A citation-based method for searching scientific literature

Philip M Boone, Bo Yuan, Ian M Campbell, Jennifer C Scull, Marjorie A Withers, Brett C Baggett, Christine R Beck, Christine J Shaw, Pawel Stankiewicz, Paolo Moretti, Wendy E Goodwin, Nichole Hein, John K Fink, Moon-Woo Seong, Soo Hyun Seo, Sung Sup Park, Izabela D Karbassi, Sat Dev Batish, Andrés Ordóñez-Ugalde, Beatriz Quintáns, María-Jesús Sobrido, Susanne Stemmler, James R Lupski. Am J Hum Genet 2014
Times Cited: 60



Ryan Mayle, Ian M Campbell, Christine R Beck, Yang Yu, Marenda Wilson, Chad A Shaw, Lotte Bjergbaek, James R Lupski, Grzegorz Ira. Science 2015
Times Cited: 123




List of shared articles



Times cited

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Bo Yuan, Juanita Neira, Shen Gu, Tamar Harel, Pengfei Liu, Ignacio Briceño, Sarah H Elsea, Alberto Gómez, Lorraine Potocki, James R Lupski. Hum Genet 2016
2

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Pengfei Liu, Bo Yuan, Claudia M B Carvalho, Arthur Wuster, Klaudia Walter, Ling Zhang, Tomasz Gambin, Zechen Chong, Ian M Campbell, Zeynep Coban Akdemir,[...]. Cell 2017
43

A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, Ghalia Bhadila, Afnan Faridoun, Tadahiro Mitani, Haowei Du, Jawid M Fatih, Shalini N Jhangiani, Zeynep C Akdemir,[...]. Am J Med Genet A 2021
2

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Claudia M B Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, Ulrika Voss, Gen Nishimura,[...]. Hum Mutat 2018
7

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Janson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W M van Bon, Alper Gezdirici, Elif Yilmaz Gulec, Francis Ramond,[...]. Am J Hum Genet 2018
47

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
274

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Daniel Nilsson, Maria Pettersson, Peter Gustavsson, Alisa Förster, Wolfgang Hofmeister, Josephine Wincent, Vasilios Zachariadis, Britt-Marie Anderlid, Ann Nordgren, Outi Mäkitie,[...]. Hum Mutat 2017
33


Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Xiaofei Song, Christine R Beck, Renqian Du, Ian M Campbell, Zeynep Coban-Akdemir, Shen Gu, Amy M Breman, Pawel Stankiewicz, Grzegorz Ira, Chad A Shaw,[...]. Genome Res 2018
34

Inter-Fork Strand Annealing causes genomic deletions during the termination of DNA replication.
Carl A Morrow, Michael O Nguyen, Andrew Fower, Io Nam Wong, Fekret Osman, Claire Bryer, Matthew C Whitby. Elife 2017
6