A citation-based method for searching scientific literature

Ron Hochstenbach, Ellen van Binsbergen, John Engelen, Aggie Nieuwint, Abeltje Polstra, Pino Poddighe, Claudia Ruivenkamp, Birgit Sikkema-Raddatz, Dominique Smeets, Martin Poot. Eur J Med Genet 2009
Times Cited: 126



Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck, Richard Leach, Robert Klein, Rick Tearle, Tan Bo, Rolph Pfundt, Helger G Yntema, Bert B A de Vries, Tjitske Kleefstra, Han G Brunner, Lisenka E L M Vissers, Joris A Veltman. Nature 2014
Times Cited: 632




List of shared articles



Times cited

An efficient genetic test flow for multiple congenital anomalies and intellectual disability.
Takayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki, Noriaki Harada, Toshiyuki Saito, Jun-Ichi Nagai, Takuya Naruto, Kenji Kurosawa. Pediatr Int 2020
0

Challenges in molecular diagnosis of X-linked Intellectual disability.
Chiara De Luca, ValĂ©rie Race, Liesbeth Keldermans, Marijke Bauters, Hilde Van Esch. Br Med Bull 2020
3

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.
Ron Hochstenbach, Ellen van Binsbergen, Heleen Schuring-Blom, Arjan Buijs, Hans Kristian Ploos van Amstel. Eur J Med Genet 2019
5

Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.
Se Hee Kim, Borahm Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang. Pediatr Neurol 2019
6

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.
Clark R Murray, Samantha N Abel, Matthew B McClure, Joseph Foster, Maria I Walke, Parul Jayakar, Guney Bademci, Mustafa Tekin. J Pediatr Genet 2017
18

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg,[...]. Genet Med 2017
75

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.
Nicolas Chatron, Lucie Thibault, James Lespinasse, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Patrick Edery, Renaud Touraine, Vincent des Portes, Gaetan Lesca,[...]. Mol Syndromol 2017
2

Genetic Approach to Diagnosis of Intellectual Disability.
Ratna Dua Puri, Moni Tuteja, I C Verma. Indian J Pediatr 2016
7