Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, ... Kooy RF, et al. Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). American Journal of Human Genetics. 66: 16-25. PMID 10631133 DOI: 10.1086/302703 |
0.444 |
|
| 1999 |
Reyniers E, Van Bogaert P, Peeters N, Vits L, Pauly F, Fransen E, Van Regemorter N, Kooy RF. A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. American Journal of Human Genetics. 65: 1406-12. PMID 10521307 DOI: 10.1086/302638 |
0.323 |
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| 1999 |
Kooy RF, Reyniers E, Verhoye M, Sijbers J, Bakker CE, Oostra BA, Willems PJ, Van Der Linden A. Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging. European Journal of Human Genetics : Ejhg. 7: 526-32. PMID 10439957 DOI: 10.1038/Sj.Ejhg.5200348 |
0.335 |
|
| 1999 |
Kooy RF, Reyniers E, Storm K, Vits L, van Velzen D, de Ruiter PE, Brinkmann AO, de Paepe A, Willems PJ. CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation. American Journal of Medical Genetics. 85: 209-13. PMID 10398229 DOI: 10.1002/(Sici)1096-8628(19990730)85:3<209::Aid-Ajmg4>3.0.Co;2-2 |
0.401 |
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| 1999 |
Reyniers E, Martin JJ, Cras P, Van Marck E, Handig I, Jorens HZ, Oostra BA, Kooy RF, Willems PJ. Postmortem examination of two fragile X brothers with an FMR1 full mutation. American Journal of Medical Genetics. 84: 245-9. PMID 10331601 DOI: 10.1002/(Sici)1096-8628(19990528)84:3<245::Aid-Ajmg16>3.0.Co;2-U |
0.452 |
|
| 1999 |
Holden JJ, Percy M, Allingham-Hawkins D, Brown WT, Chiurazzi P, Fisch G, Gane L, Gunter C, Hagerman R, Jenkins EC, Kooy RF, Lubs HA, Murray A, Neri G, Schwartz C, et al. Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997. American Journal of Medical Genetics. 83: 221-36. PMID 10208154 DOI: 10.1002/(Sici)1096-8628(19990402)83:4<221::Aid-Ajmg1>3.0.Co;2-K |
0.381 |
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| 1998 |
Fransen E, D'Hooge R, Van Camp G, Verhoye M, Sijbers J, Reyniers E, Soriano P, Kamiguchi H, Willemsen R, Koekkoek SK, De Zeeuw CI, De Deyn PP, Van der Linden A, Lemmon V, Kooy RF, et al. L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. Human Molecular Genetics. 7: 999-1009. PMID 9580664 DOI: 10.1093/Hmg/7.6.999 |
0.32 |
|
| 1996 |
Reyniers E, Wolff G, Tariverdian G, De Boulle K, Storm K, Kooy RF, Willems PJ. Severe mental retardation and macroorchidism without mutation in the FMR1 gene. American Journal of Medical Genetics. 64: 408-12. PMID 8844093 DOI: 10.1002/(Sici)1096-8628(19960809)64:2<408::Aid-Ajmg35>3.0.Co;2-H |
0.461 |
|
| 1996 |
Kooy RF, D'Hooge R, Reyniers E, Bakker CE, Nagels G, De Boulle K, Storm K, Clincke G, De Deyn PP, Oostra BA, Willems PJ. Transgenic mouse model for the fragile X syndrome. American Journal of Medical Genetics. 64: 241-5. PMID 8844056 DOI: 10.1002/(Sici)1096-8628(19960809)64:2<241::Aid-Ajmg1>3.0.Co;2-X |
0.373 |
|
| 1994 |
Kooy RF, Verlind E, Houwen RH, Shapiro DN, Hawthorn LA, Cowell JK, Scheffer H, Buys CH. A deletion hybrid breakpoint map of the chromosomal region 13q14-q21 orders 19 genetic markers in 10 intervals. European Journal of Human Genetics : Ejhg. 2: 59-65. PMID 7913868 DOI: 10.1159/000472342 |
0.327 |
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