R. Frank Kooy - Publications#

SCI: h index 52, 10.438 citations
Google scholar: h index 60, 15225 citations

10 selected publications from over 200 in total:

1. Braat S, Kooy RF, 2015, The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders. Neuron. 86(5):1119-1130

In this work we argue that the GABA(A) receptor is an attractive target for a wide range of neurodevelopmental disorders, widening therapeutic options.

2. Helsmoortel C, Vulto-van Siflhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JHM, Marcelis CM, Willemsen MH, Vissers LELM, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BBA, Kleefstra T, Kooy RF*, Eichler EE, Van der Aa N*, 2014, A SWI/SNF related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 46:380-384 *corresponding authors

In this work we define the genetic cause of the Helsmoortel - Van der Aa syndrome, now known as one of the more frequent forms of syndromic autism.

3. Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Reddy Chilamakuri CS, Morrison H, Vandeweyer G, Reyniers E, Douglas E, Thompson G, Haan E, Gecz J, FitzPatrick DR, Kooy RF, 2014, FRA2A is a CGG repeat expansion associated with silencing of AFF3. PLOS Genet. 2014; 10:e1004242

Here we define the molecular basis of a FRA2A, a rare fragile site. We demonstrate its association with disease and provide mechanistical insigths.

4. 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, ADNP consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF (2018)., Clinical presentation of a complex neurological disorder caused by mutations in ADNP. Biol Psychiatry, 85:287-297.

In this work we define the clinical presentation of the Helsmoortel - Van der Aa syndrome in great detail.

5. Annear, D. J., Vandeweyer, G., Elinck, E., Sanchis-Juan, A., French, C. E., Raymond, L., & Kooy, R. F. (2021). Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease. Sci Rep, 11(1), 2515. doi: 10.1038/s41598-021-82050-5

In this work, we are the first to make a realistic estimate how many CGG repeats there are in our genome. Of all recent papers, this is the work that receive the most attention.

6. Annear, D. J., Vandeweyer, G., Sanchis-Juan, A., Raymond, F. L., & Kooy, R. F. (2022). Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism. Genome Res, 32(11-12), 1967-1980.

This paper is the sequel of the Scientific Reports paper. It shows association of CGG repeat instability with autism and demonstrates as yet uneplained non-mendelian inheritance.

7. D'Hulst, C., Heulens, I., Van der Aa, N., Goffin, K., Koole, M., Porke, K., . . . Kooy, R. F. (2015). Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. PLoS One, 10(7), e0131486. doi: 10.1371/journal.pone.0131486

This work shows underexpression of the GABA(A) receptor directly in fragile X patients

8. Willemsen, R., & Kooy, R. F. (Eds.). (2017). Fragile X Syndrome: From Genetics to Targeted Treatment (First ed.). London San Diego Cambridge Oxford: Academic Press.

Authorative book an all aspects of the fragile X syndrome.

9. Willemsen, R., & Kooy, R. F. (2023). Mouse models of fragile X-related disorders. Dis Model Mech, 16(2). doi: 10.1242/dmm.049485

Most recent review on all murine fragile X models, their advantages and disadvantages.

10. Ligsay, A., Van Dijck, A., Nguyen, D. V., Lozano, R., Chen, Y., Bickel, E. S., Kooy, R.F., Hagerman, R. J. (2017). A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome. J Neurodev Disord, 9(1), 26. doi: 10.1186/s11689-017-9207-8

Clinical trial in the fragile X syndrome using a GABA agonist.