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Page 1
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK. Ziegler A, et al. Among authors: hernan r. JAMA. 2025 Jan 21;333(3):232-240. doi: 10.1001/jama.2024.19662. JAMA. 2025. PMID: 39446378
The influence of genetics in congenital diaphragmatic hernia.
Yu L, Hernan RR, Wynn J, Chung WK. Yu L, et al. Among authors: hernan rr. Semin Perinatol. 2020 Feb;44(1):151169. doi: 10.1053/j.semperi.2019.07.008. Epub 2019 Aug 1. Semin Perinatol. 2020. PMID: 31443905 Free PMC article. Review.
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Hays T, Hernan R, Disco M, Griffin EL, Goldshtrom N, Vargas D, Krishnamurthy G, Bomback M, Rehman AU, Wilson AT, Guha S, Phadke S, Okur V, Robinson D, Felice V, Abhyankar A, Jobanputra V, Chung WK. Hays T, et al. Among authors: hernan r. Circ Genom Precis Med. 2023 Oct;16(5):415-420. doi: 10.1161/CIRCGEN.122.004050. Epub 2023 Jul 7. Circ Genom Precis Med. 2023. PMID: 37417234 Free article.
Impact of patient education videos on genetic counseling outcomes after exome sequencing.
Hernan R, Cho MT, Wilson AL, Ahimaz P, Au C, Berger SM, Guzman E, Primiano M, Shaw JE, Ross M, Tabanfar L, Chilton I, Griffin E, Ratner C, Anyane-Yeboa K, Iglesias A, Pisani L, Roohi J, Duong J, Martinez J, Appelbaum P, Klitzman R, Ottman R, Chung WK, Wynn J. Hernan R, et al. Patient Educ Couns. 2020 Jan;103(1):127-135. doi: 10.1016/j.pec.2019.08.018. Epub 2019 Aug 24. Patient Educ Couns. 2020. PMID: 31521424 Free PMC article. Clinical Trial.
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y. Qi H, et al. Among authors: hernan r. PLoS Genet. 2018 Dec 10;14(12):e1007822. doi: 10.1371/journal.pgen.1007822. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30532227 Free PMC article.
Rescuing lung development through embryonic inhibition of histone acetylation.
Stokes G, Li Z, Talaba N, Genthe W, Brix MB, Pham B, Wienhold MD, Sandok G, Hernan R, Wynn J, Tang H, Tabima DM, Rodgers A, Hacker TA, Chesler NC, Zhang P, Murad R, Yuan JX, Shen Y, Chung WK, McCulley DJ. Stokes G, et al. Among authors: hernan r. Sci Transl Med. 2024 Jan 31;16(732):eadc8930. doi: 10.1126/scitranslmed.adc8930. Epub 2024 Jan 31. Sci Transl Med. 2024. PMID: 38295182 Free article.
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Qiao L, Wynn J, Yu L, Hernan R, Zhou X, Duron V, Aspelund G, Farkouh-Karoleski C, Zygumunt A, Krishnan US, Nees S, Khlevner J, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, Soffer S, Schindel D, McCulley DJ, Shen Y, Chung WK. Qiao L, et al. Among authors: hernan r. Genet Med. 2020 Dec;22(12):2020-2028. doi: 10.1038/s41436-020-0908-0. Epub 2020 Jul 28. Genet Med. 2020. PMID: 32719394 Free PMC article.
49 results