A citation-based method for searching scientific literature

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D Beckmann, Gudmar Thorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B A de Vries, Tõnu Esko, Bridget A Fernandez, Fernando Fernández-Aranda, José Manuel Fernández-Real, Mònica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo-Riitta Jarvelin, R Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S Platt, Damien Sanlaville, Mieke M Van Haelst, Sergi Villatoro Gomez, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie-Claude Addor, Yves Alembik, Stylianos E Antonarakis, Benoît Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Beri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G Brunner, Dorothée Cailley, Patrick Callier, Jean Chiesa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean-Marie Cuisset, Jean-Christophe Cuvellier, Albert David, Bénédicte de Freminville, Bruno Delobel, Marie-Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco-Fenzy, Séverine Drunat, Bénédicte Duban-Bedu, Christèle Dubourg, Julia S El-Sayed Moustafa, Paul Elliott, Brigitte H W Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gerard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J Grabe, Agnès Guichet, Olivier Guillin, Anna-Liisa Hartikainen, Délphine Heron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez-Murcia, Géraldine Joly Helas, Philippe Jonveaux, Satu Kaksonen, Boris Keren, Anita Kloss-Brandstätter, Nine V A M Knoers, David A Koolen, Peter M Kroisel, Florian Kronenberg, Audrey Labalme, Emilie Landais, Elisabetta Lapi, Valérie Layet, Solenn Legallic, Bruno Leheup, Barbara Leube, Suzanne Lewis, Josette Lucas, Kay D MacDermot, Pall Magnusson, Christian Marshall, Michèle Mathieu-Dramard, Mark I McCarthy, Thomas Meitinger, Maria Antonietta Mencarelli, Giuseppe Merla, Alexandre Moerman, Vincent Mooser, Fanny Morice-Picard, Mafalda Mucciolo, Matthias Nauck, Ndeye Coumba Ndiaye, Ann Nordgren, Laurent Pasquier, Florence Petit, Rolph Pfundt, Ghislaine Plessis, Evica Rajcan-Separovic, Gian Paolo Ramelli, Anita Rauch, Roberto Ravazzolo, Andre Reis, Alessandra Renieri, Cristobal Richart, Janina S Ried, Claudine Rieubland, Wendy Roberts, Katharina M Roetzer, Caroline Rooryck, Massimiliano Rossi, Evald Saemundsen, Véronique Satre, Claudia Schurmann, Engilbert Sigurdsson, Dimitri J Stavropoulos, Hreinn Stefansson, Carola Tengström, Unnur Thorsteinsdóttir, Francisco J Tinahones, Renaud Touraine, Louis Vallée, Ellen van Binsbergen, Nathalie Van der Aa, Catherine Vincent-Delorme, Sophie Visvikis-Siest, Peter Vollenweider, Henry Völzke, Anneke T Vulto-van Silfhout, Gérard Waeber, Carina Wallgren-Pettersson, Robert M Witwicki, Simon Zwolinksi, Joris Andrieux, Xavier Estivill, James F Gusella, Omar Gustafsson, Andres Metspalu, Stephen W Scherer, Kari Stefansson, Alexandra I F Blakemore, Jacques S Beckmann, Philippe Froguel. Nature 2011
Times Cited: 259



Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley, Gary Clark, Jennifer Lee, Monica Proud, Amber Stocco, Diana L Rodriguez, Beth A Kozel, Steven Sparagana, Elizabeth R Roeder, Susan G McGrew, Thaddeus W Kurczynski, Leslie J Allison, Stephen Amato, Sarah Savage, Ankita Patel, Pawel Stankiewicz, Arthur L Beaudet, Sau Wai Cheung, James R Lupski. J Med Genet 2010
Times Cited: 317




List of shared articles



Times cited

Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models.
Sandra Martin Lorenzo, Valérie Nalesso, Claire Chevalier, Marie-Christine Birling, Yann Herault. Mol Autism 2021
2

16p11.2 deletion syndrome.
Wendy K Chung, Timothy Pl Roberts, Elliott H Sherr, LeeAnne Green Snyder, John E Spiro. Curr Opin Genet Dev 2021
0

