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

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

将威尔逊-荣格纳原则应用于基因组学时代:国际新生儿测序联盟的共识建议

Downie, Lilian; Yeo, Julie; Minten, Thomas; Heald, Rose; Ansel, Derek; Baker, Mei; Balciuniene, Jorune; Berg, Jonathan S; Boemer, François; Chung, Wendy K; Cope, Heidi L; Eckstein, David J; Encina, Nicolas; Faivre, Laurence; Ferlini, Alessandra; García-Villoria, Judit; Gelb, Michael H; González De Aledo-Castillo, José Manuel; Golden-Grant, Katie; Parad, Richard B; Shah, Nidhi; Stark, Zornitza; Sund, Kristen L; Tsipouras, Petros; To, Meekai; Bick, David; Green, Robert C; Gold, Nina B

Real-world insights from a cohort of approximately 2000 individuals who were analysed using a freely available next-generation sequencing anaemia screening programme

通过对约 2000 名个体进行分析,利用免费提供的下一代测序贫血筛查程序,获得了来自真实世界的见解。

Balciuniene, Jorune; Yilmaz, Saliha; Chonat, Satheesh; Grace, Rachael F; Soff, Gerald A; Ravindranath, Yaddanapudi; Glader, Bertil; Bianchi, Paola; McGee, Bryan; Agarwal, Archana M; Puthenveetil, Geetha

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome

16q24.3微缺失破坏ANKRD11上游非编码区导致KBG综合征

Iwata-Otsubo, Aiko; Rippert, Alyssa L; Balciuniene, Jorune; Fiordaliso, Sarah K; Chen, Robert; Markose, Preetha; Skraban, Cara M; Gray, Christopher; Zackai, Elaine H; Dubbs, Holly A; Deardorff, Matthew A; Conlin, Laura K; Izumi, Kosuke

Molecular exploration of fossil eggshell uncovers hidden lineage of giant extinct bird

对化石蛋壳的分子研究揭示了已灭绝巨型鸟类的隐秘谱系

Grealy, Alicia; Miller, Gifford H; Phillips, Matthew J; Clarke, Simon J; Fogel, Marilyn; Patalwala, Diana; Rigby, Paul; Hubbard, Alysia; Demarchi, Beatrice; Collins, Matthew; Mackie, Meaghan; Sakalauskaite, Jorune; Stiller, Josefin; Clarke, Julia A; Legendre, Lucas J; Douglass, Kristina; Hansford, James; Haile, James; Bunce, Michael

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

新生儿和儿童主动筛查中,基因组测序与医学可操作基因检测在儿童期发病疾病高危基因组学发现方面的比较

Balciuniene, Jorune; Liu, Ruby; Bean, Lora; Guo, Fen; Nallamilli, Babi Ramesh Reddy; Guruju, Naga; Chen-Deutsch, Xiangwen; Yousaf, Rizwan; Fura, Kristina; Chin, Ephrem; Mathur, Abhinav; Ma, Zeqiang; Carmichael, Jonathan; da Silva, Cristina; Collins, Christin; Hegde, Madhuri

Threads of memory: Reviving the ornament of a dead child at the Neolithic village of Ba`ja (Jordan)

记忆的线索:在约旦巴贾新石器时代村落中,重现一位逝去孩童的饰品

Alarashi, Hala; Benz, Marion; Gresky, Julia; Burkhardt, Alice; Fischer, Andrea; Gourichon, Lionel; Gerlitzki, Melissa; Manfred, Martin; Sakalauskaite, Jorune; Demarchi, Beatrice; Mackie, Meaghan; Collins, Matthew; Odriozola, Carlos P; Garrido Cordero, José Ángel; Avilés, Miguel Ángel; Vigorelli, Luisa; Re, Alessandro; Gebel, Hans Georg K

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

线粒体疾病中全面的mtDNA基因组检测的先进方法

Wang, Jing; Balciuniene, Jorune; Diaz-Miranda, Maria Alejandra; McCormick, Elizabeth M; Aref-Eshghi, Erfan; Muir, Alison M; Cao, Kajia; Troiani, Juliana; Moseley, Alicia; Fan, Zhiqian; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy; Ganetzky, Rebecca D; Muraresku, Colleen C; Peterson, James T; Spinner, Nancy B; Wallace, Douglas C; Dulik, Matthew C; Falk, Marni J

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

700 例临床外显子组测序的分子诊断结果:我们能从回顾性分析中学到什么?

Murrell, Jill R; Nesbitt, Addie May I; Baker, Samuel W; Pechter, Kieran B; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H; DeChene, Elizabeth T; Wu, Chao; Jayaraman, Pushkala; Cao, Kajia; Gonzalez, Michael; Devoto, Marcella; Testori, Alessandro; Monos, John D; Dulik, Matthew C; Conlin, Laura K; Luo, Minjie; McDonald Gibson, Kristin; Guan, Qiaoning; Sarmady, Mahdi; Bhoj, Elizabeth; Helbig, Ingo; Zackai, Elaine H; Bedoukian, Emma C; Wilkens, Alisha; Tarpinian, Jennifer; Izumi, Kosuke; Skraban, Cara M; Deardorff, Matthew A; Medne, Livija; Krantz, Ian D; Krock, Bryan L; Santani, Avni B

3323 Juvenile Polyposis Syndrome Patients Without a Mutation in SMAD4 or BMPR1A: Clinical Presentation and Novel Drivers of Disease

3323 例 SMAD4 或 BMPR1A 基因无突变的幼年性息肉综合征患者:临床表现和新的致病因素

Balciuniene, Jorune; DeChene, Elizabeth T; Akgumus, Gozde; Romasko, Edward J; Cao, Kajia; Dubbs, Holly A; Mulchandani, Surabhi; Spinner, Nancy B; Conlin, Laura K; Marsh, Eric D; Goldberg, Ethan; Helbig, Ingo; Sarmady, Mahdi; Abou Tayoun, Ahmad; MacFarland, Suzanne; Ebrahimzadeh, Jessica; Zelley, Kristin; Mamula, Petar; Brodeur, Garrett; Katona, Bryson

'Palaeoshellomics' reveals the use of freshwater mother-of-pearl in prehistory

“古海洋组学”揭示史前时期淡水珍珠母的使用

Jorune Sakalauskaite, Søren H Andersen, Paolo Biagi, Maria A Borrello, Théophile Cocquerez, André Carlo Colonese, Federica Dal Bello, Alberto Girod, Marion Heumüller, Hannah Koon, Giorgia Mandili, Claudio Medana, Kirsty Eh Penkman, Laurent Plasseraud, Helmut Schlichtherle, Sheila Taylor, Caroline To