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Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM. Bowling KM, et al. Among authors: lamb ne. Genome Med. 2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1. Genome Med. 2017. PMID: 28554332 Free PMC article.
Systematic reanalysis of genomic data improves quality of variant interpretation.
Hiatt SM, Amaral MD, Bowling KM, Finnila CR, Thompson ML, Gray DE, Lawlor JMJ, Cochran JN, Bebin EM, Brothers KB, East KM, Kelley WV, Lamb NE, Levy SE, Lose EJ, Neu MB, Rich CA, Simmons S, Myers RM, Barsh GS, Cooper GM. Hiatt SM, et al. Among authors: lamb ne. Clin Genet. 2018 Jul;94(1):174-178. doi: 10.1111/cge.13259. Epub 2018 May 10. Clin Genet. 2018. PMID: 29652076 Free PMC article.
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
Sanders M, Lawlor JMJ, Li X, Schuen JN, Millard SL, Zhang X, Buck L, Grysko B, Uhl KL, Hinds D, Stenger CL, Morris M, Lamb N, Levy H, Bupp C, Prokop JW. Sanders M, et al. Hum Genet. 2021 Mar;140(3):423-439. doi: 10.1007/s00439-020-02211-w. Epub 2020 Jul 30. Hum Genet. 2021. PMID: 32734384 Free PMC article.
Computational and Experimental Analysis of Genetic Variants.
Prokop JW, Jdanov V, Savage L, Morris M, Lamb N, VanSickle E, Stenger CL, Rajasekaran S, Bupp CP. Prokop JW, et al. Compr Physiol. 2022 Mar 29;12(2):3303-3336. doi: 10.1002/cphy.c210012. Compr Physiol. 2022. PMID: 35578967
SARS-CoV2 (COVID-19) Structural/Evolution Dynamicome: Insights into functional evolution and human genomics.
Gupta R, Charron J, Stenger CL, Painter J, Steward H, Cook TW, Faber W, Frisch A, Lind E, Bauss J, Li X, Sirpilla O, Soehnlen X, Underwood A, Hinds D, Morris M, Lamb N, Carcillo JA, Bupp C, Uhal BD, Rajasekaran S, Prokop JW. Gupta R, et al. bioRxiv [Preprint]. 2020 May 15:2020.05.15.098616. doi: 10.1101/2020.05.15.098616. bioRxiv. 2020. PMID: 32511397 Free PMC article. Updated. Preprint.
33 results