A citation-based method for searching scientific literature

Katherine S Pollard, Melissa J Hubisz, Kate R Rosenbloom, Adam Siepel. Genome Res 2010
Times Cited: 1252



Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
Times Cited: 8795




List of shared articles



Times cited

Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5.
Ahmed Farhan, Frank Yuan, Elizabeth Partan, Clifford R Weiss. Am J Med Genet A 2022
2

A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
Amjad Khan, Anne Molitor, Sylvain Mayeur, Gaoqun Zhang, Bruno Rinaldi, Béatrice Lannes, Benoît Lhermitte, Muhammad Umair, Stefan T Arold, Sylvie Friant,[...]. Mov Disord 2022
0

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
Mathieu Quinodoz, Virginie G Peter, Katarina Cisarova, Beryl Royer-Bertrand, Peter D Stenson, David N Cooper, Sheila Unger, Andrea Superti-Furga, Carlo Rivolta. Am J Hum Genet 2022
2

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4).
G Perez-Siles, M Ellis, A Ashe, B Grosz, S Vucic, M C Kiernan, K A Morris, S W Reddel, M L Kennerson. Front Genet 2022
0

DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.
Fengxiao Bu, Mingjun Zhong, Qinyi Chen, Yumei Wang, Xia Zhao, Qian Zhang, Xiarong Li, Kevin T Booth, Hela Azaiez, Yu Lu,[...]. Hum Genet 2022
0

A multi-dimensional integrative scoring framework for predicting functional variants in the human genome.
Xihao Li, Godwin Yung, Hufeng Zhou, Ryan Sun, Zilin Li, Kangcheng Hou, Martin Jinye Zhang, Yaowu Liu, Theodore Arapoglou, Chen Wang,[...]. Am J Hum Genet 2022
1

Machine learning methods for prediction of cancer driver genes: a survey paper.
Renan Andrades, Mariana Recamonde-Mendoza. Brief Bioinform 2022
0

PHACT: Phylogeny-Aware Computing of Tolerance for Missense Mutations.
Nurdan Kuru, Onur Dereli, Emrah Akkoyun, Aylin Bircan, Oznur Tastan, Ogun Adebali. Mol Biol Evol 2022
0

Innovative in Silico Approaches for Characterization of Genes and Proteins.
Gh Rasool Bhat, Itty Sethi, Bilal Rah, Rakesh Kumar, Dil Afroze. Front Genet 2022
0

Multiple primary malignances managed with surgical excision: a case report with next generation sequencing analysis.
Chiara Romano, Sandra Di Gregorio, Maria Stella Pennisi, Elena Tirrò, Giuseppe Broggi, Rosario Caltabiano, Livia Manzella, Martino Ruggieri, Paolo Vigneri, Antonio Di Cataldo. Mol Biol Rep 2022
0


Eph and Ephrin Variants in Malaysian Neural Tube Defect Families.
Siti Waheeda Mohd-Zin, Amelia Cheng Wei Tan, Wahib M Atroosh, Meow-Keong Thong, Abu Bakar Azizi, Nicholas D E Greene, Noraishah Mydin Abdul-Aziz. Genes (Basel) 2022
0

Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.
Il Bin Kim, Taeyeop Lee, Junehawk Lee, Jonghun Kim, Suho Lee, In Gyeong Koh, Jae Hyun Kim, Joon-Yong An, Hyunseong Lee, Woo Kyeong Kim,[...]. Mol Psychiatry 2022
0

Accurate assignment of disease liability to genetic variants using only population data.
Joseph M Collaco, Karen S Raraigh, Joshua Betz, Melis Atalar Aksit, Nenad Blau, Jordan Brown, Harry C Dietz, Gretchen MacCarrick, Lawrence M Nogee, Molly B Sheridan,[...]. Genet Med 2022
0

Overcoming constraints on the detection of recessive selection in human genes from population frequency data.
Daniel J Balick, Daniel M Jordan, Shamil Sunyaev, Ron Do. Am J Hum Genet 2022
0

A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Siwei Chen, Yuan Liu, Yingying Zhang, Shayne D Wierbowski, Steven M Lipkin, Xiaomu Wei, Haiyuan Yu. Genome Res 2022
1

Variant pathogenic prediction by locus variability: the importance of the current picture of evolution.
José Luis Cabrera-Alarcon, Jorge García Martinez, José Antonio Enríquez, Fátima Sánchez-Cabo. Eur J Hum Genet 2022
1

A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay.
Xuechao Zhao, Yuting Zheng, Li Wang, Yanhong Wang, Shiyue Mei, Xiangdong Kong. Mol Genet Genomic Med 2022
1

Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift.
Alina Urnikyte, Laura Pranckeniene, Ingrida Domarkiene, Svetlana Dauengauer-Kirliene, Alma Molyte, Ausra Matuleviciene, Ingrida Pilypiene, Vaidutis Kučinskas. Genes (Basel) 2022
0

Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.
Bushra Gorsi, Edgar Hernandez, Marvin Barry Moore, Mika Moriwaki, Clement Y Chow, Emily Coelho, Elaine Taylor, Claire Lu, Amanda Walker, Philippe Touraine,[...]. J Clin Endocrinol Metab 2022
1

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Emmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, Anne Moreau de Bellaing, Wei Xuan Goh, Yan Ling Chong, Anja Beckers, Darshini Kannesan, Guillaume Louvel, Priyanka Anujan,[...]. Nat Genet 2022
3

A comparison on predicting functional impact of genomic variants.
Dong Wang, Jie Li, Yadong Wang, Edwin Wang. NAR Genom Bioinform 2022
1

Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.
Cengiz Karakaya, Aylin Pelin Çil, Kaya Bilguvar, Tunahan Çakir, Mete Hakan Karalok, Recep Onur Karabacak, Ahmet Okay Caglayan. J Obstet Gynaecol Res 2022
1

Computational Resources for the Interpretation of Variations in Cancer.
Grete Francesca Privitera, Salvatore Alaimo, Alfredo Ferro, Alfredo Pulvirenti. Adv Exp Med Biol 2022
0

Machine-learning of complex evolutionary signals improves classification of SNVs.
Sapir Labes, Doron Stupp, Naama Wagner, Idit Bloch, Michal Lotem, Ephrat L Lahad, Paz Polak, Tal Pupko, Yuval Tabach. NAR Genom Bioinform 2022
0

Genome interpretation using in silico predictors of variant impact.
Panagiotis Katsonis, Kevin Wilhelm, Amanda Williams, Olivier Lichtarge. Hum Genet 2022
0