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

Aberrant cytoplasmic localization of MLH1 characterizes a cell population that seeds breast cancer recurrence.

MLH1 的异常细胞质定位是导致乳腺癌复发的细胞群的特征。

Mazumder Aloran, Dewitt Jerry, Oropeza Elena, Punturi Nindo, Lozano Daniel, Raghunathan Megha, Piscitelli Jonathan, Sajjadi Elham, GueriniRocco Elena, Venetis Konstantinos, Ivanova Mariia, Mane Eltjona, Dercole Marianna, Concardi Alberto, Fusco Nicola, Manhart Carol, Bainbridge Matthew, Haricharan Svasti

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

Long-term follow-up of children who received rapid genomic sequencing

对接受快速基因组测序的儿童进行长期随访

Sanford Kobayashi, Erica; Tobin, Laura E; Arenchild, Madison; Benson, Wendy; Coufal, Nicole G; Juarez, Edwin F; Kingsmore, Stephen F; Knight, Jason; Lenberg, Jerica; Schwarz, Adam; Vargas-Shiraishi, Ofelia; Wigby, Kristen; Bainbridge, Matthew

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

Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism

长读长基因组测序阐明自闭症中结构和重复序列变异的多种功能后果

Mortazavi, Milad; Guevara, James; Diaz, Joshua; Tran, Stephen; Ziaei Jam, Helyaneh; Batalov, Sergey; Bainbridge, Matthew; Besterman, Aaron D; Gymrek, Melissa; Palmer, Abraham A; Sebat, Jonathan

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.

通过基于纯化超选择的联邦训练,对基于基因组的新生儿筛查进行严重儿童遗传疾病的预认证

Kingsmore Stephen F, Wright Meredith, Smith Laurie D, Liang Yupu, Mowrey William R, Protopsaltis Liana, Bainbridge Matthew, Baker Mei, Batalov Sergey, Blincow Eric, Cao Bryant, Caylor Sara, Chambers Christina, Ellsworth Katarzyna, Feigenbaum Annette, Frise Erwin, Guidugli Lucia, Hall Kevin P, Hansen Christian, Kiel Mark, Van Der Kraan Lucita, Krilow Chad, Kwon Hugh, Madhavrao Lakshminarasimha, Lefebvre Sebastien, Leipzig Jeremy, Mardach Rebecca, Moore Barry, Oh Danny, Olsen Lauren, Ontiveros Eric, Owen Mallory J, Reimers Rebecca, Scharer Gunter, Schleit Jennifer, Shelnutt Seth, Mehtalia Shyamal S, Oriol Albert, Sanford Erica, Schwartz Steve, Wigby Kristen, Willis Mary J, Yandell Mark, Kunard Chris M, Defay Thomas

Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes

SENP7基因双等位基因功能缺失变异导致免疫缺陷,并伴有神经系统和肌肉表型。

Kobayashi, Erica Sanford; Lotan, Nava Shaul; Schejter, Yael Dinur; Makowski, Christine; Kraus, Verena; Ramchandar, Nanda; Meiner, Vardiella; Thiffault, Isabelle; Farrow, Emily; Cakici, Julie; Kingsmore, Stephen; Wagner, Matias; Rieber, Nikolaus; Bainbridge, Matthew

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