A citation-based method for searching scientific literature

Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi, Lisa A Cannon-Albright, Craig C Teerlink, Janet L Stanford, William B Isaacs, Jianfeng Xu, Kathleen A Cooney, Ethan M Lange, Johanna Schleutker, John D Carpten, Isaac J Powell, Olivier Cussenot, Geraldine Cancel-Tassin, Graham G Giles, Robert J MacInnis, Christiane Maier, Chih-Lin Hsieh, Fredrik Wiklund, William J Catalona, William D Foulkes, Diptasri Mandal, Rosalind A Eeles, Zsofia Kote-Jarai, Carlos D Bustamante, Daniel J Schaid, Trevor Hastie, Elaine A Ostrander, Joan E Bailey-Wilson, Predrag Radivojac, Stephen N Thibodeau, Alice S Whittemore, Weiva Sieh. Am J Hum Genet 2016
Times Cited: 541



Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
Times Cited: 873




List of shared articles



Times cited

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Matthew D Gianferante, Marcin W Wlodarski, Evangelia Atsidaftos, Lydie Da Costa, Polyxeni Delaporta, Jason E Farrar, Frederick D Goldman, Maryam Hussain, Antonis Kattamis, Thierry Leblanc,[...]. Haematologica 2021
1

Comprehensive fundamental somatic variant calling and quality management strategies for human cancer genomes.
Xiaoyu He, Shanyu Chen, Ruilin Li, Xinyin Han, Zhipeng He, Danyang Yuan, Shuying Zhang, Xiaohong Duan, Beifang Niu. Brief Bioinform 2021
4

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.
Esra Yıldız Bölükbaşı, Rana Muhammad Kamran Shabbir, Sajid Malik, Aslıhan Tolun. J Hum Genet 2021
0


Prediction of driver variants in the cancer genome via machine learning methodologies.
Mark F Rogers, Tom R Gaunt, Colin Campbell. Brief Bioinform 2021
0

MobiDetails: online DNA variants interpretation.
David Baux, Charles Van Goethem, Olivier Ardouin, Thomas Guignard, Anne Bergougnoux, Michel Koenig, Anne-Françoise Roux. Eur J Hum Genet 2021
2


Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.
Karen I Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E Blacque. Dis Model Mech 2021
2

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E Babcock, Dewi P Bakker, Katy Barwick, Michaela V Bonfert, Carsten G Bönnemann, Eva H Brilstra,[...]. Genet Med 2021
0

Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.
Teresa Sullivan, Eswary Thirthagiri, Chan-Eng Chong, Stacey Stauffer, Susan Reid, Eileen Southon, Tiara Hassan, Aravind Ravichandran, Eldarina Wijaya, Joanna Lim,[...]. Hum Mutat 2021
1

Germline Variation and Somatic Alterations in Ewing Sarcoma.
Mitchell J Machiela, Thomas G P Grünewald. Methods Mol Biol 2021
0

Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.
Yingwei Wang, Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Qingjiong Zhang. Am J Ophthalmol 2021
0

Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.
Hualei Luo, Xueshan Xiao, Shiqiang Li, Wenmin Sun, Zhen Yi, Panfeng Wang, Qingjiong Zhang. Exp Eye Res 2021
5

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Xiaoyan Jia, Bala Bharathi Burugula, Victor Chen, Rosemary M Lemons, Sajini Jayakody, Mariam Maksutova, Jacob O Kitzman. Am J Hum Genet 2021
8

Strategies to Identify Genetic Variants Causing Infertility.
Xinbao Ding, John C Schimenti. Trends Mol Med 2021
0

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rebecca A Rojas, Anna A Kutateladze, Lacey Plummer, Maria Stamou, David L Keefe, Kathyrn B Salnikov, Angela Delaney, Janet E Hall, Ruslan Sadreyev, Fei Ji,[...]. Genet Med 2021
2

From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration.
Maria F Palafox, Heta S Desai, Valerie A Arboleda, Keriann M Backus. Mol Syst Biol 2021
7

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Mullin Ho Chung Yu, Marcus Chun Yin Chan, Claudia Ching Yan Chung, Andrew Wang Tat Li, Chara Yin Wa Yip, Christopher Chun Yu Mak, Jeffrey Fong Ting Chau, Mianne Lee, Jasmine Lee Fong Fung, Mandy Ho Yin Tsang,[...]. PLoS Genet 2021
1

PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes.
Gabriella de M Abreu, Roberta M Tarantino, Ana Carolina P da Fonseca, Ritiele B de Souza, Camila A P D Soares, Pedro H Cabello, Melanie Rodacki, Lenita Zajdenverg, Verônica M Zembrzuski, Mário Campos Junior. Eur J Med Genet 2021
0

Inhibition of HECT E3 ligases as potential therapy for COVID-19.
Giuseppe Novelli, Jing Liu, Michela Biancolella, Tonino Alonzi, Antonio Novelli, J J Patten, Dario Cocciadiferro, Emanuele Agolini, Vito Luigi Colona, Barbara Rizzacasa,[...]. Cell Death Dis 2021
7

Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.
Xueqing Li, Xueshan Xiao, Shiqiang Li, Wenmin Sun, Panfeng Wang, Qingjiong Zhang. Asia Pac J Ophthalmol (Phila) 2021
0

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
Gregory McInnes, Andrew G Sharo, Megan L Koleske, Julia E H Brown, Matthew Norstad, Aashish N Adhikari, Sheng Wang, Steven E Brenner, Jodi Halpern, Barbara A Koenig,[...]. Am J Hum Genet 2021
2

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Jan H Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A Klotz, Thomas Bast, Tobias Dietel, G Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl,[...]. Int J Mol Sci 2021
1

Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
Ana Ching-López, Luis Javier Martinez-Gonzalez, Luisa Arrabal, Jorge Sáiz, Ángela Gavilán, Coral Barbas, Jose Antonio Lorente, Susana Roldán, Maria José Sánchez, Purificacion Gutierrez-Ríos. Int J Mol Sci 2021
0

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
Maxim Verlee, Aude Beyens, Alper Gezdirici, Elif Yilmaz Gulec, Lore Pottie, Silke De Feyter, Michiel Vanhooydonck, Piyanoot Tapaneeyaphan, Sofie Symoens, Bert Callewaert. Genes (Basel) 2021
0

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
Xi Luo, Kelly Schoch, Sharayu V Jangam, Venkata Hemanjani Bhavana, Hillary K Graves, Sujay Kansagra, Joan M Jasien, Nicholas Stong, Boris Keren, Cyril Mignot,[...]. Hum Mol Genet 2021
2

Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing.
Natália D Linhares, Piotr Wilk, Elżbieta Wątor, Meire A Tostes, Manfred S Weiss, Sergio D J Pena. Genet Mol Biol 2021
0

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.
Jimmaline J Hardy, Margot J Wyrwoll, William Mcfadden, Agnieszka Malcher, Nadja Rotte, Nijole C Pollock, Sarah Munyoki, Maria V Veroli, Brendan J Houston, Miguel J Xavier,[...]. Hum Genet 2021
1