A citation-based method for searching scientific literature

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



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

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

Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.
N B Satkin, B Karaman, S Ergin, H Kayserili, I H Kalelioglu, R Has, A Yuksel, S Basaran. Balkan J Med Genet 2021
0

SULT genetic polymorphisms: physiological, pharmacological and clinical implications.
Katsuhisa Kurogi, Mohammed I Rasool, Fatemah A Alherz, Amal A El Daibani, Ahsan F Bairam, Maryam S Abunnaja, Shin Yasuda, Lauren J Wilson, Ying Hui, Ming-Cheh Liu. Expert Opin Drug Metab Toxicol 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
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

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

Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome.
Jingling Li, Thomas Brickler, Allison Banuelos, Kristopher Marjon, Anna Shcherbina, Sravani Banerjee, Jing Bian, Cyndhavi Narayanan, Irving L Weissman, Sundari Chetty. Proc Natl Acad Sci U S A 2021
1

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

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

Reversal of synaptic and behavioral deficits in a 16p11.2 duplication mouse model via restoration of the GABA synapse regulator Npas4.
Benjamin Rein, Tao Tan, Fengwei Yang, Wei Wang, Jamal Williams, Freddy Zhang, Alea Mills, Zhen Yan. Mol Psychiatry 2020
9

Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review.
Cybil S Stingl, Colleen Jackson-Cook, Natario L Couser. Case Rep Pediatr 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

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

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

CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells.
Valeria Kizner, Maximilian Naujock, Sandra Fischer, Stefan Jäger, Selina Reich, Ines Schlotthauer, Kai Zuckschwerdt, Tobias Geiger, Tobias Hildebrandt, Nathan Lawless,[...]. Mol Neurobiol 2020
6


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

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


TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Jiaqi Liu, Nan Wu, Nan Yang, Kazuki Takeda, Weisheng Chen, Weiyu Li, Renqian Du, Sen Liu, Yangzhong Zhou, Ling Zhang,[...]. Genet Med 2019
24