Researcher profile · Semantic Scholar

H. Yntema

h-index: 11
Works: 17
Citations: 799

Most-cited papers

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
T. Kleefstra, M. Smidt, M. J. Banning, A. R. Oudakker +11 more
2005Journal of Medical Genetics193 citations Open access
Semantic Scholar
Update on Kleefstra Syndrome
M. Willemsen, A. T. Vulto-van Silfhout, W. Nillesen, W. M. Wissink-Lindhout +22 more
2012Molecular Syndromology170 citations Open access
Semantic Scholar
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
P. Makrythanasis, B. V. van Bon, M. Steehouwer, B. Rodríguez-Santiago +54 more
2013Clinical Genetics105 citations Open access
Semantic Scholar
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
T. Kleefstra, H. Yntema, A. Oudakker, M. J. Banning +11 more
2004Journal of Medical Genetics75 citations Open access
Semantic Scholar
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia
T. Kleefstra, H. Yntema, A. Oudakker, T. Romein +5 more
2002Clinical Genetics61 citations
Semantic Scholar
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
J. Veltman, H. Yntema, D. Lugtenberg, H. Arts +8 more
2004Journal of Medical Genetics59 citations Open access
Semantic Scholar
Genotype‐phenotype studies in three families with mutations in the polyglutamine‐binding protein 1 gene (PQBP1)
T. Kleefstra, CE Franken, Yhjm Arens, G. Ramakers +7 more
2004Clinical Genetics40 citations
Semantic Scholar
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes
A. Houweling, Y. D. de Mooij, I. van der Burgt, H. Yntema +2 more
2010Prenatal Diagnosis30 citations
Semantic Scholar
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation
T. Bienvenu, K. Poirier, H. Van Esch, B. Hamel +6 more
2003Journal of Medical Genetics27 citations Open access
Semantic Scholar
Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients
E. A. Croonen, W. Nillesen, C. Schrander, M. Jongmans +5 more
2013Molecular Syndromology19 citations Open access
Semantic Scholar
Prevalence of fragile X syndrome in males and females in Indonesia (HASIL TURNITIN)
F. Mundhofir, T. Winarni, W. Nillesen, B. V. van Bon +5 more
201212 citations Open access
Semantic Scholar
Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study
M. Fehrmann, W. Huinck, M. E. G. Thijssen, L. Haer-Wigman +11 more
2023Journal of Otolaryngology - Head and Neck Surgery7 citations Open access
Semantic Scholar
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss
M. Fehrmann, L. Haer-Wigman, H. Kremer, H. Yntema +5 more
2025Journal of the Association for Research in Otolaryngology3 citations Open access
Semantic Scholar
TO JMG Z inc finger 81 ( ZNF 81 ) mutations associated with X-linked mental retardation
T. Kleefstra, H. Yntema, A. Oudakker, M. J. Banning +10 more
20041 citations
Semantic Scholar
A novel XLMR gene identified through array CGH
D. Lugtenberg, M. J. Banning, Astrid R. Oudakker, H. Firth +9 more
20050 citations
Semantic Scholar
Development and apllication of a full-coverage X-chromosomal BAC array for high-throughout screening of genomic alterations in patients with X-linked mental retardation
D. Lugtenberg, J. Veltman, K. Osoegawa, P. de Jong +10 more
20040 citations
Semantic Scholar
Search for mutations causing non-syndromic X-linked mental retardation (NS-XLMR) by high-throughput PCR based sequencing and mRNA expresssion profiling of candidate genes on prosimal Xp
L. Jensen, M. Amende, M. Rosenkranz, B. Moser +19 more
20040 citations
Semantic Scholar

C. Moraine

×6

J. Chelly×5

H. Ropers×5

M. J. Banning×4

W. Nillesen×4

E. Sistermans×3

H. Brunner×3

W. Nillesen×3