A citation-based method for searching scientific literature

Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum, Sharon E Plon, Erin M Ramos, Stephen T Sherry, Michael S Watson. N Engl J Med 2015
Times Cited: 502



Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
Times Cited: 3075




List of shared articles



Times cited

Germline testing for homologous recombination repair genes-opportunities and challenges.
Steffen Hirsch, Laura Gieldon, Christian Sutter, Nicola Dikow, Christian P Schaaf. Genes Chromosomes Cancer 2021
2


The burden of rare damaging variants in hereditary atypical parkinsonism genes is increased in patients with Parkinson's disease.
Yun Joong Kim, Jinwoo Lee, Nan Young Kim, SangKyoon Hong, Yoon Shin Cho, Jeehee Yoon. Neurobiol Aging 2021
0

Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm.
Valentina Favalli, Giulia Tini, Emanuele Bonetti, Gianluca Vozza, Alessandro Guida, Sara Gandini, Pier Giuseppe Pelicci, Luca Mazzarella. Am J Hum Genet 2021
2

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.
Suzanne E de Bruijn, Zeinab Fadaie, Frans P M Cremers, Hannie Kremer, Susanne Roosing. Int J Mol Sci 2021
1


Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals.
Huixin Xu, Qi Zhen, Mingzhou Bai, Lin Fang, Yong Zhang, Bao Li, Huiyao Ge, Sunjin Moon, Weiwei Chen, Wenqing Fu,[...]. Genome Res 2021
0

A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows: A Report of the Association for Molecular Pathology Training and Education Committee.
Jason N Rosenbaum, Anna B Berry, Alanna J Church, Kristy Crooks, Jeffrey R Gagan, Dolores L√≥pez-Terrada, John D Pfeifer, Hanna Rennert, Iris Schrijver, Anthony N Snow,[...]. J Mol Diagn 2021
0

Decoding disease: from genomes to networks to phenotypes.
Aaron K Wong, Rachel S G Sealfon, Chandra L Theesfeld, Olga G Troyanskaya. Nat Rev Genet 2021
0

X-CNV: genome-wide prediction of the pathogenicity of copy number variations.
Li Zhang, Jingru Shi, Jian Ouyang, Riquan Zhang, Yiran Tao, Dongsheng Yuan, Chengkai Lv, Ruiyuan Wang, Baitang Ning, Ruth Roberts,[...]. Genome Med 2021
0

Assigning function to SNPs: Considerations when interpreting genetic variation.
Tayaza Fadason, Sophie Farrow, Sreemol Gokuladhas, Evgeniia Golovina, Denis Nyaga, Justin M O'Sullivan, William Schierding. Semin Cell Dev Biol 2021
0

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Petros Kountouris, Coralea Stephanou, Carsten W Lederer, Joanne Traeger-Synodinos, Celeste Bento, Cornelis L Harteveld, Eirini Fylaktou, Tamara T Koopmann, Hashim Halim-Fikri, Kyriaki Michailidou,[...]. Hum Mutat 2021
0

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Lu Qiao, Le Xu, Lan Yu, Julia Wynn, Rebecca Hernan, Xueya Zhou, Christiana Farkouh-Karoleski, Usha S Krishnan, Julie Khlevner, Aliva De,[...]. Am J Hum Genet 2021
0