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



Lauren A Weiss, Yiping Shen, Joshua M Korn, Dan E Arking, David T Miller, Ragnheidur Fossdal, Evald Saemundsen, Hreinn Stefansson, Manuel A R Ferreira, Todd Green, Orah S Platt, Douglas M Ruderfer, Christopher A Walsh, David Altshuler, Aravinda Chakravarti, Rudolph E Tanzi, Kari Stefansson, Susan L Santangelo, James F Gusella, Pamela Sklar, Bai-Lin Wu, Mark J Daly. N Engl J Med 2008
Times Cited: 1079




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

Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.
Joana Maria Almeida Osório, Borja Rodríguez-Herreros, David Romascano, Vincent Junod, Aline Habegger, Aurélie Pain, Sonia Richetin, Paola Yu, Bertrand Isidor, Lionel Van Maldergem,[...]. 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

Dissecting autism and schizophrenia through neuroimaging genomics.
Clara A Moreau, Armin Raznahan, Pierre Bellec, Mallar Chakravarty, Paul M Thompson, Sebastien Jacquemont. Brain 2021
0

Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.
Lucilla Pizzo, Micaela Lasser, Tanzeen Yusuff, Matthew Jensen, Phoebe Ingraham, Emily Huber, Mayanglambam Dhruba Singh, Connor Monahan, Janani Iyer, Inshya Desai,[...]. PLoS Genet 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

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

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

The transcription factor Maz is essential for normal eye development.
Olga Medina-Martinez, Meade Haller, Jill A Rosenfeld, Marisol A O'Neill, Dolores J Lamb, Milan Jamrich. Dis Model Mech 2020
0

Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
Caitlin M Hudac, Joanna Bove, Shelley Barber, Michael Duyzend, Ari Wallace, Christa Lese Martin, David H Ledbetter, Ellen Hanson, Robin P Goin-Kochel, LeeAnne Green-Snyder,[...]. Autism Res 2020
5

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.
Ilse M van der Werf, Sandra Jansen, Petra F de Vries, Amber Gerstmans, Maartje van de Vorst, Anke Van Dijck, Bert B A de Vries, Christian Gilissen, Alexander Hoischen, Lisenka E L M Vissers,[...]. Eur J Hum Genet 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

Rare genetic causes of complex kidney and urological diseases.
Emily E Groopman, Gundula Povysil, David B Goldstein, Ali G Gharavi. Nat Rev Nephrol 2020
3

Comprehensive Behavioral Phenotyping of a 16p11.2 Del Mouse Model for Neurodevelopmental Disorders.
Joseph F Lynch, Sarah L Ferri, Christopher Angelakos, Hannah Schoch, Thomas Nickl-Jockschat, Arnold Gonzalez, William Timothy O'Brien, Ted Abel. Autism Res 2020
1

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


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

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

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
M T Siu, D T Butcher, A L Turinsky, C Cytrynbaum, D J Stavropoulos, S Walker, O Caluseriu, M Carter, Y Lou, R Nicolson,[...]. Clin Epigenetics 2019
21

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

R-Baclofen Reverses Cognitive Deficits and Improves Social Interactions in Two Lines of 16p11.2 Deletion Mice.
Laura J Stoppel, Tatiana M Kazdoba, Melanie D Schaffler, Anthony R Preza, Arnold Heynen, Jacqueline N Crawley, Mark F Bear. Neuropsychopharmacology 2018
34


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


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
25

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


16p11.2 deletion syndrome mice perseverate with active coping response to acute stress - rescue by blocking 5-HT2A receptors.
Chris M Panzini, Daniel G Ehlinger, Adele M Alchahin, Yueping Guo, Kathryn G Commons. J Neurochem 2017
9

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
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


Altered kynurenine pathway metabolism in autism: Implication for immune-induced glutamatergic activity.
Chai K Lim, Musthafa M Essa, Roberta de Paula Martins, David B Lovejoy, Ayse A Bilgin, Mostafa I Waly, Yahya M Al-Farsi, Marwan Al-Sharbati, Mohammed A Al-Shaffae, Gilles J Guillemin. Autism Res 2016
43