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 Custom Filters

Results by year

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

Year Number of Results
2024 11
2025 66

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

72 results

Results by year

Filters applied: . Clear all
Page 1
Clinical validation of RNA sequencing for Mendelian disorder diagnostics.
Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Zhao S, et al. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. Am J Hum Genet. 2025. PMID: 40043707 Free PMC article.
Carrier screening and pregnancy.
Peterlin B, Peterlin A. Peterlin B, et al. Best Pract Res Clin Obstet Gynaecol. 2025 Jun;100:102601. doi: 10.1016/j.bpobgyn.2025.102601. Epub 2025 Mar 15. Best Pract Res Clin Obstet Gynaecol. 2025. PMID: 40120478 Free article. Review.
Gene Dosage Sensitivity and Human Genetic Diseases.
Veitia RA, Zschocke J, Birchler JA. Veitia RA, et al. J Inherit Metab Dis. 2025 Jul;48(4):e70058. doi: 10.1002/jimd.70058. J Inherit Metab Dis. 2025. PMID: 40633567 Free PMC article. Review.
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Kingsmore SF, Wright M, Olsen L, Schultz B, Protopsaltis L, Averbuj D, Blincow E, Carroll J, Caylor S, Defay T, Ellsworth K, Feigenbaum A, Gover M, Guidugli L, Hansen C, Van Der Kraan L, Kunard CM, Kwon H, Madhavrao L, Leipzig J, Liang Y, Mardach R, Mowrey WR, Nguyen H, Niemi AK, Oh D, Saad M, Scharer G, Schleit J, Mehtalia SS, Sanford E, Smith LD, Willis MJ, Wigby K, Reimers R. Kingsmore SF, et al. Am J Hum Genet. 2024 Dec 5;111(12):2643-2667. doi: 10.1016/j.ajhg.2024.10.020. Am J Hum Genet. 2024. PMID: 39642868 Free PMC article.
Genetic diseases underlying a spectrum of fetal effusions.
Gulrajani NB, Lianoglou BR, Tick K, Sahin-Hodoglugil NN, Hodoglugil U, Devine P, Van Ziffle J, Norton ME, Sparks TN. Gulrajani NB, et al. Am J Obstet Gynecol. 2025 Oct;233(4):333.e1-333.e11. doi: 10.1016/j.ajog.2025.04.072. Epub 2025 May 8. Am J Obstet Gynecol. 2025. PMID: 40348118 Free PMC article.
Therapeutic Application of mRNA for Genetic Diseases.
Schürmann PJL, van Breda Vriesman SPE, Castro-Alpízar JA, Kooijmans SAA, Nieuwenhuis EES, Schiffelers RM, Fuchs SA. Schürmann PJL, et al. Wiley Interdiscip Rev Nanomed Nanobiotechnol. 2025 May-Jun;17(3):e70019. doi: 10.1002/wnan.70019. Wiley Interdiscip Rev Nanomed Nanobiotechnol. 2025. PMID: 40415711 Free PMC article. Review.
Dried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy.
Nihira H, Nakajima D, Izawa K, Kawashima Y, Shibata H, Konno R, Higashiguchi M, Miyamoto T, Nishitani-Isa M, Hiejima E, Honda Y, Matsubayashi T, Ishihara T, Yashiro M, Iwata N, Ohwada Y, Tomotaki S, Kawai M, Murakami K, Ohnishi H, Ishimura M, Okada S, Yamashita M, Morio T, Hoshino A, Kanegane H, Imai K, Nakamura Y, Nonoyama S, Uchiyama T, Onodera M, Ishikawa T, Kawai T, Takita J, Nishikomori R, Ohara O, Yasumi T. Nihira H, et al. J Allergy Clin Immunol. 2025 Aug;156(2):473-479.e1. doi: 10.1016/j.jaci.2025.04.025. Epub 2025 May 2. J Allergy Clin Immunol. 2025. PMID: 40319946 Free article.
72 results