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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1888 1
1890 2
1894 1
1898 2
1900 1
1902 1
1905 1
1993 3
1994 1
1996 4
1997 2
1998 1
2000 1
2001 4
2002 13
2003 13
2004 12
2005 9
2006 15
2007 16
2008 22
2009 14
2010 11
2011 16
2012 8
2013 10
2014 7
2015 8
2016 16
2017 16
2018 17
2019 12
2020 20
2021 20
2022 21
2023 20
2024 16
2025 30
2026 16

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373 results

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Page 1
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. 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.
GREGoR: accelerating genomics for rare diseases.
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT; GREGoR Partner Members; Carvalho CMB, Gibbs RA, Gifford CA, May S, Miller DE, Rehm HL, Samocha KE, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium. Dawood M, et al. Nature. 2025 Nov;647(8089):331-342. doi: 10.1038/s41586-025-09613-8. Epub 2025 Nov 12. Nature. 2025. PMID: 41224980 Free PMC article.
Guidelines of care for the management of basal cell carcinoma.
Work Group; Invited Reviewers; Kim JYS, Kozlow JH, Mittal B, Moyer J, Olencki T, Rodgers P. Work Group, et al. J Am Acad Dermatol. 2018 Mar;78(3):540-559. doi: 10.1016/j.jaad.2017.10.006. Epub 2018 Jan 10. J Am Acad Dermatol. 2018. PMID: 29331385 Free article.
Dissecting intratumoral myeloid cell plasticity by single cell RNA-seq.
Song Q, Hawkins GA, Wudel L, Chou PC, Forbes E, Pullikuth AK, Liu L, Jin G, Craddock L, Topaloglu U, Kucera G, O'Neill S, Levine EA, Sun P, Watabe K, Lu Y, Alexander-Miller MA, Pasche B, Miller LD, Zhang W. Song Q, et al. Among authors: alexander miller ma. Cancer Med. 2019 Jun;8(6):3072-3085. doi: 10.1002/cam4.2113. Epub 2019 Apr 29. Cancer Med. 2019. PMID: 31033233 Free PMC article.
On the genetic basis of tail-loss evolution in humans and apes.
Xia B, Zhang W, Zhao G, Zhang X, Bai J, Brosh R, Wudzinska A, Huang E, Ashe H, Ellis G, Pour M, Zhao Y, Coelho C, Zhu Y, Miller A, Dasen JS, Maurano MT, Kim SY, Boeke JD, Yanai I. Xia B, et al. Among authors: miller a. Nature. 2024 Feb;626(8001):1042-1048. doi: 10.1038/s41586-024-07095-8. Epub 2024 Feb 28. Nature. 2024. PMID: 38418917 Free PMC article.
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Young RE, Qiao L, Hernan R, Sweetser DA, Waxler JL, Scott DA, Scott TM, Lalani SR, Azamian MS, Rosenfeld JA, Bostwick B, Burrage LC; Undiagnosed Diseases Network; Rodan LH, Russell BE, Dutra-Clarke M, Kruer M, Bakhtiarim S, Darvish H, Amor DJ, Rahman S, Stals K, Bradley L, Byrne S, Tolusso LK, Wong B, Benedict L, Wallis K, Micke K, Colson C, Smol T, Southwick SV, Miller KA, Kush ML, Chorin O, Rothschild A, Wang W, Shen Y, Chung WK. Young RE, et al. Clin Genet. 2026 Mar;109(3):437-457. doi: 10.1111/cge.70057. Epub 2025 Sep 10. Clin Genet. 2026. PMID: 40931319 Free PMC article.
Comprehensive Versus Usual Community Care for First-Episode Psychosis: 2-Year Outcomes From the NIMH RAISE Early Treatment Program.
Kane JM, Robinson DG, Schooler NR, Mueser KT, Penn DL, Rosenheck RA, Addington J, Brunette MF, Correll CU, Estroff SE, Marcy P, Robinson J, Meyer-Kalos PS, Gottlieb JD, Glynn SM, Lynde DW, Pipes R, Kurian BT, Miller AL, Azrin ST, Goldstein AB, Severe JB, Lin H, Sint KJ, John M, Heinssen RK. Kane JM, et al. Among authors: miller al. Am J Psychiatry. 2016 Apr 1;173(4):362-72. doi: 10.1176/appi.ajp.2015.15050632. Epub 2015 Oct 20. Am J Psychiatry. 2016. PMID: 26481174 Free PMC article. Clinical Trial.
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Arriaga TM, Mendez R, Ungar RA, Bonner DE, Matalon DR, Lemire G, Goddard PC, Padhi EM, Miller AM, Nguyen JV, Ma J, Smith KS, Scott SA, Liao L, Ng Z, Marwaha S, Bademci G, Bivona SA, Tekin M; Undiagnosed Diseases Network; Genomics Research to Elucidate the Genetics of Rare Diseases consortium; Bernstein JA, Montgomery SB, O'Donnell-Luria A, Wheeler MT, Ganesh VS. Arriaga TM, et al. Among authors: miller am. Am J Hum Genet. 2025 Oct 2;112(10):2458-2475. doi: 10.1016/j.ajhg.2025.08.018. Epub 2025 Sep 19. Am J Hum Genet. 2025. PMID: 40975062 Free PMC article.
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Kobren SN, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Corona RI, Carvalho Neto GV, Willett J, Berselli M, Ronchetti W, Nelson SF, Martinez-Agosto JA, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR. Kobren SN, et al. Nat Commun. 2025 Aug 7;16(1):7267. doi: 10.1038/s41467-025-61712-2. Nat Commun. 2025. PMID: 40770127 Free PMC article.
373 results