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Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C; Members of the Undiagnosed Diseases Network; Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. Zou F, et al. Among authors: schmidt l. J Neurogenet. 2017 Mar-Jun;31(1-2):30-36. doi: 10.1080/01677063.2017.1315417. Epub 2017 May 2. J Neurogenet. 2017. PMID: 28460589 Free PMC article.
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Retterer K, Scuffins J, Schmidt D, Lewis R, Pineda-Alvarez D, Stafford A, Schmidt L, Warren S, Gibellini F, Kondakova A, Blair A, Bale S, Matyakhina L, Meck J, Aradhya S, Haverfield E. Retterer K, et al. Among authors: schmidt l, schmidt d. Genet Med. 2015 Aug;17(8):623-9. doi: 10.1038/gim.2014.160. Epub 2014 Nov 6. Genet Med. 2015. PMID: 25356966 Free article.
Targeting NAD+ Metabolism Vulnerability in FH-Deficient Hereditary Leiomyomatosis and Renal Cell Carcinoma with the novel NAMPT Inhibitor OT-82.
Najera SS, Ricketts CJ, Schmidt LS, Medina JI, Saito K, Ileva L, Brender JR, James AM, Peer CJ, Gouker B, Karim BO, Chernova O, Wells C, Wei MH, Yang Y, Zhang X, Klumpp-Thomas C, Travers J, Chen L, Wilson KM, Issaq SH, Figg WD, Difilippantonio S, Kalen JD, Krishna MC, Thomas CJ, Ceribelli M, Heske CM, Crooks DR, Meier JL. Najera SS, et al. Among authors: schmidt ls. Mol Cancer Ther. 2024 Oct 14. doi: 10.1158/1535-7163.MCT-24-0225. Online ahead of print. Mol Cancer Ther. 2024. PMID: 39397296
Toward a CRISPR-based mouse model of Vhl-deficient clear cell kidney cancer: Initial experience and lessons learned.
Stransky LA, Gao W, Schmidt LS, Bi K, Ricketts CJ, Ramesh V, James A, Difilippantonio S, Ileva L, Kalen JD, Karim B, Jeon A, Morgan T, Warner AC, Turan S, Unite J, Tran B, Choudhari S, Zhao Y, Linn DE, Yun C, Dhandapani S, Parab V, Pinheiro EM, Morris N, He L, Vigeant SM, Pignon JC, Sticco-Ivins M, Signoretti S, Van Allen EM, Linehan WM, Kaelin WG Jr. Stransky LA, et al. Among authors: schmidt ls. Proc Natl Acad Sci U S A. 2024 Oct 8;121(41):e2408549121. doi: 10.1073/pnas.2408549121. Epub 2024 Oct 4. Proc Natl Acad Sci U S A. 2024. PMID: 39365820 Free PMC article.
A structural MRI marker predicts individual differences in impulsivity and classifies patients with behavioral-variant frontotemporal dementia from matched controls.
Godefroy V, Durand A, Simon MC, Weber B, Kable J, Lerman C, Bergström F, Levy R, Batrancourt B, Schmidt L, Plassmann H, Koban L. Godefroy V, et al. Among authors: schmidt l. bioRxiv [Preprint]. 2024 Sep 16:2024.09.12.612706. doi: 10.1101/2024.09.12.612706. bioRxiv. 2024. PMID: 39345385 Free PMC article. Preprint.
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.
Vocke CD, Ricketts CJ, Pack S, Raffeld M, Hewitt S, Lebensohn AP, O'Brien L, Gautam R, Reynolds K, Schmidt LS, Choo K, Kenigsberg A, Gurram S, Chew EY, Nilubol N, Chittaboina P, Merino MJ, Ball MW, Linehan WM. Vocke CD, et al. Among authors: schmidt ls. J Med Genet. 2024 Sep 24:jmg-2024-110202. doi: 10.1136/jmg-2024-110202. Online ahead of print. J Med Genet. 2024. PMID: 39317422 Free article.
2,364 results