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: 323







List of shared articles



Times cited

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.
Guillaume Huguet, Catherine Schramm, Elise Douard, Petra Tamer, Antoine Main, Pauline Monin, Jade England, Khadije Jizi, Thomas Renne, Myriam Poirier,[...]. Mol Psychiatry 2021
4

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

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Lindsey D Goodman, Heidi Cope, Zelha Nil, Thomas A Ravenscroft, Wu-Lin Charng, Shenzhao Lu, An-Chi Tien, Rolph Pfundt, David A Koolen, Charlotte A Haaxma,[...]. Am J Hum Genet 2021
0

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick R Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles,[...]. Genet Med 2020
6

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Thomas Smol, Caroline Thuillier, Elise Boudry-Labis, Anne Dieux-Coeslier, Bénédicte Duban-Bedu, Roseline Caumes, Sonia Bouquillon, Sylvie Manouvrier-Hanu, Catherine Roche-Lestienne, Jamal Ghoumid. Neurogenetics 2020
3

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
F Kyle Satterstrom, Jack A Kosmicki, Jiebiao Wang, Michael S Breen, Silvia De Rubeis, Joon-Yong An, Minshi Peng, Ryan Collins, Jakob Grove, Lambertus Klei,[...]. Cell 2020
310


A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder.
Joanna Martin, Grace Hosking, Megan Wadon, Sharifah Shameem Agha, Kate Langley, Elliott Rees, Michael J Owen, Michael O'Donovan, George Kirov, Anita Thapar. Transl Psychiatry 2020
4

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung,[...]. Nat Commun 2020
14

Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Joanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J Arvai, Ruth Y Eberhardt, Giuseppe Gallone, Stefan H Lelieveld, Hilary C Martin, Jeremy F McRae,[...]. Nature 2020
36

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder.
Rory J Tinker, George J Burghel, Shruti Garg, Maggie Steggall, Sara Cuvertino, Siddharth Banka. Am J Med Genet A 2020
1


A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Bettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, Sirinart Molidperee, Gary G Chen, Mary Kay Koenig, Rhamat B Adejumo, Marianne Till, Michael Harbord, Renee Perrier,[...]. Genet Med 2019
12

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
95