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



Christelle Golzio, Jason Willer, Michael E Talkowski, Edwin C Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F Gusella, Atsushi Kamiya, Jacques S Beckmann, Nicholas Katsanis. Nature 2012
Times Cited: 231




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
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

Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.
Monika Szelest, Martyna Stefaniak, Gabriela Ręka, Ilona Jaszczuk, Monika Lejman. BMC Med Genomics 2021
0

Expression of Genes in the 16p11.2 Locus during Development of the Human Fetal Cerebral Cortex.
Sarah Morson, Yifei Yang, David J Price, Thomas Pratt. Cereb Cortex 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

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

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

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.
Melanie Richter, Nadeem Murtaza, Robin Scharrenberg, Sean H White, Ole Johanns, Susan Walker, Ryan K C Yuen, Birgit Schwanke, Bianca Bedürftig, Melad Henis,[...]. Mol Psychiatry 2019
40

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


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

Focal Cortical Anomalies and Language Impairment in 16p11.2 Deletion and Duplication Syndrome.
Karen Blackmon, Thomas Thesen, Sophie Green, Emma Ben-Avi, Xiuyuan Wang, Benjamin Fuchs, Ruben Kuzniecky, Orrin Devinsky. Cereb Cortex 2018
12


Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human.
Alice Bertero, Adam Liska, Marco Pagani, Roberta Parolisi, Maria Esteban Masferrer, Marta Gritti, Matteo Pedrazzoli, Alberto Galbusera, Alessia Sarica, Antonio Cerasa,[...]. Brain 2018
37

Pharmacological Inhibition of ERK Signaling Rescues Pathophysiology and Behavioral Phenotype Associated with 16p11.2 Chromosomal Deletion in Mice.
Joanna Pucilowska, Joseph Vithayathil, Marco Pagani, Caitlin Kelly, J Colleen Karlo, Camilla Robol, Ilaria Morella, Alessandro Gozzi, Riccardo Brambilla, Gary E Landreth. J Neurosci 2018
28

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

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

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

Kctd13 deletion reduces synaptic transmission via increased RhoA.
Christine Ochoa Escamilla, Irina Filonova, Angela K Walker, Zhong X Xuan, Roopashri Holehonnur, Felipe Espinosa, Shunan Liu, Summer B Thyme, Isabel A López-García, Dorian B Mendoza,[...]. Nature 2017
44

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


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

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