Publications

Found 7 results

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Journal Article

Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Aleem AAbdel, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y et al.. 2021. Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.. Proc Natl Acad Sci U S A. 118(51)

Fazal S, Danzi MC, Xu I, Kobren SNadimpalli, Sunyaev S, Reuter C, Marwaha S, Wheeler M, Dolzhenko E, Lucas F et al.. 2024. RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.. Genome Biol. 25(1):39.

Wuchty S, White AK, Olthof AM, Drake K, Hume AJ, Olejnik J, Aguiar-Pulido V, Mühlberger E, Kanadia RN. 2024. Minor intron-containing genes as an ancient backbone for viral infection? PNAS Nexus. 3(1):pgad479.

Cao X, Tian T, Steele JW, Cabrera RM, Aguiar-Pulido V, Wadhwa S, Bhavani N, Bi P, Gargurevich NH, Hoffman EN et al.. 2020. Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.. Hum Mutat.

Wolujewicz P, Aguiar-Pulido V, Thareja G, Suhre K, Elemento O, Finnell RH, M Ross E. 2024. Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida.. Genet Med Open. 2:101894.

Wolujewicz P, Aguiar-Pulido V, AbdelAleem A, Nair V, Thareja G, Suhre K, Shaw GM, Finnell RH, Elemento O, M Ross E. 2021. Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.. Genet Med.

Han X, Cao X, Aguiar-Pulido V, Yang W, Karki M, Ramirez PAndrea Pim, Cabrera RM, Lin YLinda, Wlodarczyk BJ, Shaw GM et al.. 2022. CIC missense variants contribute to susceptibility for spina bifida.. Hum Mutat.