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

Prospective Genomic Profiling of Consecutive Meningiomas

连续性脑膜瘤的前瞻性基因组分析

Nguyen, Minh P; Mirchia, Kanish; Braman, Brooke C; Morshed, Ramin A; Oberheim-Bush, Nancy Ann; Arum, Zora; Villanueva-Meyer, Javier E; Chen, William C; Van Ziffle, Jessica; Rajkovic, Aleksandar; Chang, Susan M; Devine, Walter Patrick; Perry, Arie; Raleigh, David R

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

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

Epithelioid Angiomyolipoma With Prominent Papillary Architecture Mimicking Renal Cell Carcinoma: A Case Report

具有显著乳头状结构的上皮样血管平滑肌脂肪瘤酷似肾细胞癌:病例报告

Xiao, Andrew; Van Ziffle, Jessica; Chan, Emily

Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs

新的 SOX10 插入/缺失突变通过髓鞘形成基因程序的转录激活受损导致神经鞘瘤

Erik A Williams, Ajay Ravindranathan, Rohit Gupta, Nicholas O Stevers, Abigail K Suwala, Chibo Hong, Somang Kim, Jimmy Bo Yuan, Jasper Wu, Jairo Barreto, Calixto-Hope G Lucas, Emily Chan, Melike Pekmezci, Philip E LeBoit, Thaddeus Mully, Arie Perry, Andrew Bollen, Jessica Van Ziffle, W Patrick Devin

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

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

Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition

儿童双丘脑胶质瘤具有独特的表观遗传特征和频繁的 EGFR 外显子 20 插入,因此对靶向激酶抑制具有潜在的敏感性

Gourish Mondal, Julieann C Lee, Ajay Ravindranathan, Javier E Villanueva-Meyer, Quynh T Tran, Sariah J Allen, Jairo Barreto, Rohit Gupta, Pamela Doo, Jessica Van Ziffle, Courtney Onodera, Patrick Devine, James P Grenert, David Samuel, Rong Li, Laura K Metrock, Lee-Way Jin, Reuben Antony, Mouied Alas