Jacques C. Giltay

3.7k citations

65 papers · 1.3k indexed · h-index 23

Reproductive Medicine top 5%
- Sperm and Testicular Function 6
Genetics top 2%
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 22
- Genomic variations and chromosomal abnormalities 12
- Genetics and Neurodevelopmental Disorders 7
Pediatrics, Perinatology and Child Health top 5%
- Prenatal Screening and Diagnostics 10
Urology top 5%
- Urological Disorders and Treatments 7
Molecular Biology
- Sexual Differentiation and Disorders 14
Plant Science
- Chromosomal and Genetic Variations 9

Co-authors: Ron Hochstenbach P.M.M. Kastrop Sjoerd Repping Jan A. van Mourik Tom P.V.M. de Jong Hanna Swaab Cisca Wijmenga Sophie van Rijn
Cited by: Reproductive Medicine Genetics Pediatrics, Perinatology and Child Health
Journals: Journal of Biological Chemistry (1 paper)Nature Genetics (1 paper)PLoS ONE (1 paper)
Partner nations: Netherlands Germany United States

In The Last Decade

Jacques C. Giltay

64 papers receiving 1.3k citations

Peers

Countries citing papers authored by Jacques C. Giltay

Since Specialization

Citations

This map shows the geographic impact of Jacques C. Giltay's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Jacques C. Giltay with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Jacques C. Giltay more than expected).

