A citation-based method for searching scientific literature

Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers, Janneke H Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L Carvill, Deana Li, David Amaral, Natasha Brown, Paul J Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R F Reijnders, Beth S Torchia, Hilde Peeters, Brian J O'Roak, Marco Fichera, Jayne Y Hehir-Kwa, Jay Shendure, Heather C Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler. Nat Genet 2014
Times Cited: 313



Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato, Andreas Dufke, Kirsten Cremer, Maja Hempel, Denise Horn, Juliane Hoyer, Pascal Joset, Albrecht Röpke, Ute Moog, Angelika Riess, Christian T Thiel, Andreas Tzschach, Antje Wiesener, Eva Wohlleber, Christiane Zweier, Arif B Ekici, Alexander M Zink, Andreas Rump, Christa Meisinger, Harald Grallert, Heinrich Sticht, Annette Schenck, Hartmut Engels, Gudrun Rappold, Evelin Schröck, Peter Wieacker, Olaf Riess, Thomas Meitinger, André Reis, Tim M Strom. Lancet 2012
Times Cited: 648




List of shared articles



Times cited

Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
E Z Taşkıran, B Karaosmanoğlu, C Koşukcu, G Ürel-Demir, Ö Akgün-Doğan, P Ö Şimşek-Kiper, M Alikaşifoğlu, K Boduroğlu, G E Utine. J Intellect Disabil Res 2021
0

Clinical delineation of SETBP1 haploinsufficiency disorder.
Nadieh A Jansen, Ruth O Braden, Siddharth Srivastava, Erin F Otness, Gaetan Lesca, Massimiliano Rossi, Mathilde Nizon, Raphael A Bernier, Chloé Quelin, Arie van Haeringen,[...]. Eur J Hum Genet 2021
0

Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Angela Morgan, Ruth Braden, Maggie M K Wong, Estelle Colin, David Amor, Frederique Liégeois, Siddharth Srivastava, Adam Vogel, Varoona Bizaoui, Kara Ranguin,[...]. Eur J Hum Genet 2021
0

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".
Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, Maria Cristina Aspromonte, Roberta Polli, Clementina Boniver, Stefano Sartori, Donatella Milani, Alessandra Murgia. Front Neurol 2020
0

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Bradley P Coe, Holly A F Stessman, Arvis Sulovari, Madeleine R Geisheker, Trygve E Bakken, Allison M Lake, Joseph D Dougherty, Ed S Lein, Fereydoun Hormozdiari, Raphael A Bernier,[...]. Nat Genet 2019
84

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Sandra Jansen, Ilse M van der Werf, A Micheil Innes, Alexandra Afenjar, Pankaj B Agrawal, Ilse J Anderson, Paldeep S Atwal, Ellen van Binsbergen, Marie-José van den Boogaard, Lucia Castiglia,[...]. Eur J Hum Genet 2019
8

Diagnostic implications of genetic copy number variation in epilepsy plus.
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik-Glaska, Berten Ceulemans, J Helen Cross,[...]. Epilepsia 2019
26