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

45 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Among authors: benson ka. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.
Carton RJ, Doyle MG, Kearney H, Steward CA, Lench NJ, Rogers A, Heinzen EL, McDonald S, Fay J, Lacey A, Beausang A, Cryan J, Brett F, El-Naggar H, Widdess-Walsh P, Costello D, Kilbride R, Doherty CP, Sweeney KJ, O'Brien DF, Henshall DC, Delanty N, Cavalleri GL, Benson KA. Carton RJ, et al. Among authors: benson ka. Epilepsia. 2024 May;65(5):1451-1461. doi: 10.1111/epi.17943. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491957
Familial Variability of Disease Severity in Adult Patients With ADPKD.
Elhassan EAE, O'Kelly P, Collins KE, Teltsh O, Ciurli F, Murray SL, Kennedy C, Madden SF, Benson KA, Cavalleri GL, Conlon PJ. Elhassan EAE, et al. Among authors: benson ka. Kidney Int Rep. 2023 Dec 12;9(3):649-660. doi: 10.1016/j.ekir.2023.12.002. eCollection 2024 Mar. Kidney Int Rep. 2023. PMID: 38481516 Free PMC article.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: benson ka. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Germline mosaicism in a family with MBD5 haploinsufficiency.
Bhatia M, Cavalleri GL, White M, Delanty N, Sweeney BJ, Costello DJ, Greally MT, Benson KA. Bhatia M, et al. Among authors: benson ka. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006253. doi: 10.1101/mcs.a006253. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36396431 Free PMC article.
KBG syndrome mimicking genetic generalized epilepsy.
Murphy MJ, McSweeney N, Cavalleri GL, Greally MT, Benson KA, Costello DJ. Murphy MJ, et al. Among authors: benson ka. Epilepsy Behav Rep. 2022 Apr 20;19:100545. doi: 10.1016/j.ebr.2022.100545. eCollection 2022. Epilepsy Behav Rep. 2022. PMID: 35573061 Free PMC article.
45 results