A citation-based method for searching scientific literature

Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi, Joseph Shen, Sung-Hae L Kang, Amber Pursley, Timothy Lotze, Gail Kennedy, Susan Lansky-Shafer, Christine Weaver, Elizabeth R Roeder, Theresa A Grebe, Georgianne L Arnold, Terry Hutchison, Tyler Reimschisel, Stephen Amato, Michael T Geragthy, Jeffrey W Innis, Ewa Obersztyn, Beata Nowakowska, Sally S Rosengren, Patricia I Bader, Dorothy K Grange, Sayed Naqvi, Adolfo D Garnica, Saunder M Bernes, Chin-To Fong, Anne Summers, W David Walters, James R Lupski, Pawel Stankiewicz, Sau Wai Cheung, Ankita Patel. Nat Genet 2008
Times Cited: 385



Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K Maloney, John A Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koen Devriendt, Ernie M H F Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frederique Bena, Raoul C Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton-Smith, Ingrid Simonic, Soo Mi Park, Sarju G Mehta, Serena Nik-Zainal, C Geoffrey Woods, Helen V Firth, Georgina Parkin, Marco Fichera, Santina Reitano, Mariangela Lo Giudice, Kelly E Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John L Tolmie, Edward S Tobias, Chris Lilley, Lluis Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel R Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary-Claire King, Regina Regan, Cindy Skinner, Roger E Stevenson, Stylianos E Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S Sutcliffe, Tom Walsh, Samantha J L Knight, Jonathan Sebat, Corrado Romano, Charles E Schwartz, Joris A Veltman, Bert B A de Vries, Joris R Vermeesch, John C K Barber, Lionel Willatt, May Tassabehji, Evan E Eichler. N Engl J Med 2008
Times Cited: 510




List of shared articles



Times cited

Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review.
Hongguo Zhang, Fagui Yue, Xinyue Zhang, Jing He, Yuting Jiang, Ruizhi Liu, Yang Yu. Medicine (Baltimore) 2021
1

The psychiatric phenotypes of 1q21 distal deletion and duplication.
Stefanie C Linden, Cameron J Watson, Jacqueline Smith, Samuel J R A Chawner, Thomas M Lancaster, Ffion Evans, Nigel Williams, David Skuse, F Lucy Raymond, Jeremy Hall,[...]. Transl Psychiatry 2021
1

Genomic Variation, Evolvability, and the Paradox of Mental Illness.
Camillo Thomas Gualtieri. Front Psychiatry 2021
0

Clinical characterization of individuals with the distal 1q21.1 microdeletion.
Stacey D Edwards, Katharina V Schulze, Jill A Rosenfeld, Lauren E Westerfield, Amanda Gerard, Bo Yuan, Elena L Grigorenko, Jennifer E Posey, Weimin Bi, Pengfei Liu. Am J Med Genet A 2021
0

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
Ida E Sønderby, Christopher R K Ching, Sophia I Thomopoulos, Dennis van der Meer, Daqiang Sun, Julio E Villalon-Reina, Ingrid Agartz, Katrin Amunts, Celso Arango, Nicola J Armstrong,[...]. Hum Brain Mapp 2021
0

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Ida E Sønderby, Dennis van der Meer, Clara Moreau, Tobias Kaufmann, G Bragi Walters, Maria Ellegaard, Abdel Abdellaoui, David Ames, Katrin Amunts, Micael Andersson,[...]. Transl Psychiatry 2021
1

Human-Specific Genes, Cortical Progenitor Cells, and Microcephaly.
Michael Heide, Wieland B Huttner. Cells 2021
0


Using induced pluripotent stem cells to investigate human neuronal phenotypes in 1q21.1 deletion and duplication syndrome.
Gareth Chapman, Mouhamed Alsaqati, Sharna Lunn, Tanya Singh, Stefanie C Linden, David E J Linden, Marianne B M van den Bree, Mike Ziller, Michael J Owen, Jeremy Hall,[...]. Mol Psychiatry 2021
0

Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathways.
Vinita Jagannath, Edna Grünblatt, Anastasia Theodoridou, Beatrice Oneda, Alexander Roth, Miriam Gerstenberg, Maurizia Franscini, Nina Traber-Walker, Christoph U Correll, Karsten Heekeren,[...]. Am J Med Genet B Neuropsychiatr Genet 2020
0

The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome.
Ilea E Heft, Yulia Mostovoy, Michal Levy-Sakin, Walfred Ma, Aaron J Stevens, Steven Pastor, Jennifer McCaffrey, Dario Boffelli, David I Martin, Ming Xiao,[...]. Genetics 2020
1

Dosage-dependent requirements of Magoh for cortical interneuron generation and survival.
Charles J Sheehan, John J McMahon, Lucas D Serdar, Debra L Silver. Development 2020
4

Discordance of cardiovascular abnormalities in a monozygotic twin pair carrying a class II 1q21.1 microdeletion.
Shan-Shan Shi, Shao-Bin Lin, Dan-Lei Cai, Wang-Rong Wen, Rui-Man Li. Taiwan J Obstet Gynecol 2020
1

Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.
Gerrald A Lodewijk, Diana P Fernandes, Iraklis Vretzakis, Jeanne E Savage, Frank M J Jacobs. Mol Biol Evol 2020
2

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
Priyanka Upadhyai, Eram Fatima Amiri, Vishal Singh Guleria, Stephanie L Bielas, Katta Mohan Girisha, Anju Shukla. Clin Dysmorphol 2020
1

Long-read human genome sequencing and its applications.
Glennis A Logsdon, Mitchell R Vollger, Evan E Eichler. Nat Rev Genet 2020
41

Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development.
Tanzeen Yusuff, Matthew Jensen, Sneha Yennawar, Lucilla Pizzo, Siddharth Karthikeyan, Dagny J Gould, Avik Sarker, Erika Gedvilaite, Yurika Matsui, Janani Iyer,[...]. PLoS Genet 2020
2

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype.
Xiaoqing Wu, Ying Li, Linjuan Su, Xiaorui Xie, Meiying Cai, Na Lin, Hailong Huang, Yuan Lin, Liangpu Xu. Mol Diagn Ther 2020
0

Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1.
Hui Pang, Xiaowei Yu, Young Mi Kim, Xianfu Wang, Jeremy K Jinkins, Jianing Yin, Shibo Li, Hongcang Gu. Front Genet 2020
1

Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.
Katja Kobow, Samir Jabari, Tom Pieper, Manfred Kudernatsch, Tilman Polster, Friedrich G Woermann, Thilo Kalbhenn, Hajo Hamer, Karl Rössler, Angelika Mühlebner,[...]. Acta Neuropathol 2020
1

Full function of exon junction complex factor, Rbm8a, is critical for interneuron development.
Colleen McSweeney, Fengping Dong, Miranda Chen, Jessica Vitale, Li Xu, Nicole Crowley, Bernhard Luscher, Donghua Zou, Yingwei Mao. Transl Psychiatry 2020
1

Brain Disorders and Chemical Pollutants: A Gap Junction Link?
Marc Mesnil, Norah Defamie, Christian Naus, Denis Sarrouilhe. Biomolecules 2020
1

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, Dorine Arjanne Bax, Fiona Blanco-Kelly, Patricia Ramos, Maria Tarilonte, Cristina Villaverde, Luciana Rodrigues Jacy da Silva, Maria Juliana Ballesta-Martínez,[...]. Hum Genet 2019
18

Distal 1q21.1 and proximal 1q21.2 microduplication in a child with attention-deficit hyperactivity disorder.
Aravindhan Veerapandiyan, Daniel Oh, Jeffrey Kornitzer. Acta Neurol Belg 2019
0

A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism.
Jonathan M Davis, Ilea Heft, Stephen W Scherer, James M Sikela. Am J Psychiatry 2019
6

An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
A C Ceylan, I Sahin, H B Erdem, G Kayhan, P O Simsek-Kiper, G E Utine, F Percin, K Boduroglu, M Alikasifoglu. J Intellect Disabil Res 2019
2


Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution.
Ian T Fiddes, Alex A Pollen, Jonathan M Davis, James M Sikela. Hum Genet 2019
6


1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems.
Hande Kaymakçalan, Peining Li. Indian J Pediatr 2019
0

Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene.
J Alexander Bodkin, Michael J Coleman, Laura J Godfrey, Claudia M B Carvalho, Charity J Morgan, Raymond F Suckow, Thea Anderson, Dost Öngür, Marc J Kaufman, Kathryn E Lewandowski,[...]. Biol Psychiatry 2019
15


Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound.
Chih-Ping Chen, Jian-Pei Huang, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Wayseen Wang, Chen-Chi Lee. Taiwan J Obstet Gynecol 2019
2

Genetic basis of human congenital anomalies of the kidney and urinary tract.
Simone Sanna-Cherchi, Rik Westland, Gian Marco Ghiggeri, Ali G Gharavi. J Clin Invest 2018
30


1q21.1 Duplication syndrome and epilepsy: Case report and review.
Ioulia Gourari, Romaine Schubert, Aparna Prasad. Neurol Genet 2018
4

Repint of "Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity".
S Tordjman, D Cohen, G M Anderson, M Botbol, R Canitano, N Coulon, P L Roubertoux. Neurosci Biobehav Rev 2018
17


Roles of the exon junction complex components in the central nervous system: a mini review.
Katarzyna Bartkowska, Beata Tepper, Kris Turlejski, Ruzanna L Djavadian. Rev Neurosci 2018
4

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
Ian T Fiddes, Gerrald A Lodewijk, Meghan Mooring, Colleen M Bosworth, Adam D Ewing, Gary L Mantalas, Adam M Novak, Anouk van den Bout, Alex Bishara, Jimi L Rosenkrantz,[...]. Cell 2018
143

Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation.
Ikuo K Suzuki, David Gacquer, Roxane Van Heurck, Devesh Kumar, Marta Wojno, Angéline Bilheu, Adèle Herpoel, Nelle Lambert, Julian Cheron, Franck Polleux,[...]. Cell 2018
110

Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome.
Antonio Benítez-Burraco, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Maite Fernández-Urquiza, Raúl Torres-Ruiz, Sandra Rodríguez-Perales, Ma Salud Jiménez-Romero. Front Pediatr 2018
5

1q21.1 microduplication: large verbal-nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number.
Jean Xavier, Bo Zhou, Frédéric Bilan, Xianglong Zhang, Brigitte Gilbert-Dussardier, Sylvie Viaux-Savelon, Reenal Pattni, Steve S Ho, David Cohen, Douglas F Levinson,[...]. NPJ Genom Med 2018
3

Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies.
Xiuqing Ji, Qiong Pan, Yan Wang, Yun Wu, Jing Zhou, An Liu, Fengchang Qiao, Dingyuan Ma, Ping Hu, Zhengfeng Xu. Front Genet 2018
2

Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound.
Chih-Ping Chen, Shu-Yuan Chang, Yen-Ni Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Li-Feng Chen,[...]. Taiwan J Obstet Gynecol 2018
3


Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Mary Ella Pierpont, Martina Brueckner, Wendy K Chung, Vidu Garg, Ronald V Lacro, Amy L McGuire, Seema Mital, James R Priest, William T Pu, Amy Roberts,[...]. Circulation 2018
87

The exon junction complex: a lifelong guardian of mRNA fate.
Lauren A Woodward, Justin W Mabin, Pooja Gangras, Guramrit Singh. Wiley Interdiscip Rev RNA 2017
37

A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population.
Jianmin Yuan, Jianlin Hu, Zhiqiang Li, Fuquan Zhang, Dexiang Zhou, Chunhui Jin. Hereditas 2017
3

Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity.
S Tordjman, D Cohen, N Coulon, G M Anderson, M Botbol, R Canitano, P L Roubertoux. Neurosci Biobehav Rev 2017
14