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Year Number of Results
2012 1
2014 1
2015 1
2016 4
2017 9
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2019 27
2020 11
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2022 4
2023 5
2024 3

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84 results

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Page 1
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
ETV4-Dependent Transcriptional Plasticity Maintains MYC Expression and Results in IMiD Resistance in Multiple Myeloma.
Neri P, Barwick BG, Jung D, Patton JC, Maity R, Tagoug I, Stein CK, Tilmont R, Leblay N, Ahn S, Lee H, Welsh SJ, Riggs DL, Stong N, Flynt E, Thakurta A, Keats JJ, Lonial S, Bergsagel PL, Boise LH, Bahlis NJ. Neri P, et al. Among authors: stong n. Blood Cancer Discov. 2024 Jan 8;5(1):56-73. doi: 10.1158/2643-3230.BCD-23-0061. Blood Cancer Discov. 2024. PMID: 37934799 Free PMC article.
Multiomic Analysis Identifies a High-Risk Metabolic and TME Depleted Signature that Predicts Early Clinical Failure in DLBCL.
Wenzl K, Stokes M, Novak JP, Bock AM, Khan S, Hopper MA, Krull JE, Dropik AR, Walker JS, Sarangi V, Mwangi R, Ortiz M, Stong N, Huang CC, Maurer MJ, Rimsza L, Link BK, Slager SL, Asmann Y, Mondello P, Morin R, Ansell SM, Habermann TM, Feldman AL, King RL, Nowakowski G, Cerhan JR, Gandhi AK, Novak AJ. Wenzl K, et al. Among authors: stong n. medRxiv [Preprint]. 2023 Jun 10:2023.06.07.23290748. doi: 10.1101/2023.06.07.23290748. medRxiv. 2023. PMID: 37333387 Free PMC article. Preprint.
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P; Undiagnosed Diseases Network; Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. Barish S, et al. Among authors: stong n. Hum Mol Genet. 2022 Aug 25;31(17):2934-2950. doi: 10.1093/hmg/ddac085. Hum Mol Genet. 2022. PMID: 35405010 Free PMC article.
Ancestry adjustment improves genome-wide estimates of regional intolerance.
Hayeck TJ, Stong N, Baugh E, Dhindsa R, Turner TN, Malakar A, Mosbruger TL, Shaw GT, Duan Y, Ionita-Laza I, Goldstein D, Allen AS. Hayeck TJ, et al. Among authors: stong n. Genetics. 2022 May 31;221(2):iyac050. doi: 10.1093/genetics/iyac050. Genetics. 2022. PMID: 35385101 Free PMC article.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K. Ritter AL, et al. Among authors: stong n. Genet Med. 2022 Jun;24(6):1227-1237. doi: 10.1016/j.gim.2022.02.005. Epub 2022 Mar 14. Genet Med. 2022. PMID: 35300924 Free PMC article.
84 results