Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Impact of integrated translational research on clinical exome sequencing.
Genet Med. 2021 Mar;23(3):498-507. doi: 10.1038/s41436-020-01005-9. Epub 2020 Nov 4.
Genet Med. 2021.
PMID: 33144682
Free article.
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Boczek NJ, Lahner CA, Nguyen TM, Ferber MJ, Hasadsri L, Thorland EC, Niu Z, Gavrilova RH.
Boczek NJ, et al. Among authors: lahner ca.
Am J Med Genet A. 2018 Dec;176(12):2798-2802. doi: 10.1002/ajmg.a.40498. Epub 2018 Oct 22.
Am J Med Genet A. 2018.
PMID: 30345613
Review.
Item in Clipboard
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC.
Blackburn PR, et al. Among authors: lahner ca.
Ann Clin Transl Neurol. 2020 Jun;7(6):1013-1028. doi: 10.1002/acn3.51074. Epub 2020 Jun 9.
Ann Clin Transl Neurol. 2020.
PMID: 32519519
Free PMC article.
Item in Clipboard
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Sörmann J, Schewe M, Proks P, Jouen-Tachoire T, Rao S, Riel EB, Agre KE, Begtrup A, Dean J, Descartes M, Fischer J, Gardham A, Lahner C, Mark PR, Muppidi S, Pichurin PN, Porrmann J, Schallner J, Smith K, Straub V, Vasudevan P, Willaert R, Carpenter EP, Rödström KEJ, Hahn MG, Müller T, Baukrowitz T, Hurles ME, Wright CF, Tucker SJ.
Sörmann J, et al.
Nat Genet. 2022 Oct;54(10):1534-1543. doi: 10.1038/s41588-022-01185-x. Epub 2022 Oct 4.
Nat Genet. 2022.
PMID: 36195757
Free PMC article.
Item in Clipboard
Impact of integrated translational research on clinical exome sequencing.
Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN.
Klee EW, et al. Among authors: lahner ca.
Genet Med. 2023 Feb;25(2):100359. doi: 10.1016/j.gim.2022.12.006.
Genet Med. 2023.
PMID: 36745126
Free article.
No abstract available.
Item in Clipboard
Cite
Cite