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: 154



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

Identification of 16p11.2 deletion syndrome on a child inpatient psychiatric unit: A case report and call for inpatient genetic testing.
William Gibbs, Harrison Bell, Aniruddh Ajith, Kim Sadtler, Katrina Escuro, Deborah Brooks, Sarah Edwards. J Child Adolesc Psychiatr Nurs 2021
1

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

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

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

Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication.
Junko Matsuzaki, Jeffrey I Berman, Lisa Blaskey, Emily S Kuschner, Leah Gaetz, Pratik Mukherjee, Randy L Buckner, Srikantan S Nagarajan, Wendy K Chung, Elliott H Sherr,[...]. Biol Psychiatry Cogn Neurosci Neuroimaging 2020
0

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

Language characterization in 16p11.2 deletion and duplication syndromes.
So Hyun Kim, LeeAnne Green-Snyder, Catherine Lord, Somer Bishop, Kyle J Steinman, Raphael Bernier, Ellen Hanson, Robin P Goin-Kochel, Wendy K Chung. Am J Med Genet B Neuropsychiatr Genet 2020
4

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
4

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

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
45

Clinical, molecular genetics and therapeutic aspects of syndromic obesity.
E Geets, M E C Meuwissen, W Van Hul. Clin Genet 2019
12

PRRT2-related phenotypes in patients with a 16p11.2 deletion.
Danique R M Vlaskamp, Petra M C Callenbach, Patrick Rump, Lucia A A Giannini, Eva H Brilstra, Trijnie Dijkhuizen, Yvonne J Vos, Anne-Marie F van der Kevie-Kersemaekers, Jeroen Knijnenburg, Nicole de Leeuw,[...]. Eur J Med Genet 2019
7

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

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.
Brooke Sadler, Gabe Haller, Lilian Antunes, Xavier Bledsoe, Jose Morcuende, Philip Giampietro, Cathleen Raggio, Nancy Miller, Yared Kidane, Carol A Wise,[...]. J Med Genet 2019
4

Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers.
Leighton B N Hinkley, Corby L Dale, Tracy L Luks, Anne M Findlay, Polina Bukshpun, Nick Pojman, Tony Thieu, Wendy K Chung, Jeffrey Berman, Timothy P L Roberts,[...]. J Neurosci 2019
4

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

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


Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions.
Carly Demopoulos, Hardik Kothare, Danielle Mizuiri, Jennifer Henderson-Sabes, Brieana Fregeau, Jennifer Tjernagel, John F Houde, Elliott H Sherr, Srikantan S Nagarajan. Sci Rep 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


Chemogenetic Activation of Prefrontal Cortex Rescues Synaptic and Behavioral Deficits in a Mouse Model of 16p11.2 Deletion Syndrome.
Wei Wang, Benjamin Rein, Freddy Zhang, Tao Tan, Ping Zhong, Luye Qin, Zhen Yan. J Neurosci 2018
22

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

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
48

Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry.
Christian G Bouwkamp, Anneke J A Kievit, Sander Markx, Joseph I Friedman, Laura van Zutven, Rick van Minkelen, Terry Vrijenhoek, Bin Xu, Ineke Sterrenburg-van de Nieuwegiessen, Joris A Veltman,[...]. Am J Psychiatry 2017
8

Minor physical anomalies in neurodevelopmental disorders: a twin study.
Lynnea Myers, Britt-Marie Anderlid, Ann Nordgren, Charlotte Willfors, Ralf Kuja-Halkola, Kristiina Tammimies, Sven Bölte. Child Adolesc Psychiatry Ment Health 2017
9

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

Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.
Julian Jenkins, Vivian Chow, Lisa Blaskey, Emily Kuschner, Saba Qasmieh, Leah Gaetz, J Christopher Edgar, Pratik Mukherjee, Randall Buckner, Srikantan S Nagarajan,[...]. Cereb Cortex 2016
18

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


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
103

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
49

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

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