Frank Kooy
Frank Kooy
Professor in Cognitive Genetics
Email confirmado em - Página inicial
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The Collaborative Cross, a community resource for the genetic analysis of complex traits
GA Churchill, DC Airey, H Allayee, JM Angel, AD Attie, J Beatty, ...
Nature genetics 36 (11), 1133, 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
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
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
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
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
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
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
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
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
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
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
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
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
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
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
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
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
The GABAA receptor as a therapeutic target for neurodevelopmental disorders
S Braat, RF Kooy
Neuron 86 (5), 1119-1130, 2015
The GABAA receptor: a novel target for treatment of fragile X?
C D’Hulst, RF Kooy
Trends in neurosciences 30 (8), 425-431, 2007
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