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Publications

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

Rehm HL, Alaimo JT, Aradhya S, et al. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:100947. doi:10.1016/j.gim.2023.100947

Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States.

Hull LE, Flannery K, Kaimal A, Sepucha K, Rehm HL, Haas JS. Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:100946. doi:10.1016/j.gim.2023.100946

Mapping pediatric brain tumors to their origins in the developing cerebellum.

Okonechnikov K, Joshi P, Sepp M, et al. Mapping pediatric brain tumors to their origins in the developing cerebellum. Neuro-oncology. 2023. doi:10.1093/neuonc/noad124

Anamnestic humoral correlates of immunity across SARS-CoV-2 variants of concern.

McNamara RP, Maron JS, Boucau J, et al. Anamnestic humoral correlates of immunity across SARS-CoV-2 variants of concern. mBio. 2023:e0090223. doi:10.1128/mbio.00902-23

Differences in the Circulating Proteome in Individuals with versus without Sickle Cell Trait.

Cai Y, Franceschini N, Surapaneni A, et al. Differences in the Circulating Proteome in Individuals with versus without Sickle Cell Trait. Clinical journal of the American Society of Nephrology : CJASN. 2023. doi:10.2215/CJN.0000000000000257

Robust induction of functional astrocytes using NGN2 expression in human pluripotent stem cells.

Berryer MH, Tegtmeyer M, Binan L, et al. Robust induction of functional astrocytes using NGN2 expression in human pluripotent stem cells. iScience. 2023;26(7):106995. doi:10.1016/j.isci.2023.106995

Heavy-chain CDR3-engineered B cells facilitate in vivo evaluation of HIV-1 vaccine candidates.

He W, Ou T, Skamangas N, et al. Heavy-chain CDR3-engineered B cells facilitate in vivo evaluation of HIV-1 vaccine candidates. Immunity. 2023. doi:10.1016/j.immuni.2023.07.003

Genetic insights into resting heart rate and its role in cardiovascular disease.

van de Vegte YJ, Eppinga RN, van der Ende Y, et al. Genetic insights into resting heart rate and its role in cardiovascular disease. Nature communications. 2023;14(1):4646. doi:10.1038/s41467-023-39521-2

Scientific discovery in the age of artificial intelligence.

Wang H, Fu T, Du Y, et al. Scientific discovery in the age of artificial intelligence. Nature. 2023;620(7972):47-60. doi:10.1038/s41586-023-06221-2

Severe congenital neutropenia due to jagunal homolog 1 () mutation: a case report and literature review.

Thomas S, Guenther G, Rowe JH, et al. Severe congenital neutropenia due to jagunal homolog 1 () mutation: a case report and literature review. Frontiers in pediatrics. 2023;11:1223191. doi:10.3389/fped.2023.1223191