Jacques C. Giltay - Concepedia

Author

Jacques C. Giltay

Also Known As

Federico Tessadori, Giltay, Jacques, Giltay, Jacques C., J C Giltay, J Giltay, J. C. Giltay, J. Giltay, J.C. Giltay, JACQUES C. GILTAY, Jacques C Giltay

110

Publications

3.6K

Citations

H-Index

Concepts

All Affiliations

University Medical Center Utrecht Utrecht University Radboud University Nijmegen University Medical Center Groningen Radboud University Medical Center

About

Jacques C. Giltay is an author at University Medical Center Utrecht specializing in medicine, genetics, and public health.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	26	1.8K
2	Public Health	10	10	635
3	Social Sciences	2	2	53
4	Engineering	1	1	18
5	Natural Sciences	1	1	46

Jacques C. Giltay

Publications

Citations

H-Index

Page 1

	Year	Citations
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
The genetic basis of DOORS syndrome: an exome-sequencing study Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, The Lancet Neurology	2013	227
Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux Albertien M. van Eerde, Xueping Fan, Fabiola Quintero‐Rivera, The American Journal of Human Genetics Urinary Tract AnomaliesUrological ResearchUrologyVoiding DysfunctionMedicine	2007	213
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations Joris M. van Montfrans, Esther A R Hartman, Kees P. J. Braun, Lara D. Veeken	2016	144
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome Deniz Kanber, Jacques C. Giltay, Dagmar Wieczorek, European Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsClinical GeneticsGenetic Epidemiology	2008	134
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT Nayia Nicolaou, Sara L. Pulit, Isaäc J. Nijman, Kidney International BiologyCandidate GenesBurden AnalysisAllelic VariantRare Variants	2015	111
Reproductive decisions of men with microdeletions of the Y chromosome: the role of genetic counselling Annemiek Nap, Ron J.T. Van Golde, J.H.A.M. Tuerlings, Human Reproduction Counselling ProcessFamily MedicineFertilityGeneticsReproductive Health	1999	107
Sperm analysis in a subfertile male with a Y;16 translocation, using four-color FISH Jacques C. Giltay, P.M.M. Kastrop, C.H.J. Tiemessen, Cytogenetic and Genome Research FertilityGeneticsReproductive HealthSemen AnalysisReproductive Biology	1999	105
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability Anke P. Willems, Mehmet Gundogdu, Marlies Kempers, Journal of Biological Chemistry Somatic VariantMendelian DisorderGenetic DisorderGeneticsFragile X Spectrum	2017	104
Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample Marco P. Boks, Marjolein H.T. de Vette, Iris E. Sommer, Schizophrenia Research Klinefelter SamplePsychiatryCytogeneticsGenetic DisorderBiological Psychiatry	2007	91

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