A citation-based method for searching scientific literature

Flore Zufferey, Elliott H Sherr, Noam D Beckmann, Ellen Hanson, Anne M Maillard, Loyse Hippolyte, Aurélien Macé, Carina Ferrari, Zoltán Kutalik, Joris Andrieux, Elizabeth Aylward, Mandy Barker, Raphael Bernier, Sonia Bouquillon, Philippe Conus, Bruno Delobel, W Andrew Faucett, Robin P Goin-Kochel, Ellen Grant, Louise Harewood, Jill V Hunter, Sébastien Lebon, David H Ledbetter, Christa Lese Martin, Katrin Männik, Danielle Martinet, Pratik Mukherjee, Melissa B Ramocki, Sarah J Spence, Kyle J Steinman, Jennifer Tjernagel, John E Spiro, Alexandre Reymond, Jacques S Beckmann, Wendy K Chung, Sébastien Jacquemont. J Med Genet 2012
Times Cited: 152



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




List of shared articles



Times cited

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Brooke Sadler, Jackson Wilborn, Lilian Antunes, Timothy Kuensting, Andrew T Hale, Stephen R Gannon, Kevin McCall, Carlos Cruchaga, Matthew Harms, Norine Voisin,[...]. Am J Hum Genet 2021
0

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
0

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

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
Ida E Sønderby, Ómar Gústafsson, Nhat Trung Doan, Derrek P Hibar, Sandra Martin-Brevet, Abdel Abdellaoui, David Ames, Katrin Amunts, Michael Andersson, Nicola J Armstrong,[...]. Mol Psychiatry 2020
18

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

The Role of Genetic Variation of BMI, Body Composition, and Fat Distribution for Mental Traits and Disorders: A Look-Up and Mendelian Randomization Study.
Triinu Peters, Lena Nüllig, Jochen Antel, Roaa Naaresh, Björn-Hergen Laabs, Lisa Tegeler, Chaima Amhaouach, Lars Libuda, Anke Hinney, Johannes Hebebrand. Front Genet 2020
2

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

Rare genetic causes of complex kidney and urological diseases.
Emily E Groopman, Gundula Povysil, David B Goldstein, Ali G Gharavi. Nat Rev Nephrol 2020
2

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

Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia.
Clara A Moreau, Sebastian G W Urchs, Kumar Kuldeep, Pierre Orban, Catherine Schramm, Guillaume Dumas, Aurélie Labbe, Guillaume Huguet, Elise Douard, Pierre-Olivier Quirion,[...]. Nat Commun 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
39

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

Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.
Julia P Owen, Polina Bukshpun, Nicholas Pojman, Tony Thieu, Qixuan Chen, Jihui Lee, Debra D'Angelo, Orit A Glenn, Jill V Hunter, Jeffrey I Berman,[...]. Radiology 2018
14

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


Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, Clara Moreau, Claudia Modenato, Anne M Maillard, Aurélie Pain, Sonia Richetin, Aia E Jønch, Abid Y Qureshi,[...]. Biol Psychiatry 2018
23

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
34

Developmental trajectories for young children with 16p11.2 copy number variation.
Raphael Bernier, Caitlin M Hudac, Qixuan Chen, Chubing Zeng, Arianne Stevens Wallace, Jennifer Gerdts, Rachel Earl, Jessica Peterson, Anne Wolken, Alana Peters,[...]. Am J Med Genet B Neuropsychiatr Genet 2017
23

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

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Aurélien Macé, Marcus A Tuke, Patrick Deelen, Kati Kristiansson, Hannele Mattsson, Margit Nõukas, Yadav Sapkota, Ursula Schick, Eleonora Porcu, Sina Rüeger,[...]. Nat Commun 2017
31

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Maria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch, Stephan C Collins, Konstantin Popadin, Camille S Bonnet, Giuliana Giannuzzi, Anne M Maillard, Sébastien Jacquemont, Binnaz Yalcin,[...]. Am J Hum Genet 2017
15

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
31


16p11.2 Locus modulates response to satiety before the onset of obesity.
A M Maillard, L Hippolyte, B Rodriguez-Herreros, S J R A Chawner, D Dremmel, Z Agüera, A B Fagundo, A Pain, S Martin-Brevet, A Hilbert,[...]. Int J Obes (Lond) 2016
13

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
Debra D'Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne M Maillard, W Andrew Faucett, Aurélien Macé,[...]. JAMA Psychiatry 2016
101

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
Loyse Hippolyte, Anne M Maillard, Borja Rodriguez-Herreros, Aurélie Pain, Sandra Martin-Brevet, Carina Ferrari, Philippe Conus, Aurélien Macé, Nouchine Hadjikhani, Andres Metspalu,[...]. Biol Psychiatry 2016
48

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
Michael H Duyzend, Xander Nuttle, Bradley P Coe, Carl Baker, Deborah A Nickerson, Raphael Bernier, Evan E Eichler. Am J Hum Genet 2016
32

Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers.
J I Berman, D Chudnovskaya, L Blaskey, E Kuschner, P Mukherjee, R Buckner, S Nagarajan, W K Chung, E H Sherr, T P L Roberts. AJNR Am J Neuroradiol 2016
12

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.
Thomas Arbogast, Abdel-Mouttalib Ouagazzal, Claire Chevalier, Maksym Kopanitsa, Nurudeen Afinowi, Eugenia Migliavacca, Belinda S Cowling, Marie-Christine Birling, Marie-France Champy, Alexandre Reymond,[...]. PLoS Genet 2016
54

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.
LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, Raphael Bernier, Robin P Goin-Kochel, Arianne Stevens Wallace, Jennifer Gerdts, Stephen Kanne, Leandra Berry, Lisa Blaskey,[...]. J Autism Dev Disord 2016
27

Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.
Yi Shin Chang, Julia P Owen, Nicholas J Pojman, Tony Thieu, Polina Bukshpun, Mari L J Wakahiro, Elysa J Marco, Jeffrey I Berman, John E Spiro, Wendy K Chung,[...]. Hum Brain Mapp 2016
22


New quality measure for SNP array based CNV detection.
A Macé, M A Tuke, J S Beckmann, L Lin, S Jacquemont, M N Weedon, A Reymond, Z Kutalik. Bioinformatics 2016
11