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229 results

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Page 1
CFAP47 is Implicated in X-Linked Polycystic Kidney Disease.
Mori T, Fujimaru T, Liu C, Patterson K, Yamamoto K, Suzuki T, Chiga M, Sekine A, Ubara Y, Miller DE, Zalusky MPG, Mandai S, Ando F, Mori Y, Kikuchi H, Susa K; University of Washington Center for Rare Disease Research; Chong JX, Bamshad MJ, Tan YQ, Zhang F, Uchida S, Sohara E. Mori T, et al. Among authors: miller de. Kidney Int Rep. 2024 Sep 24;9(12):3580-3591. doi: 10.1016/j.ekir.2024.09.013. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698362 Free PMC article.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: miller de. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Beyond the exome: what's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: miller de. ArXiv [Preprint]. 2023 Jan 18:arXiv:2301.07363v1. ArXiv. 2023. Update in: Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009 PMID: 36713248 Free PMC article. Updated. Preprint.
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind W, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Byers PH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. Stergachis AB, et al. Among authors: miller de. bioRxiv [Preprint]. 2023 Feb 7:2023.02.07.526487. doi: 10.1101/2023.02.07.526487. bioRxiv. 2023. Update in: Neurol Genet. 2023 Aug 8;9(5):e200090. doi: 10.1212/NXG.0000000000200090 PMID: 36798371 Free PMC article. Updated. Preprint.
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, Horike-Pyne M, Lee JC, Donovan TE, Hock DH, Leppig KA, Miller DE, Mirzaa G, Ranchalis J, Raskind WH, Michel CR, Reisdorph R, Schwarze U, Sheppeard S, Strohbehn S, Stroud DA, Sybert VP, Wener MH; University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network; Stergachis AB, Lam CT, Jarvik GP, Dipple KM, Van Hove JLK, Glass IA. Blue EE, et al. Among authors: miller de. Rare. 2024;2:100040. doi: 10.1016/j.rare.2024.100040. Epub 2024 Aug 14. Rare. 2024. PMID: 39421685 Free PMC article.
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.
Marquez J, Cech JN, Paschal CR, Dingmann B, Scott AI, Thies JM, Mills MR, Albert CM, Beck AE, Beckman E, Bonkowski ES, Earl DL, Lam CT, Mefford HC, Merritt JL 2nd, Nelson Z, Ohlsen TJ, Taylor MR, Perlman SJ, Rudzinski ER, Sikes MC, Waligorski N, Wenger TL, Adam MP, Mirzaa GM, Bennett JT, Glass IA, Sternen DL, Miller DE. Marquez J, et al. Among authors: miller de. Genet Med Open. 2024;2:101886. doi: 10.1016/j.gimo.2024.101886. Epub 2024 Aug 9. Genet Med Open. 2024. PMID: 39484203 Free PMC article.
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. Genet Med. 2024. PMID: 38847193
229 results