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



Gurdeep S Sagoo, Adam S Butterworth, Simon Sanderson, Charles Shaw-Smith, Julian P T Higgins, Hilary Burton. Genet Med 2009
Times Cited: 149




List of shared articles



Times cited

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.
Lucía Daniela Espeche, Andrea Paula Solari, María Ángeles Mori, Rubén Martín Arenas, María Palomares, Myriam Pérez, Cinthia Martínez, Vanesa Lotersztein, Mabel Segovia, Romina Armando,[...]. Mol Biol Rep 2020
0

Copy number variation analysis of patients with intellectual disability from North-West Spain.
Inés Quintela, Jesús Eirís, Carmen Gómez-Lado, Laura Pérez-Gay, David Dacruz, Raquel Cruz, Manuel Castro-Gago, Luz Míguez, Ángel Carracedo, Francisco Barros. Gene 2017
11

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

Array-comparative genomic hybridization analysis of a cohort of Saudi patients with epilepsy.
Muhammad Faheem, Muhammad I Naseer, Adeel G Chaudhary, Taha A Kumosani, Mahmood Rasool, Hussein A Algahtani, Fehmida Bibi, Mohammad A Kamal, Mohammad H Al-Qahtani. CNS Neurol Disord Drug Targets 2015
6

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

Chromosomal aberrations in cerebral visual impairment.
Daniëlle G M Bosch, F Nienke Boonstra, Margot R F Reijnders, Rolph Pfundt, Frans P M Cremers, Bert B A de Vries. Eur J Paediatr Neurol 2014
12

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).
Ying Qiao, Eloi Mercier, Jila Dastan, Jane Hurlburt, Barbara McGillivray, Albert E Chudley, Sandra Farrell, Francois P Bernier, Me Suzanne Lewis, Paul Pavlidis,[...]. BMC Med Genet 2014
9

De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features.
Konstantinos Varvagiannis, Ioannis Papoulidis, Theodora Koromila, Konstantinos Kefalas, Monika Ziegler, Thomas Liehr, Michael B Petersen, Yolanda Gyftodimou, Emmanouil Manolakos. Meta Gene 2014
4

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability.
Laia Rodríguez-Revenga, Elena Vallespín, Irene Madrigal, María Palomares, Antonio Mur, Sixto García-Miñaur, Fernando Santos, M Ángeles Mori, Pablo Lapunzina, Montserrat Mila,[...]. Gene 2013
13

Pathogenic or not? Assessing the clinical relevance of copy number variants.
J Y Hehir-Kwa, R Pfundt, J A Veltman, N de Leeuw. Clin Genet 2013
36

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

[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

Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.
Elizabeth C Galizia, Maithili Srikantha, Rodger Palmer, Jonathan J Waters, Nicholas Lench, Caroline Mackie Ogilvie, Dalia Kasperavičiūtė, Lina Nashef, Sanjay M Sisodiya. Eur J Med Genet 2012
17

High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability.
Xiaohong Gong, Yu-Wu Jiang, Xin Zhang, Yu An, Jun Zhang, Ye Wu, Jingmin Wang, Yangfei Sun, Yanyan Liu, Xuewu Gao,[...]. PLoS One 2012
32

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

Array technology in prenatal diagnosis.
Orsetta Zuffardi, Annalisa Vetro, Paul Brady, Joris Vermeesch. Semin Fetal Neonatal Med 2011
19