R. Frank Kooy - Concepedia

Author

R. Frank Kooy

Also Known As

Bart Elffers, F Kooy, F. Kooy, Frank Kooy, Frank Kooy, R, Frank R. Kooy, Frank Van der Kooy, Frank van der Kooy, Heinz Himmelbauer, KOOY, RF

379

Publications

16.8K

Citations

H-Index

163

Concepts

All Affiliations

University of Antwerp Antwerp University Hospital Radboud University Nijmegen Radboud University Medical Center KU Leuven

About

R. Frank Kooy is an author at University of Antwerp specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	42	65	7.3K
2	Engineering	4	4	119
3	Health Sciences	3	3	130
4	Natural Sciences	3	3	283
5	Education	2	2	110

R. Frank Kooy

116

Publications

11.1K

Citations

H-Index

Page 1

	Year	Citations
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination Scott A. Irwin, Biraju Patel, Madhuri Idupulapati, American Journal of Medical Genetics	2001	753
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Nature Genetics Neurodevelopmental DisordersSyndromic AutismGeneticsPsychiatric GeneticsAutism	2017	558
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Robin Walters, Sébastien Jacquemont, Armand Valsesia, Nature ObesityMetabolic SyndromeChildhood ObesityDevelopmental BiologyMetabolic Disorder	2010	554
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Nature Gene DosageGeneticsHuman PolymorphismMolecular GeneticsChromosome 16P11.2	2011	474
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt, Nature Genetics Genetic DisorderGeneticsCommon Inversion PolymorphismHuman PolymorphismPathology	2006	466
Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles Sarah L. Nolin, W. Ted Brown, Anne Glicksman, The American Journal of Human Genetics Allelic VariantGenetic DisorderGeneticsFragile X SpectrumGynecology	2003	418
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Nature Genetics Neurodevelopmental DisordersSyndromic AutismGenetic DisorderGeneticsPsychiatric Genetics	2014	369
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling Lot Snijders Blok, Erik Madsen, Jane Juusola, The American Journal of Human Genetics Unexplained Intellectual DisabilityGender-specific EffectsMendelian DisorderGenetic DisorderGenetics	2015	324
Decreased expression of the GABAA receptor in fragile X syndrome Charlotte D’Hulst, Natalie De Geest, Simon Reeve, Brain Research Molecular NeuroscienceGeneticsFragile X SpectrumGabaa ReceptorNeuroscience	2006	312
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Genetics in Medicine	2018	218

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