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: 113



Christian R Marshall, Abdul Noor, John B Vincent, Anath C Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren, Bhooma Thiruvahindrapduram, Andreas Fiebig, Stefan Schreiber, Jan Friedman, Cees E J Ketelaars, Yvonne J Vos, Can Ficicioglu, Susan Kirkpatrick, Rob Nicolson, Leon Sloman, Anne Summers, Clare A Gibbons, Ahmad Teebi, David Chitayat, Rosanna Weksberg, Ann Thompson, Cathy Vardy, Vicki Crosbie, Sandra Luscombe, Rebecca Baatjes, Lonnie Zwaigenbaum, Wendy Roberts, Bridget Fernandez, Peter Szatmari, Stephen W Scherer. Am J Hum Genet 2008
Times Cited: 1192




List of shared articles



Times cited

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.
Ana Fernandez-Marmiesse, Sofia Gouveia, Maria L Couce. Curr Med Chem 2018
55

Copy number variations in Saudi family with intellectual disability and epilepsy.
Muhammad I Naseer, Adeel G Chaudhary, Mahmood Rasool, Gauthaman Kalamegam, Fai T Ashgan, Mourad Assidi, Farid Ahmed, Shakeel A Ansari, Syed Kashif Zaidi, Mohammed M Jan,[...]. BMC Genomics 2016
3

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

Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.
Muhammad Imran Naseer, Muhammad Faheem, Adeel G Chaudhary, Taha A Kumosani, Maha Mohsin Al-Quaiti, Mohammed M Jan, Hasan Saleh Jamal, Mohammad H Al-Qahtani. BMC Genomics 2015
7

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

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

De novo mutations in human genetic disease.
Joris A Veltman, Han G Brunner. Nat Rev Genet 2012
445


Rare variants in complex traits: novel identification strategies and the role of de novo mutations.
Loubna Jouan, Julie Gauthier, Patrick A Dion, Guy A Rouleau. Hum Hered 2012
4

The genetics of neurodevelopmental disease.
Kevin J Mitchell. Curr Opin Neurobiol 2011
102

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

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.
Liesbeth Rooms, Geert Vandeweyer, Edwin Reyniers, Kurt van Mol, Ilse de Canck, Nathalie Van der Aa, Rudi Rossau, R Frank Kooy. Am J Med Genet A 2011
10

Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects.
J Breckpot, B Thienpont, Y Arens, L C Tranchevent, J R Vermeesch, Y Moreau, M Gewillig, K Devriendt. Cytogenet Genome Res 2011
42

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
43

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Annabel C Whibley, Vincent Plagnol, Patrick S Tarpey, Fatima Abidi, Tod Fullston, Maja K Choma, Catherine A Boucher, Lorraine Shepherd, Lionel Willatt, Georgina Parkin,[...]. Am J Hum Genet 2010
84