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Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Mattioli F, Friðriksdóttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson Á, Sulem P, Halldorsson GH, Melsted P, Guðbjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A. Mattioli F, et al. Among authors: farrow eg. Genome Med. 2025 Apr 14;17(1):38. doi: 10.1186/s13073-025-01463-3. Genome Med. 2025. PMID: 40229899 Free PMC article.
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.
Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung W, Johnston JJ, Barrett C; Genomic Answers for Kids Consortium; Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Smail C, et al. Among authors: farrow eg. medRxiv [Preprint]. 2024 Jan 11:2024.01.10.24301111. doi: 10.1101/2024.01.10.24301111. medRxiv. 2024. Update in: Nat Commun. 2024 Sep 18;15(1):8196. doi: 10.1038/s41467-024-52407-1. PMID: 38260377 Free PMC article. Updated. Preprint.
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.
Wojcik MH, Clark RD, Elias AF, Genetti CA, Madden JA, Simpson D, Golkar L, Zalusky MP, Miller AL, Rodriguez A, Goffena J, Dash CA, Damaraju N, Gibson SB, Storz SH, Anderson Z, Gustafson JA, Thiffault I, Farrow EG, Pastinen T, Lin J, Huang J, Beggs AH, Agrawal PB; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Miller DT, Miller DE. Wojcik MH, et al. Among authors: farrow eg. Res Sq [Preprint]. 2025 Jan 30:rs.3.rs-5811417. doi: 10.21203/rs.3.rs-5811417/v1. Res Sq. 2025. PMID: 39975911 Free PMC article. Preprint.
Rapid and scalable personalized ASO screening in patient-derived organoids.
Means JC, Martinez-Bengochea AL, Louiselle DA, Nemechek JM, Perry JM, Farrow EG, Pastinen T, Younger ST. Means JC, et al. Among authors: farrow eg. Nature. 2025 Feb;638(8049):237-243. doi: 10.1038/s41586-024-08462-1. Epub 2025 Jan 22. Nature. 2025. PMID: 39843740 Free PMC article.
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.
Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung WA, Johnston JJ, Barrett C; Genomic Answers for Kids Consortium; Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Smail C, et al. Among authors: farrow eg. Nat Commun. 2024 Sep 18;15(1):8196. doi: 10.1038/s41467-024-52407-1. Nat Commun. 2024. PMID: 39294130 Free PMC article.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. Among authors: farrow eg. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?
Saunders CJ, Brunelli L, Deem MJ, Farrow EG, Hegde M, Stark Z. Saunders CJ, et al. Among authors: farrow eg. Clin Chem. 2024 Apr 3;70(4):577-583. doi: 10.1093/clinchem/hvae025. Clin Chem. 2024. PMID: 38565214 Free PMC article. No abstract available.
60 results