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



Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel-Hamid, Patricia Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C Ballif, Lisa G Shaffer, Evan E Eichler. Nat Genet 2011
Times Cited: 794




List of shared articles



Times cited

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

Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis.
Panlai Shi, Yanjie Xia, Qianqian Li, Xiangdong Kong. J Obstet Gynaecol Res 2021
0

Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants.
Elmo Christian Saarentaus, Aki Samuli Havulinna, Nina Mars, Ari Ahola-Olli, Tuomo Tapio Johannes Kiiskinen, Juulia Partanen, Sanni Ruotsalainen, Mitja Kurki, Lea Martta Urpa, Lei Chen,[...]. Mol Psychiatry 2021
0

Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients.
Karin Wallander, Jesper Eisfeldt, Mats Lindblad, Daniel Nilsson, Kenny Billiau, Hassan Foroughi, Magnus Nordenskjöld, Agne Liedén, Emma Tham. PLoS One 2021
0

The genetic basis of major depression.
K M Kendall, E Van Assche, T F M Andlauer, K W Choi, J J Luykx, E C Schulte, Y Lu. Psychol Med 2021
1

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.
Yulia Mostovoy, Feyza Yilmaz, Stephen K Chow, Catherine Chu, Chin Lin, Elizabeth A Geiger, Naomi J L Meeks, Kathryn C Chatfield, Curtis R Coughlin, Urvashi Surti,[...]. Genetics 2021
0

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.
Susan M Hiatt, James M J Lawlor, Lori H Handley, Ryne C Ramaker, Brianne B Rogers, E Christopher Partridge, Lori Beth Boston, Melissa Williams, Christopher B Plott, Jerry Jenkins,[...]. HGG Adv 2021
0


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

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
273

MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.
Patricia Mansfield, John N Constantino, Dustin Baldridge. Am J Med Genet B Neuropsychiatr Genet 2020
0

De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.
Calvin P Sjaarda, Beatrice Kaiser, Amy J M McNaughton, Melissa L Hudson, Liam Harris-Lowe, Kyle Lou, Andrea Guerin, Muhammad Ayub, Xudong Liu. Cold Spring Harb Mol Case Stud 2020
0


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

Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates.
Marcus Tuke, Jessica Tyrrell, Katherine S Ruth, Robin N Beaumont, Andrew R Wood, Anna Murray, Timothy M Frayling, Michael N Weedon, Caroline F Wright. Am J Hum Genet 2020
1

Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs.
Pauline C Schut, Erwin Brosens, Tom J M Van Dooren, Frietson Galis, Clara M A Ten Broek, Inge M M Baijens, Marjolein H G Dremmen, Dick Tibboel, Martin P Schol, Annelies de Klein,[...]. Birth Defects Res 2020
1


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
25

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
0

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


Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.
Victória Cabral Silveira Monteiro de Godoy, Fernanda Teixeira Bellucco, Mileny Colovati, Hélio Rodrigues de Oliveira-Junior, Mariana Moysés-Oliveira, Maria Isabel Melaragno. Genet Mol Biol 2020
0

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
11

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank.
Karen Crawford, Matthew Bracher-Smith, David Owen, Kimberley M Kendall, Elliott Rees, Antonio F Pardiñas, Mark Einon, Valentina Escott-Price, James T R Walters, Michael C O'Donovan,[...]. J Med Genet 2019
37

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

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.
Glenda M Beaman, Adrian S Woolf, Raimondo M Cervellione, David Keene, Imran Mushtaq, Jill E Urquhart, Helen M Stuart, William G Newman. Am J Med Genet A 2019
2

The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders.
Cheen Euong Ang, Qing Ma, Orly L Wapinski, ShengHua Fan, Ryan A Flynn, Qian Yi Lee, Bradley Coe, Masahiro Onoguchi, Victor Hipolito Olmos, Brian T Do,[...]. Elife 2019
28

Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank.
Kimberley M Kendall, Matthew Bracher-Smith, Harry Fitzpatrick, Amy Lynham, Elliott Rees, Valentina Escott-Price, Michael J Owen, Michael C O'Donovan, James T R Walters, George Kirov. Br J Psychiatry 2019
30

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Lubica Dudakova, Cerys J Evans, Nikolas Pontikos, Nathaniel J Hafford-Tear, Frantisek Malinka, Pavlina Skalicka, Ales Horinek, Francis L Munier, Nathalie Voide, Pavel Studeny,[...]. Exp Eye Res 2019
2