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

Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions

深入了解胎儿积液背后的先天性淋巴异常

Vargo, Sara G; Rogerson, Daniella; Devine, Patrick; Van Ziffle, Jessica; Sparks, Teresa N

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

PATH-39. Tail ligation recombinase polymerase amplification sequencing (TLDRseq) enables sensitive, same-day, multi-gene sequencing for plasma-based detection and timely monitoring of brain tumor ctDNA

PATH-39. 尾部连接重组酶聚合酶扩增测序 (TLDRseq) 可实现灵敏、当日完成的多基因测序,用于基于血浆的脑肿瘤循环肿瘤DNA (ctDNA) 检测和及时监测。

Antoniou, Anastasia; Georgiou, Leonidas; Chrysanthou, Antreas; Christofi, Antonis; Roussakis, Yiannis; Ioannides, Cleanthis; Spanoudes, Kyriakos; Zhao, Jufeng; Yu, Liyang; Damianou, Christakis; Liu‐Ambrose, Teresa; Innani, Shubham; Pitarch-Abaigar, Carla; Marwan, Majeed M; Harmsen, Hannah; Bell, W Robert; Makris, Dimitrios; Bakas, Spyridon; Jackson, Devon; Majeed, Marwan; Caldwell, Timothy; Shiue, Kevin; Almeida, Joao Paulo; Gatson, Na Tosha; Harmsen, Hannah; Bell, Robert; Eze, Ucheoma; Wang, Zihan; Ni, Bowen; Wu, Kezhi; Zhang, Qi; Guo, Jinglin; Yang, Runwei; Wang, Ziyu; Yi, Guozhong; Huang, Guanglong; He, Minyi; Xu, Yimin; Liu, Yawei; Brandenburg, Charlotte; Starzetz, Tatjana; Luger, Anna; Singh, Omkar; Aldape, Kenneth D; Schweizer, Leonille; Lachance, Daniel; Paul, Decker; Kollmeyer, Thomas; Drucker, Kristen; Praska, Corinne; Kosel, Matthew; Odukoya, AbdulLateef; Kizilbash, Sani; Maqbool, Asad; Shafqat, Shameel; Tobin, Oliver; Burns, Terry; Parney, Ian; Galanis, Evanthia; Giannini, Caterina; Vaubel, Rachael; Ida, Cris; Jenkins, Robert; Passow, Jeanette Eckel; Shukla, Poojan; Peeran, Zain; Chen, Jia-Shu; Al-Adli, Nadeem; Koshkin, Vadim; Vasudevan, Harish; Morshed, Ramin; Nguyen, Minh; Mirchia, Kanish; Morshed, Ramin; Bush, Nancy Ann Oberheim; Villanueva-Meyer, Javier; Braman, Brooke; Chen, William; Devine, Patrick; Perry, Arie; Raleigh, David; Innani, Shubham; Bell, W Robert; Nasrallah, MacLean P; Baheti, Bhakti; Bakas, Spyridon; Chen, Chao-Hsien; von Bubnoff, Fabian; Leung, Cheuk Hong; Campbell, Erick; Wathoo, Chetna; Lin, Heather; Puduvalli, Vinay K; Majd, Nazanin K; Wadden, Jack; Aittaleb, Rayan; Adam, Tiffany; Jackson, Conner; John, Vishal; Lau, Benison; Calvert, Rebecca; Franson, Andrea; Mody, Rajen; Prensner, John; Upadhyaya, Santhosh; Koschmann, Carl

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

Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas

p16表达缺失是恶性脑膜瘤中CDKN2A纯合缺失的敏感标志物

Tang, Vivian; Lu, Rufei; Mirchia, Kanish; Van Ziffle, Jessica; Devine, Patrick; Lee, Julieann; Phillips, Joanna J; Perry, Arie; Raleigh, David R; Lucas, Calixto-Hope G; Solomon, David A

TFG::ALK fusion in ALK positive large B-cell lymphoma: a case report and review of literature

ALK阳性大B细胞淋巴瘤中TFG::ALK融合:病例报告及文献复习

Xiao, Andrew; Shahmarvand, Nahid; Nagy, Alexandra; Kumar, Jyoti; Van Ziffle, Jessica; Devine, Patrick; Huang, Franklin; Lezama, Lhara; Li, Peng; Ohgami, Robert S

Activating NTRK2 and ALK receptor tyrosine kinase fusions extend the molecular spectrum of pleomorphic xanthoastrocytomas of early childhood: a diagnostic overlap with infant-type hemispheric glioma

激活的 NTRK2 和 ALK 受体酪氨酸激酶融合基因扩展了幼儿期多形性黄色星形细胞瘤的分子谱:与婴儿型半球胶质瘤存在诊断重叠

Lucas, Calixto-Hope G; Abdullaev, Zied; Bruggers, Carol S; Mirchia, Kanish; Whipple, Nicholas S; Alashari, Mouied M; Lowichik, Amy; Cheshier, Samuel; Phillips, Joanna J; Devine, Patrick; Solomon, David A; Quezado, Martha; Aldape, Kenneth D; Perry, Arie

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

多个组蛋白H4基因中反复出现的新生错义突变是神经发育综合征的根本原因。

Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Beleza Meireles, Ana; Elting, Mariet W; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A L; Koene, Saskia; Robertson, Stephen P; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M; Weiss, Janneke M M; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O M; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D; Bicknell, Louise S; van Haaften, Gijs

Targeted Next-Generation Sequencing Reveals Divergent Clonal Evolution in Components of Composite Pleomorphic Xanthoastrocytoma-Ganglioglioma

靶向二代测序揭示复合型多形性黄色星形细胞瘤-神经节胶质瘤各组分的克隆演化差异

Lucas, Calixto-Hope G; Davidson, Christian J; Alashari, Mouied; Putnam, Angelica R; Whipple, Nicholas S; Bruggers, Carol S; Mendez, Joe S; Cheshier, Samuel H; Walker, Jeffrey B; Ramani, Biswarathan; Cadwell, Cathryn R; Sullivan, Daniel V; Lu, Rufei; Mirchia, Kanish; Van Ziffle, Jessica; Devine, Patrick; Goldschmidt, Ezequiel; Hervey-Jumper, Shawn L; Gupta, Nalin; Oberheim Bush, Nancy Ann; Raleigh, David R; Bollen, Andrew; Tihan, Tarik; Pekmezci, Melike; Solomon, David A; Phillips, Joanna J; Perry, Arie

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