A citation-based method for searching scientific literature

David A Koolen, Rolph Pfundt, Nicole de Leeuw, Jayne Y Hehir-Kwa, Willy M Nillesen, Ineke Neefs, Ine Scheltinga, Erik Sistermans, Dominique Smeets, Han G Brunner, Ad Geurts van Kessel, Joris A Veltman, Bert B A de Vries. Hum Mutat 2009
Times Cited: 112



Bert B A de Vries, Rolph Pfundt, Martijn Leisink, David A Koolen, Lisenka E L M Vissers, Irene M Janssen, Simon van Reijmersdal, Willy M Nillesen, Erik H L P G Huys, Nicole de Leeuw, Dominique Smeets, Erik A Sistermans, Ton Feuth, Conny M A van Ravenswaaij-Arts, Ad Geurts van Kessel, Eric F P M Schoenmakers, Han G Brunner, Joris A Veltman. Am J Hum Genet 2005
Times Cited: 418




List of shared articles



Times cited

Distal 22q11.2 Microduplication: Case Report and Review of the Literature.
Elana Pinchefsky, Laurence Laneuville, Myriam Srour. Child Neurol Open 2017
7

Exome sequencing and whole genome sequencing for the detection of copy number variation.
Jayne Y Hehir-Kwa, Rolph Pfundt, Joris A Veltman. Expert Rev Mol Diagn 2015
45

Clinical significance of de novo and inherited copy-number variation.
Anneke T Vulto-van Silfhout, Jayne Y Hehir-Kwa, Bregje W M van Bon, Janneke H M Schuurs-Hoeijmakers, Stephen Meader, Claudia J M Hellebrekers, Ilse J M Thoonen, Arjan P M de Brouwer, Han G Brunner, Caleb Webber,[...]. Hum Mutat 2013
77

Structural genomic variation in intellectual disability.
Rolph Pfundt, Joris A Veltman. Methods Mol Biol 2012
9

High resolution array in the clinical approach to chromosomal phenotypes.
Isabel Filges, Luzia Suda, Peter Weber, Alexandre N Datta, Dirk Fischer, Patricia Dill, Réné Glanzmann, Jörg Benzing, Lukas Hegi, Friedel Wenzel,[...]. Gene 2012
7

[Diagnostic investigations for an unexplained developmental disability].
A Verloes, D Héron, T Billette de Villemeur, A Afenjar, C Baumann, N Bahi-Buisson, P Charles, A Faudet, A Jacquette, C Mignot,[...]. Arch Pediatr 2012
6

Chromosome microarrays in human reproduction.
Evica Rajcan-Separovic. Hum Reprod Update 2012
15


Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
Shin Hayashi, Issei Imoto, Yoshinori Aizu, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Nana Okamoto, Shozo Honda, Satoshi Araki, Shuki Mizutani,[...]. J Hum Genet 2011
17

SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.
N de Leeuw, J Y Hehir-Kwa, A Simons, A Geurts van Kessel, D F Smeets, B H W Faas, R Pfundt. Cytogenet Genome Res 2011
31


Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.
Lisenka E L M Vissers, Bert B A de Vries, Joris A Veltman. J Med Genet 2010
106

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.
Bixia Xiang, Hongbo Zhu, Yiping Shen, David T Miller, Kangmo Lu, Xiaofeng Hu, Hans C Andersson, Tarachandra M Narumanchi, Yueying Wang, Jose E Martinez,[...]. J Mol Diagn 2010
56

Accurate distinction of pathogenic from benign CNVs in mental retardation.
Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman. PLoS Comput Biol 2010
42


Genetics of early onset cognitive impairment.
Hans Hilger Ropers. Annu Rev Genomics Hum Genet 2010
223