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

Genetic diseases underlying a spectrum of fetal effusions

导致一系列胎儿积液的遗传性疾病

Gulrajani, Natalie B; Lianoglou, Billie R; Tick, Katie; Sahin-Hodoglugil, Nuriye N; Hodoglugil, Ugur; Devine, Patrick; Van Ziffle, Jessica; Norton, Mary E; Sparks, Teresa N

Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results

针对不同及服务不足的儿科人群进行基因组测序:家长对结果的理解、不确定性、社会心理影响及个人实用性的看法

Biesecker, Barbara B; Ackerman, Sara L; Brothers, Kyle B; East, Kelly M; Foreman, Ann Katherine M; Hindorff, Lucia A; Horowitz, Carol R; Jarvik, Gail P; Knight, Sara J; Leo, Michael C; Patrick, Donald L; Rini, Christine; Robinson, Jill O; Sahin-Hodoglugil, Nuriye Nalan; Slavotinek, Anne; Suckiel, Sabrina A; Veenstra, David L; Zinberg, Randi E; Hunter, Jessica Ezzell

When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research

当家庭弥合研究与临床之间的鸿沟:对基因组研究中级联筛查价值观的探索

Bonini, Katherine E; Desrosiers-Battu, Lauren R; Foreman, Ann Katherine M; Sahin-Hodoglugil, Nuriye N; Majumder, Mary A; Finnila, Candice R; Kraft, Stephanie A; Amendola, Laura M; Kenny, Eimear E; Fullerton, Stephanie M; Ackerman, Sara L; Wilfond, Benjamin S; McGuire, Amy L; Smith, Hadley Stevens

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

DEGS1 中的一种新型剪接位点变异导致异常剪接和 DEGS1 酶活性丧失,这是一个已解决的 VUS

Beale Holly C, Tse Victor, Lee Joanna Y, Akutagawa Jon, Mavura Yusuph, Saint-John Brandon, Cheney Allison, Mulligan Dennis R, Chacaltana Guillermo, Gutierrez Martin, Tenney Jessica, Shieh Joseph T, Martin Pierre-Marie, Yip Tiffany, Hodoglugil Ugur, Fay Alex J, Brooks Angela N, Van Ziffle Jessica, Stone Michael D, Risch Neil, Sanford Jeremy R, Devine Patrick, Saba Julie D, Vaske Olena M, Slavotinek Anne

The Parent PrU: A measure to assess personal utility of pediatric genomic results

家长效用值 (Parent PrU):一种评估儿科基因组结果个人效用的指标

Turbitt, Erin; Kohler, Jennefer N; Brothers, Kyle B; Outram, Simon M; Rini, Christine; Sahin-Hodoglugil, Nuriye; Leo, Michael C; Biesecker, Barbara B

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population

遗传祖源和外显子组测序在多样化人群中的诊断价值

Mavura, Yusuph; Sahin-Hodoglugil, Nuriye; Hodoglugil, Ugur; Kvale, Mark; Martin, Pierre-Marie; Van Ziffle, Jessica; Devine, W Patrick; Ackerman, Sara L; Koenig, Barbara A; Kwok, Pui-Yan; Norton, Mary E; Slavotinek, Anne; Risch, Neil

Patient understanding of prenatal exome sequencing

患者对产前外显子组测序的理解

Swanson, Kate; Norton, Mary E; Ackerman, Sara L; Lianoglou, Billie R; Sahin-Hodoglugil, Nuriye N; Sparks, Teresa N

Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies

对于面临不明原因胎儿异常的准父母来说,产前外显子组测序值得信赖

Rothschild, Harriet T; Lianoglou, Billie R; Sahin Hodoglugil, Nuriye N; Tick, Katie; Brown, Julia E H; Sparks, Teresa N

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

家长报告的儿科基因组测序的临床应用价值

Smith, Hadley Stevens; Ferket, Bart S; Gelb, Bruce D; Hindorff, Lucia; Ferar, Kathleen D; Norton, Mary E; Sahin-Hodoglugil, Nuriye; Slavotinek, Anne; Lich, Kristen Hasmiller; Berg, Jonathan S; Russell, Heidi V

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

不同人群中儿科和产前外显子组测序的诊断价值

Slavotinek, Anne; Rego, Shannon; Sahin-Hodoglugil, Nuriye; Kvale, Mark; Lianoglou, Billie; Yip, Tiffany; Hoban, Hannah; Outram, Simon; Anguiano, Beatrice; Chen, Flavia; Michelson, Jeremy; Cilio, Roberta M; Curry, Cynthia; Gallagher, Renata C; Gardner, Marisa; Kuperman, Rachel; Mendelsohn, Bryce; Sherr, Elliott; Shieh, Joseph; Strober, Jonathan; Tam, Allison; Tenney, Jessica; Weiss, William; Whittle, Amy; Chin, Garrett; Faubel, Amanda; Prasad, Hannah; Mavura, Yusuph; Van Ziffle, Jessica; Devine, W Patrick; Hodoglugil, Ugur; Martin, Pierre-Marie; Sparks, Teresa N; Koenig, Barbara; Ackerman, Sara; Risch, Neil; Kwok, Pui-Yan; Norton, Mary E