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Current Opinion in Neurology|September 12, 2009
Emerging genetic therapies to treat Duchenne muscular dystrophyStanley F Nelson, Rachelle H Crosbie, M Carrie Miceli, et al.RNA (New York, N.Y.)|January 19, 2020
Ppp1r1b-lncRNA inhibits PRC2 at myogenic regulatory genes to promote cardiac and skeletal muscle development in mouse and humanXuedong Kang, Yan Zhao, Glen Van Arsdell, et al.Elife|May 23, 2018
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disabilityPoh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, et al.Nature Communications|March 8, 2012
Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistanceHubing Shi, Gatien Moriceau, Xiangju Kong, et al.Nature Genetics|May 29, 2012
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndromeValerie A Arboleda, Hane Lee, Rahul Parnaik, et al.Molecular Genetics & Genomic Medicine|October 25, 2023
A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problemsAtefeh Mir, Yongjun Song, Hane Lee, et al.Annals of Human Genetics|August 17, 2023
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptomAtefeh Mir, Erfan Khorram, Yongjun Song, et al.Human Molecular Genetics|March 13, 2018
Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophyIrina Kramerova, Jorge A Torres, Ascia Eskin, et al.Gastroenterology|June 24, 2008
Identification of EpCAM as the gene for congenital tufting enteropathyMamata Sivagnanam, James L Mueller, Hane Lee, et al.American Journal of Medical Genetics. Part A|January 13, 2021
Expansion of NEUROD2 phenotypes to include developmental delay without seizuresEmily K Mis, Annalisa G Sega, Rebecca H Signer, et al.Pageof 32