Fields of papers citing papers by Jacques C. Giltay

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Jacques C. Giltay. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Jacques C. Giltay. The network helps show where Jacques C. Giltay may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Jacques C. Giltay, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Jacques C. Giltay Line = papers co-authored together Jacques C. Giltay links everyone, so they are left out of the graph.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work
1	Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype American Journal of Medical Genetics Part A ·Babeth van Ommeren,Maud Hoekstra,Koen L.I. van Gassen,Richard van Jaarsveld,Gijs van Haaften,Irene M. J. Mathijssen,Rúben Dammers,Marie‐Lise C. van Veelen,Rolanda Baars,Jacques C. Giltay	2024	2
2	A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder European Journal of Human Genetics ·Federico Tessadori,Atteeq U. Rehman,Jacques C. Giltay,Fan Xia,Haley Streff,Karen Duran,Jeroen Bakkers,Seema R. Lalani,Gijs van Haaften	2019	11
3	Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability Journal of Biological Chemistry ·Anke P. Willems,Mehmet Gundogdu,Marlies Kempers,Jacques C. Giltay,Rolph Pfundt,Martin Elferink,Bettina Loza,Joris Fuijkschot,Andrew T. Ferenbach,Koen L.I. van Gassen,Daan M. F. van Aalten,Dirk J. Lefeber	2017	66
4	Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control Nature Genetics ·(unknown),Federico Tessadori,Jacques C. Giltay,Jane A. Hurst,Maarten P.G. Massink,Karen Duran,Harmjan R. Vos,Robert M. van Es,Richard H. Scott,Koen L.I. van Gassen,Jeroen Bakkers,Gijs van Haaften	2017	34
5	Further confirmation of the MED13L haploinsufficiency syndrome European Journal of Human Genetics ·Mieke M. van Haelst,Glen R. Monroe,Karen Duran,Ellen van Binsbergen,Johannes M. P. J. Breur,Jacques C. Giltay,Gijs van Haaften	2014	31
6	The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family Human Mutation ·Yvonne Hilhorst‐Hofstee,M Rijlaarsdam,Arthur J. Scholte,M. Swart-Van Den Berg,Michel I.M. Versteegh,Iris van der Schoot-van Velzen,Hans-Joachim Schäbitz,Emilia K. Bijlsma,Marieke J.H. Baars,Wilhelmina S. Kerstjens‐Frederikse,Jacques C. Giltay,Ben C.J. Hamel,Martijn H. Breuning,Gerard Pals	2010	20
7	Klinefelter syndrome: clinical and molecular aspects Expert Review of Molecular Diagnostics ·Jacques C. Giltay,Merel Maiburg	2010	32
8	Does the genetic and familial background of males undertaking ICSI affect the outcome? Journal of Assisted Reproduction and Genetics ·Merel Maiburg,Behrooz Z. Alizadeh,P.M.M. Kastrop,M.T.W.T. Lock,Sjors PA van der Lans,Jacques C. Giltay	2009	1
9	Vesico‐ureteral reflux in children with prenatally detected hydronephrosis: a systematic review Ultrasound in Obstetrics and Gynecology ·Albertien M. van Eerde,M. H. Meutgeert,Tom P.V.M. de Jong,Jacques C. Giltay	2007	25
10	Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample Schizophrenia Research ·Marco P. Boks,Marjolein H.T. de Vette,Iris E. Sommer,Sophie van Rijn,Jacques C. Giltay,Hanna Swaab,René S. Kahn	2007	71
11	Kinetics of meiosis in azoospermic males: a joint histological and cytological approach Cytogenetic and Genome Research ·P. de Boer,Maud Giele,M.T.W.T. Lock,Dirk G. de Rooij,Jacques C. Giltay,Ron Hochstenbach,Egbert R. te Velde	2004	10
12	Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism American Journal of Medical Genetics Part A ·Pauline Terhal,Ralph J. B. Sakkers,Ron Hochstenbach,K. Madan,Gwenda M. Rabelink,Richard J. Sinke,Jacques C. Giltay	2004	13
13	Analysis of Spermatozoa from Seven ICSI Males with Constitutional Sex Chromosomal Abnormalities by Fluorescent In Situ Hybridization Journal of Assisted Reproduction and Genetics ·Jacques C. Giltay,Ron J T van Golde,P.M.M. Kastrop	2000	15
14	Reproductive decisions of men with microdeletions of the Y chromosome: the role of genetic counselling Human Reproduction ·Annemiek Nap,Ron J.T. Van Golde,J.H.A.M. Tuerlings,Paul De Sutter,M.H.E.C. Pieters,Jacques C. Giltay,P.M.M. Kastrop,D.D.M. Braat,Jan A.M. Kremer	1999	42
15	Sperm analysis in a subfertile male with a Y;16 translocation, using four-color FISH Cytogenetic and Genome Research ·Jacques C. Giltay,P.M.M. Kastrop,C.H.J. Tiemessen,Wouter G. van Inzen,J. M. J. C. Scheres,P. Pearson	1999	45
16	Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite The American Journal of Human Genetics ·Jacques C. Giltay,Tibor M. Brunt,Frits A. Beemer,Jan-Maarten Wit,Hans Kristian Ploos van Amstel,P. Pearson,Cisca Wijmenga	1998	56
17	VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2) Clinical Genetics ·Jacques C. Giltay,Jan A Bokma,Henny de France,Frits A. Beemer	1998	1
18	The phenylketonuria G272X haplotype 7 mutation in European populations Human Genetics ·Jaran Apold,Hans Geir Eiken,Elisabeth Svensson,E. Kunert,Libor Kozák,Petr Cechak,F. G�ttler,Jacques C. Giltay,Uta Lichter‐Konecki,Dominique Melle,JadwigaMaria Jaruzelska	1993	7
19	Distinct molecular origins for Denys-Drash and Frasier syndromes Human Genetics ·Françis Poulat,Didier Morin,Arne K�nig,P. Brun,Jacques C. Giltay,C. Sultan,Robert Dumas,Manfred Gessler,Philippe Berta	1993	22
20	The platelet glycoprotein Ia‐IIa‐associated Br‐alloantigen system is expressed by cultured endothelial cells British Journal of Haematology ·Jacques C. Giltay,Herm Jan M. Brinkman,A. B. J. Vlekke,V. Kiefel,Jan A. van Mourik,A. E. G. Kr. Borne	1990	22

About Jacques C. Giltay

Jacques C. Giltay is a scholar working on Genetics, Urology and Reproductive Medicine, having authored 65 papers that have together received 1.3k indexed citations. Recurring topics across this work include Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (22 papers), Sexual Differentiation and Disorders (14 papers), Genomic variations and chromosomal abnormalities (12 papers), Prenatal Screening and Diagnostics (10 papers), Chromosomal and Genetic Variations (9 papers), Genetics and Neurodevelopmental Disorders (7 papers), Urological Disorders and Treatments (7 papers) and Sperm and Testicular Function (6 papers). The work is most often cited by research in Reproductive Medicine (249 citations), Genetics (760 citations) and Pediatrics, Perinatology and Child Health (306 citations). Jacques C. Giltay has collaborated with scholars based in Netherlands, Germany and United States. Frequent co-authors include Ron Hochstenbach, P.M.M. Kastrop, Sjoerd Repping, Jan A. van Mourik, Tom P.V.M. de Jong, Hanna Swaab, Cisca Wijmenga, Sophie van Rijn, Karen Duran and Richard J. Sinke. Their work appears in journals such as Journal of Biological Chemistry, Nature Genetics and PLoS ONE.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

Explore authors with similar magnitude of impact