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



Dominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, Bert B A de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Riess, Ozge Altug-Teber, Herbert Enders, Sylke Singer, Ute Grasshoff, Michael Walter, Judith M Walker, Catherine V Lamb, E Val Davison, Louise Brueton, Olaf Riess, Joris A Veltman. Hum Mutat 2009
Times Cited: 48




List of shared articles



Times cited

Detection and interpretation of genomic structural variation in health and disease.
Geert Vandeweyer, R Frank Kooy. Expert Rev Mol Diagn 2013
9

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Pasquale Striano, Antonietta Coppola, Roberta Paravidino, Michela Malacarne, Stefania Gimelli, Angela Robbiano, Monica Traverso, Marianna Pezzella, Vincenzo Belcastro, Amedeo Bianchi,[...]. Arch Neurol 2012
46

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

[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

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.
Marjolein H Willemsen, Nicole de Leeuw, Arjan P M de Brouwer, Rolph Pfundt, Jayne Y Hehir-Kwa, Helger G Yntema, Willy M Nillesen, Bert B A de Vries, Hans van Bokhoven, Tjitske Kleefstra. Eur J Med Genet 2012
13

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

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.
Katrin Männik, Sven Parkel, Priit Palta, Olga Zilina, Helen Puusepp, Tõnu Esko, Reedik Mägi, Margit Nõukas, Andres Veidenberg, Mari Nelis,[...]. Eur J Med Genet 2011
6

CNV-WebStore: online CNV analysis, storage and interpretation.
Geert Vandeweyer, Edwin Reyniers, Wim Wuyts, Liesbeth Rooms, R Frank Kooy. BMC Bioinformatics 2011
50

Microarray-based genomic profiling as a diagnostic tool in acute lymphoblastic leukemia.
Annet Simons, Marian Stevens-Kroef, Najat El Idrissi-Zaynoun, Sabine van Gessel, Daniel Olde Weghuis, Eva van den Berg, Esmé Waanders, Peter Hoogerbrugge, Roland Kuiper, Ad Geurts van Kessel. Genes Chromosomes Cancer 2011
18

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

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.
Jayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, Nicole de Leeuw, Rolph Pfundt, Jan K Buitelaar, Luis A Pérez-Jurado, Joris A Veltman. J Med Genet 2011
75

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

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