Frank Kooy

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Rudi D'HoogeFull professor, Biological Psychology, KU Leuven; visiting professor, VU BrusselsVerified email at kuleuven.be
Charlotte D'HulstOlfactory Neuroscientist / Biotechnology EntrepreneurVerified email at genectr.hunter.cuny.edu
Debby Van DamAssociated Professor at the University of Antwerp; Belgium and UMCG, The NetherlandsVerified email at uantwerpen.be
Céline HelsmoortelDepartment of Medical Genetics, University of Antwerp, Antwerp, BelgiumVerified email at uantwerpen.be
Lisenka VissersProfessor of Translational Genomics 🧬Verified email at radboudumc.nl
Charles SchwartzDirector of Research, Greenwood Genetic CenterVerified email at ggc.org
Corrado RomanoAssociate Professor of Medical Genetics, University of CataniaVerified email at oasi.en.it
Illana GozesProfessor Emerita, Former Lily & Avraham Gildor Chair, Head, Elton Lab. Molecular NeuroendocrinologyVerified email at tauex.tau.ac.il
Patrick CrasUniversity of AntwerpVerified email at uza.be
Annemie Van der LindenUniversity of AntwerpVerified email at uantwerpen.be
David R FitzPatrickProfessor & Consultant in Paediatric Genetics, MRC Human Genetics Unit, University of EdinburghVerified email at nhs.net
Marleen VerhoyeBio-Imaging Lab, University of AntwerpVerified email at uantwerpen.be
geert mortierUniversiteit AntwerpenVerified email at telenet.be
jean louis mandelprof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHUVerified email at igbmc.fr
Jozef GeczThe University of AdelaideVerified email at adelaide.edu.au
William Ted BrownInstitute for Basic ResearchVerified email at sydney.edu.au
Joris VeltmanBiosciences Institute, Newcastle University, United KingdomVerified email at newcastle.ac.uk
Jan SijbersFull professor, University of AntwerpVerified email at uantwerpen.be
Stephanie L. ShermanProfessor of Human Genetics, Emory University School of MedicineVerified email at emory.edu
Bassem HassanScientific Director and Team Leader, Paris Brain InstituteVerified email at icm-institute.org

Frank Kooy

Professor in Cognitive Genetics

Verified email at uantwerpen.be - Homepage

Genetics of Intellectual disabitilty autism and related cognitive disorders


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The Collaborative Cross, a community resource for the genetic analysis of complex traits Nature genetics 36 (11), 1133-1137, 2004	1082	2004
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile‐X syndrome: a quantitative examination SA Irwin, B Patel, M Idupulapati, JB Harris, RA Crisostomo, BP Larsen, ... American journal of medical genetics 98 (2), 161-167, 2001	850	2001
A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2 RG Walters, S Jacquemont, A Valsesia, AJ De Smith, D Martinet, ... Nature 463 (7281), 671-675, 2010	556	2010
Fragile X syndrome RJ Hagerman, E Berry-Kravis, HC Hazlett, DB Bailey, H Moine, RF Kooy, ... Nature reviews Disease primers 3 (1), 1-19, 2017	494	2017
A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism DA Koolen, LELM Vissers, R Pfundt, N De Leeuw, SJL Knight, R Regan, ... Nature genetics 38 (9), 999-1001, 2006	494	2006
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ... Nature 478 (7367), 97-102, 2011	490	2011
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles SL Nolin, WT Brown, A Glicksman, GE Houck Jr, AD Gargano, A Sullivan, ... The American Journal of Human Genetics 72 (2), 454-464, 2003	439	2003
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017	425	2017
Decreased expression of the GABAA receptor in fragile X syndrome C d'Hulst, N De Geest, SP Reeve, D Van Dam, PP De Deyn, BA Hassan, ... Brain research 1121 (1), 238-245, 2006	334	2006
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ... Journal of medical genetics 46 (8), 511-523, 2009	292	2009
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP C Helsmoortel, AT Vulto-van Silfhout, BP Coe, G Vandeweyer, L Rooms, ... Nature genetics 46 (4), 380-384, 2014	290	2014
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns E Fransen, R d'Hooge, G Van Camp, M Verhoye, J Sijbers, E Reyniers, ... Human molecular genetics 7 (6), 999-1009, 1998	284	1998
A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders F Zufferey, EH Sherr, ND Beckmann, E Hanson, AM Maillard, L Hippolyte, ... Journal of medical genetics 49 (10), 660-668, 2012	275	2012
The GABAA receptor as a therapeutic target for neurodevelopmental disorders S Braat, RF Kooy Neuron 86 (5), 1119-1130, 2015	258	2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015	232	2015
Mildly impaired water maze performance in maleFmr1 knockout mice R D'Hooge, G Nagels, F Franck, CE Bakker, E Reyniers, K Storm, ... Neuroscience 76 (2), 367-376, 1997	228	1997
Transgenic mouse model for the fragile X syndrome RF Kooy, R D'Hooge, E Reyniers, CE Bakker, G Nagels, K De Boulle, ... American journal of medical genetics 64 (2), 241-245, 1996	223	1996
The complexity of the GABAA receptor shapes unique pharmacological profiles C D’Hulst, JR Atack, RF Kooy Drug discovery today 14 (17-18), 866-875, 2009	213	2009
Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome N Van der Aa, L Rooms, G Vandeweyer, J van den Ende, E Reyniers, ... European journal of medical genetics 52 (2-3), 94-100, 2009	212	2009
Long‐term potentiation in the hippocampus of fragile X knockout mice JM Godfraind, E Reyniers, K De Boulle, R D'hooge, PP De Deyn, ... American journal of medical genetics 64 (2), 246-251, 1996	203	1996

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