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro.
Maria Sundberg, Hannah Pinson, Richard S Smith, Kellen D Winden, Pooja Venugopal, Derek J C Tai, James F Gusella, Michael E Talkowski, Christopher A Walsh, Max Tegmark,[...]. Nat Commun 2021
0

Copy Number Variations Analysis Identifies QPRT as a Candidate Gene Associated With Susceptibility for Solitary Functioning Kidney.
Xiao Y Zhou, Hao Y Zheng, Li Han, Yan Wang, Li Zhang, Xiao M Shu, Mu L Zhang, Guan N Liu, Lian S Ding. Front Genet 2021
0

Characterizing vulnerable brain areas and circuits in mouse models of autism: Towards understanding pathogenesis and new therapeutic approaches.
Kelvin Hui, Yuta Katayama, Keiichi I Nakayama, Jun Nomura, Takeshi Sakurai. Neurosci Biobehav Rev 2020
6

Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Xiaojun Ren, Nan Yang, Nan Wu, Ximing Xu, Weisheng Chen, Ling Zhang, Yingping Li, Ren-Qian Du, Shuangshuang Dong, Sen Zhao,[...]. J Med Genet 2020
8

Zebrafish as a tool to study schizophrenia-associated copy number variants.
Philip D Campbell, Michael Granato. Dis Model Mech 2020
1

Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.
Caleb Chu, Haotian Wu, Fangling Xu, Joseph W Ray, Allison Britt, Sally S Robinson, Pamela J Lupo, Christine R C Murphy, Charles F Dreyer, Phillip D K Lee,[...]. Lab Med 2020
0

Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children.
Rana Fetit, David J Price, Stephen M Lawrie, Mandy Johnstone. Psychiatr Genet 2020
1

Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Anna Lengyel, Éva Pinti, Henriett Pikó, Eszter Jávorszky, Dezső David, Mariann Tihanyi, Éva Gönczi, Eszter Kiss, Zsuzsa Tóth, Kálmán Tory,[...]. Eur J Med Genet 2020
0

16p11.2 Copy Number Variations and Neurodevelopmental Disorders.
Benjamin Rein, Zhen Yan. Trends Neurosci 2020
3

16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development.
Julien G Roth, Kristin L Muench, Aditya Asokan, Victoria M Mallett, Hui Gai, Yogendra Verma, Stephen Weber, Carol Charlton, Jonas L Fowler, Kyle M Loh,[...]. Elife 2020
3

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature.
Natália Oliva-Teles, Maria Chiara de Stefano, Louise Gallagher, Severin Rakic, Paula Jorge, Goran Cuturilo, Silvana Markovska-Simoska, Isabella Borg, Jeanne Wolstencroft, Zeynep Tümer,[...]. Int J Environ Res Public Health 2020
0

The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability.
Fátima Gimeno-Ferrer, David Albuquerque, Carola Guzmán Luján, Goitzane Marcaida Benito, Cristina Torreira Banzas, Alfredo Repáraz-Andrade, Virginia Ballesteros Cogollos, Montserrat Aleu Pérez-Gramunt, Enrique Galán Gómez, Inés Quintela,[...]. J Hum Genet 2019
1

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.
Thomas Arbogast, Parisa Razaz, Jacob Ellegood, Spencer U McKinstry, Serkan Erdin, Benjamin Currall, Tanya Aneichyk, Jason P Lerch, Lily R Qiu, Ramona M Rodriguiz,[...]. Hum Mol Genet 2019
11

Psychiatric disorders in children with 16p11.2 deletion and duplication.
Maria Niarchou, Samuel J R A Chawner, Joanne L Doherty, Anne M Maillard, Sébastien Jacquemont, Wendy K Chung, LeeAnne Green-Snyder, Raphael A Bernier, Robin P Goin-Kochel, Ellen Hanson,[...]. Transl Psychiatry 2019
42

Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.
Eirini Kostopoulou, Antonia Dastamani, Silvana Caiulo, Hannah Antell, Sarah E Flanagan, Pratik Shah. Clin Endocrinol (Oxf) 2019
5

Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency.
Rita Cicatiello, Piero Pignataro, Antonella Izzo, Nunzia Mollo, Lucia Pezone, Giuseppe Maria Maruotti, Laura Sarno, Gabriella Sglavo, Anna Conti, Rita Genesio,[...]. Med Sci (Basel) 2019
2


Atypical neural variability in carriers of 16p11.2 copy number variants.
Reem Al-Jawahiri, Myles Jones, Elizabeth Milne. Autism Res 2019
3

Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.
Laura E Egolf, Zalman Vaksman, Gonzalo Lopez, Jo Lynne Rokita, Apexa Modi, Patricia V Basta, Hakon Hakonarson, Andrew F Olshan, Sharon J Diskin. Am J Hum Genet 2019
10

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
Giuliana Giannuzzi, Paul J Schmidt, Eleonora Porcu, Gilles Willemin, Katherine M Munson, Xander Nuttle, Rachel Earl, Jacqueline Chrast, Kendra Hoekzema, Davide Risso,[...]. Am J Hum Genet 2019
6

Sulfotransferase 1A3/4 copy number variation is associated with neurodegenerative disease.
N J Butcher, M K Horne, G D Mellick, C J Fowler, C L Masters, R F Minchin. Pharmacogenomics J 2018
6

16p11.2 transcription factor MAZ is a dosage-sensitive regulator of genitourinary development.
Meade Haller, Jason Au, Marisol O'Neill, Dolores J Lamb. Proc Natl Acad Sci U S A 2018
15

Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions.
Shaobin Lin, Shanshan Shi, Yi Zhou, Yuanjun Ji, Peizhi Huang, Jianzhu Wu, Baojiang Chen, Yanmin Luo. Prenat Diagn 2018
4


Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.
Luca Lovrecic, Chiara Gnan, Federica Baldan, Alessandra Franzoni, Sara Bertok, Giuseppe Damante, Bertrand Isidor, Borut Peterlin. Mol Cytogenet 2018
0

Recent Advances in the Genetics of Schizophrenia.
Dimitrios Avramopoulos. Mol Neuropsychiatry 2018
32


Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
M N Loviglio, M Leleu, K Männik, M Passeggeri, G Giannuzzi, I van der Werf, S M Waszak, M Zazhytska, I Roberts-Caldeira, N Gheldof,[...]. Mol Psychiatry 2017
36

The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.
Jasmine M McCammon, Alicia Blaker-Lee, Xiao Chen, Hazel Sive. Hum Mol Genet 2017
12

[16p11.2 Microdeletion: first report in Argentina].
Agostina Tardivo, Bárbara Masotto, Lucía Espeche, Andrea P Solari, Julián Nevado, Sandra Rozental. Arch Argent Pediatr 2017
2

Longitudinal report of child with de novo 16p11.2 triplication.
Arianne S Wallace, Caitlin M Hudac, Kyle J Steinman, Jessica L Peterson, Trent D DesChamps, Michael H Duyzend, Xander Nuttle, Evan E Eichler, Raphael A Bernier. Clin Case Rep 2017
2

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.
Evelina Fedorenko, Angela Morgan, Elizabeth Murray, Annie Cardinaux, Cristina Mei, Helen Tager-Flusberg, Simon E Fisher, Nancy Kanwisher. Eur J Hum Genet 2016
33

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Karl Hackmann, Andreas Rump, Stefan A Haas, Johannes R Lemke, Jean-Pierre Fryns, Andreas Tzschach, Dagmar Wieczorek, Beate Albrecht, Alma Kuechler, Tim Ripperger,[...]. Am J Med Genet A 2016
7


Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014.
Monica Aas, Gabriëlla A M Blokland, Samuel J R A Chawner, Shing-Wan Choi, Jose Estrada, Annika Forsingdal, Maximilian Friedrich, Suhas Ganesham, Lynsey Hall, Denise Haslinger,[...]. Psychiatr Genet 2016
0