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Plos Genetics|November 7, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signalingRonit Marom, Bo Zhang, Megan E Washington, et al.Genome Medicine|November 2, 2016
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile deathMohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, et al.Nature Communications|June 26, 2015
Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventionsClare A Anstead, Pasi K Korhonen, Neil D Young, et al.Communications Biology|February 4, 2021
DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical associationVanessa Lakis, Rita T Lawlor, Felicity Newell, et al.Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.The Journal of Clinical Investigation|January 10, 2015
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypesBo Yuan, Davut Pehlivan, Ender Karaca, et al.Scientific Reports|February 6, 2015
Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene ConsortiumAli Jalali, E Susan Amirian, Matthew N Bainbridge, et al.American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.Plos Genetics|April 18, 2013
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controlsLi Liu, Aniko Sabo, Benjamin M Neale, et al.American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.Pageof 65