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Arie van Haeringen
Arie van Haeringen
clinical geneticist, Leiden University Medical Center
Verified email at lumc.nl
Title
Cited by
Cited by
Year
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
J Celli, P Duijf, BCJ Hamel, M Bamshad, B Kramer, APT Smits, ...
Cell 99 (2), 143-153, 1999
8561999
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515, 2017
5172017
Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
JA McGrath, PHG Duijf, V Doetsch, AD Irvine, R Waal, KRJ Vanmolkot, ...
Human molecular genetics 10 (3), 221-230, 2001
4582001
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ...
Nature genetics 44 (4), 379, 2012
3942012
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
JG Dauwerse, J Dixon, S Seland, CAL Ruivenkamp, A van Haeringen, ...
Nature genetics 43 (1), 20, 2011
3912011
Germline deletion of the miR-17∼ 92 cluster causes skeletal and growth defects in humans
L de Pontual, E Yao, P Callier, L Faivre, V Drouin, S Cariou, ...
Nature genetics 43 (10), 1026, 2011
3592011
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to the Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region …
I Stec, TJ Wright, CJB van Ommen, PAJ de Boer, A van Haeringen, ...
HUMAN MOLECULAR GENETICS 7 (9), 1527-1528, 1998
3521998
WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome …
I Stec, TJ Wright, GJB van Ommen, PAJ de Boer, A van Haeringen, ...
Human molecular genetics 7 (7), 1071-1082, 1998
3491998
Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals
EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A Van Haeringen, ...
European journal of medical genetics 52 (2), 77-87, 2009
3072009
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents
C Rosenberg, J Knijnenburg, E Bakker, AM Vianna-Morgante, W Sloos, ...
Journal of medical genetics 43 (2), 180-186, 2006
2662006
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms
WP Kloosterman, M Tavakoli-Yaraki, MJ van Roosmalen, ...
Cell reports 1 (6), 648-655, 2012
2302012
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid
K Laue, HM Pogoda, PB Daniel, A van Haeringen, Y Alanay, S von Ameln, ...
The American Journal of Human Genetics 89 (5), 595-606, 2011
1882011
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience
ZA Bhuiyan, M Klein, P Hammond, A van Haeringen, MMAM Mannens, ...
Journal of medical genetics 43 (7), 568-575, 2006
1782006
MLL2 mutation spectrum in 45 patients with Kabuki syndrome
ADC Paulussen, A Stegmann, MJ Blok, D Tserpelis, C Posma‐Velter, ...
Human mutation 32 (2), 2011
1562011
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome
V Malan, D Rajan, S Thomas, AC Shaw, HL dit Picard, V Layet, M Till, ...
The American Journal of Human Genetics 87 (2), 189-198, 2010
1472010
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ...
The American Journal of Human Genetics 101 (5), 768-788, 2017
1452017
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
F Petrij, HG Dauwerse, RI Blough, RH Giles, JJ van der Smagt, ...
Journal of medical genetics 37 (3), 168-176, 2000
1422000
YY1 Haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ...
The American Journal of Human Genetics 100 (6), 907-925, 2017
1362017
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ...
Biological psychiatry, 2018
1302018
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
F Béna, DL Bruno, M Eriksson, C van Ravenswaaij‐Arts, Z Stark, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013
1302013
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