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



David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein, W Andrew Faucett, Lars Feuk, Jan M Friedman, Ada Hamosh, Laird Jackson, Erin B Kaminsky, Klaas Kok, Ian D Krantz, Robert M Kuhn, Charles Lee, James M Ostell, Carla Rosenberg, Stephen W Scherer, Nancy B Spinner, Dimitri J Stavropoulos, James H Tepperberg, Erik C Thorland, Joris R Vermeesch, Darrel J Waggoner, Michael S Watson, Christa Lese Martin, David H Ledbetter. Am J Hum Genet 2010
Times Cited: 1485




List of shared articles



Times cited

Universal chromosomal microarray analysis reveals high proportion of copy-number variants in low-risk pregnancies.
S Stern, N Hacohen, V Meiner, S Yagel, S Zenvirt, S Shkedi-Rafid, M Macarov, D V Valsky, S Porat, N Yanai,[...]. Ultrasound Obstet Gynecol 2021
8

A study of normal copy number variations in Israeli population.
Idit Maya, Pola Smirin-Yosef, Sarit Kahana, Sne Morag, Shiri Yacobson, Ifaat Agmon-Fishman, Reut Matar, Elisheva Bitton, Mordechai Shohat, Lina Basel-Salmon,[...]. Hum Genet 2021
1

CNV profiles of Chinese pediatric patients with developmental disorders.
Haiming Yuan, Shaofang Shangguan, Zhengchang Li, Jingsi Luo, Jiasun Su, Ruen Yao, Shun Zhang, Chen Liang, Qian Chen, Zhijie Gao,[...]. Genet Med 2021
1

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

Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
Minh-Tuan Huynh, Marion Gérard, Kara Ranguin, Olivier Pichon, Leila Ghesh, Khalid Alfallaj, Madeleine Joubert, Stéphane Bézieau, Claire Bénéteau. Neurogenetics 2021
0

Optical genome mapping enables constitutional chromosomal aberration detection.
Tuomo Mantere, Kornelia Neveling, Céline Pebrel-Richard, Marion Benoist, Guillaume van der Zande, Ellen Kater-Baats, Imane Baatout, Ronald van Beek, Tony Yammine, Michiel Oorsprong,[...]. Am J Hum Genet 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

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Elena A Repnikova, Dmitry A Lyalin, Kimberly McDonald, Caroline Astbury, Emily Hansen-Kiss, Linda D Cooley, Ruthann Pfau, Gail E Herman, Robert E Pyatt, Scott E Hickey. Eur J Med Genet 2020
2


Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach.
Joke Muys, Bettina Blaumeiser, Katrien Janssens, Patrick Loobuyck, Yves Jacquemyn. J Med Ethics 2020
7


Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Joke Muys, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Anne De Leener, Marjan De Rademaeker, Julie Désir,[...]. Prenat Diagn 2020
1

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell, Meredith Curtis, Stephanie Luca, Jason Buera, Danielle Arje, Miriam S Reuter,[...]. JAMA Netw Open 2020
6

Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.
Flavia Angela Maria Maggiolini, Ashley D Sanders, Colin James Shew, Arvis Sulovari, Yafei Mao, Marta Puig, Claudia Rita Catacchio, Maria Dellino, Donato Palmisano, Ludovica Mercuri,[...]. Genome Res 2020
1

Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.
Rongyue Wang, Tingying Lei, Fang Fu, Ru Li, Xiangyi Jing, Xin Yang, Juan Liu, Dongzhi Li, Can Liao. Pediatr Neonatol 2019
9