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

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations

新发现的ARF3变异体加强了高尔基体碎裂与脑畸形之间的因果关系。

Muto, Valentina; Fasano, Giulia; Radio, Francesca Clementina; Pedalino, Catia; Carvetta, Mattia; Coppola, Simona; Zara, Erika; Petrini, Stefania; Schluth-Bolard, Caroline; Bilbault, Claire; El Chehadeh, Salima; Gérard, Bénédicte; de Saint-Martin, Anne; Koboldt, Daniel C; Sites, Emily; Curry, Cynthia; Herget, Theresia; Höing, Ann-Sophie; von Elsner, Leonie; Barr, Eileen Elizabeth; Hodoglugil, Ugur; Slavotinek, Anne; Tartaglia, Marco; Lauri, Antonella

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

Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results

产后对产前外显子组测序结果进行重新分析后的诊断率

Swanson, Kate; Hodoglugil, Ugur; Sparks, Teresa N; Lianoglou, Billie R; Slavotinek, Anne M; Norton, Mary E

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

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

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

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

作者更正:儿科和产前外显子组测序在多元化人群中的诊断价值

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

Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry

外显子组测序在不同儿科和产前人群中的诊断率与遗传祖先无关

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

Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis

外显子组测序与靶向基因panel在非免疫性胎儿水肿评估中的比较

Norton, Mary E; Ziffle, Jessica Van; Lianoglou, Billie R; Hodoglugil, Ugur; Devine, W Patrick; Sparks, Teresa N

The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing

病理检查和综合表型分析在围产期外显子组测序准确诊断中的应用价值

Swanson, Kate; Norton, Mary E; Lianoglou, Billie R; Jelin, Angie C; Hodoglugil, Ugur; Van Ziffle, Jessica; Devine, Patrick; Sparks, Teresa N