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

A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit

机器学习决策支持工具优化新生儿重症监护病房中全基因组测序(WGS)的使用

Juarez, Edwin F; Peterson, Bennet; Sanford Kobayashi, Erica; Gilmer, Sheldon; Tobin, Laura E; Schultz, Brandan; Lenberg, Jerica; Carroll, Jeanne; Bai-Tong, Shiyu; Sweeney, Nathaly M; Beebe, Curtis; Stewart, Lawrence; Olsen, Lauren; Reinke, Julie; Kiernan, Elizabeth A; Reimers, Rebecca; Wigby, Kristen; Tackaberry, Chris; Yandell, Mark; Hobbs, Charlotte; Bainbridge, Matthew N

MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission

MPSE可在新生儿重症监护室入院48小时内识别需要进行全基因组测序的新生儿。

Peterson, Bennet; Juarez, Edwin F; Moore, Barry; Hernandez, Edgar Javier; Frise, Erwin; Li, Jianrong; Lussier, Yves; Tristani-Firouzi, Martin; Reese, Martin G; Malone Jenkins, Sabrina; Kingsmore, Stephen F; Bainbridge, Matthew N; Yandell, Mark

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization

SLC13A5柠檬酸转运蛋白疾病的研究工具日益丰富:这种罕见疾病拥有动物模型、细胞系、正在进行的自然史研究以及积极参与的患者权益倡导组织。

Brown, Tanya L; Bainbridge, Matthew N; Zahn, Grit; Nye, Kim L; Porter, Brenda E

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

利用临床自然语言处理和机器学习技术,自动确定患病新生儿全基因组测序的优先顺序

Peterson, Bennet; Hernandez, Edgar Javier; Hobbs, Charlotte; Malone Jenkins, Sabrina; Moore, Barry; Rosales, Edwin; Zoucha, Samuel; Sanford, Erica; Bainbridge, Matthew N; Frise, Erwin; Oriol, Albert; Brunelli, Luca; Kingsmore, Stephen F; Yandell, Mark

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

神经系统疾病中的内源性大麻素功能障碍:神经眼DAGLA相关综合征

Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Abou Jamra, Rami; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna C E; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; Shashi, Vandana; Srivastava, Siddharth; Thiffault, Isabella; Topol, Sarah; Qebibo, Leila; Wieczorek, Dagmar; Cravatt, Benjamin; Haricharan, Svasti; Torkamani, Ali; Friedman, Jennifer

The DNA damage repair landscape in Black women with breast cancer

黑人乳腺癌患者的DNA损伤修复情况

Mazumder, Aloran; Jimenez, Athena; Ellsworth, Rachel E; Freedland, Stephen J; George, Sophia; Bainbridge, Matthew N; Haricharan, Svasti

Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

在临床环境中应用长读长测序来提高诊断率

Sanford Kobayashi, Erica; Batalov, Serge; Wenger, Aaron M; Lambert, Christine; Dhillon, Harsharan; Hall, Richard J; Baybayan, Primo; Ding, Yan; Rego, Seema; Wigby, Kristen; Friedman, Jennifer; Hobbs, Charlotte; Bainbridge, Matthew N

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

NGLY1 缺乏症:NGLY1 注册中心提供的估计发病率、临床特征和基因型谱

Stanclift, Caroline R; Dwight, Selina S; Lee, Kevin; Eijkenboom, Quirine L; Wilsey, Matt; Wilsey, Kristen; Kobayashi, Erica Sanford; Tong, Sandra; Bainbridge, Matthew N

POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families

POT1相关遗传性癌症综合征家族中常见肿瘤类型中的POT1突变谱

Shen, Erica; Xiu, Joanne; Lopez, Giselle Y; Bentley, Rex; Jalali, Ali; Heimberger, Amy B; Bainbridge, Matthew N; Bondy, Melissa L; Walsh, Kyle M