Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

34 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.
Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Rajamani G, et al. Among authors: daugherty al. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. Neurol Clin Pract. 2024. PMID: 38808024
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O'Heir E, O'Leary M, Pais L, Stafki SA, Daugherty AL, Bönnemann CG, Donkervoort S, Haliloğlu G, Kang PB, Ravenscroft G, Laing N, Scott HS, Töpf A, Straub V, Pajusalu S, Õunap K, Tiao G, Rehm HL, O'Donnell-Luria A. Weisburd B, et al. Among authors: daugherty al. medRxiv [Preprint]. 2024 Feb 27:2024.02.11.24302646. doi: 10.1101/2024.02.11.24302646. medRxiv. 2024. PMID: 38405995 Free PMC article. Preprint.
Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.
Alinger JB, Mace EM, Porter JR, Mah-Som AY, Daugherty AL, Li S, Throm AA, Pingel JT, Saucier N, Yao A, Chinn IK, Lupski JR, Ehlayel M, Keller M, Bowman GR, Cooper MA, Orange JS, French AR. Alinger JB, et al. Among authors: daugherty al. J Allergy Clin Immunol. 2024 Jan;153(1):216-229. doi: 10.1016/j.jaci.2023.09.002. Epub 2023 Sep 13. J Allergy Clin Immunol. 2024. PMID: 37714437
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O'Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, Darras BT, Zingariello CD, Pacak CA, Kunkel LM, Kang PB. Bruels CC, et al. Among authors: daugherty al. Ann Clin Transl Neurol. 2022 Aug;9(8):1302-1309. doi: 10.1002/acn3.51612. Epub 2022 Jun 23. Ann Clin Transl Neurol. 2022. PMID: 35734998 Free PMC article.
A host receptor enables type 1 pilus-mediated pathogenesis of Escherichia coli pyelonephritis.
McLellan LK, McAllaster MR, Kim AS, Tóthová Ľ, Olson PD, Pinkner JS, Daugherty AL, Hreha TN, Janetka JW, Fremont DH, Hultgren SJ, Virgin HW, Hunstad DA. McLellan LK, et al. Among authors: daugherty al. PLoS Pathog. 2021 Jan 29;17(1):e1009314. doi: 10.1371/journal.ppat.1009314. eCollection 2021 Jan. PLoS Pathog. 2021. PMID: 33513212 Free PMC article.
34 results