日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

犹他州NeoSeq项目:一项旨在促进新生儿重症监护病房基因组诊断的多学科合作项目

Malone Jenkins, Sabrina; Palmquist, Rachel N; Moore, Barry; Boyden, Steven E; Nicholas, Thomas J; Bayrak-Toydemir, Pinar; Mao, Rong; Farrell, J Andrew R; Holt, Carson H; Rynearson, Shawn G; Solorzano, Chelsea M; Ward, Alistair; Best, D Hunter; Al-Sweel, Najla; Bentley, Dawn L; Brunelli, Luca; Chow, Clement Y; Close, Devin W; Cormier, Michael J; Deshotel, Malia J; Durtschi, Jacob; Eide, Erik J; Floyd, Luaiva; Fredrickson, Eric K; Fulmer, Makenzie L; Hernandez, Edgar J; Kapron, Ashley L; Karren, Mary Anne; Lewis, Robert G; Miller, Christine E; Murtaugh, L Charles; Nicholson, Kelsey E; Noble, Katherine; O'Fallon, Brendan D; O'Shea, John M; Pattison, David C; Pedersen, Brent S; Petersen, Brandy J; Peterson, Bennet D; Pizzo, Lucilla; Reynolds, Hayley M; Rindler, Paul; Torr, Carrie B; Wen, Ting; Yost, H Joseph; Zhao, Jian; Yandell, Mark; Marth, Gabor T; Quinlan, Aaron R; Carey, John C; Shayota, Brian J; Tristani-Firouzi, Martin; Bonkowsky, Joshua L

Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

通过全基因组测序进行全面的变异调用,发现了一种复杂的倒位,可破坏家族性先天性膈疝中的 ZFPM2

Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak-Toydemir, Christine E Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J Hernandez, Michael J Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L Bonkowsky, Martin Tri

Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging

人类 MLH1/3 变异导致非整倍性、流产和过早生殖衰老

Priti Singh, Robert Fragoza, Cecilia S Blengini, Tina N Tran, Gianno Pannafino, Najla Al-Sweel, Kerry J Schimenti, Karen Schindler, Eric A Alani, Haiyuan Yu, John C Schimenti

Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

Int22h1/Int22h2介导的Xq28重复综合征:新生重复、产前诊断及其他表型特征

Ballout, Rami A; Dickerson, Cheryl; Wick, Myra J; Al-Sweel, Najla; Openshaw, Amanda S; Srivastava, Siddharth; Swanson, Lindsay C; Bramswig, Nuria C; Kuechler, Alma; Hong, Bo; Fleming, Leah R; Curry, Kathryn; Robertson, Stephen P; Andersen, Erica F; El-Hattab, Ayman W

Incompatibilities in Mismatch Repair Genes MLH1-PMS1 Contribute to a Wide Range of Mutation Rates in Human Isolates of Baker's Yeast

错配修复基因 MLH1-PMS1 的不兼容性导致人类面包酵母分离株的突变率范围广泛

Vandana Raghavan, Duyen T Bui, Najla Al-Sweel, Anne Friedrich, Joseph Schacherer, Charles F Aquadro, Eric Alani

mlh3 mutations in baker's yeast alter meiotic recombination outcomes by increasing noncrossover events genome-wide

面包酵母中的mlh3突变通过增加全基因组范围内的非交叉事件来改变减数分裂重组结果。

Al-Sweel, Najla; Raghavan, Vandana; Dutta, Abhishek; Ajith, V P; Di Vietro, Luigi; Khondakar, Nabila; Manhart, Carol M; Surtees, Jennifer A; Nishant, K T; Alani, Eric

Carboxypeptidase E promotes cancer cell survival, but inhibits migration and invasion

羧肽酶E促进癌细胞存活,但抑制其迁移和侵袭。

Murthy, Saravana R K; Dupart, Evan; Al-Sweel, Najla; Chen, Alexander; Cawley, Niamh X; Loh, Y Peng