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

Developmental organization of sensory and sympathetic ganglia

感觉神经节和交感神经节的发育组织

Vong, Keng Ioi; Alvarez, Yanina D; Zhang, Qingquan; Weng, Jiaming; Noel, Geoffroy; Barton, Scott T; Chung, Changuk; Howarth, Robyn; Meave, Naomi; Jiwani, Fiza; Patarlapalli, Sai B; Yao, Fenyong; Zhu, Fugui; Barrows, Chelsea; Patel, Arzoo; Wang, Jian Xiong; Chi, Neil C; Kingsmore, Stephen F; White, Melanie D; Yang, Xiaoxu; Gleeson, Joseph G

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.

神经发育障碍的表型脑类器官图谱和生物样本库。

Wang Lu, Nakamura Yuji, Li Junhao, Sievert David, Liu Yang, Nguyen Toan, Jetti Prudhvi Sai, Thai Ethan, Zhou Rachel Yibei, Weng Jiaming, Meave Naomi, Yadavilli Manya, Howarth Robyn, Camey Kevin, Banka Niyati, Owusu-Hammond Charlotte, Barrows Chelsea, Kingsmore Stephen F, Zaki Maha S, Mukamel Eran, Gleeson Joseph G

Systematic review and meta-analysis of humoral immunity proteins and mortality in sepsis

体液免疫蛋白与脓毒症死亡率的系统评价和荟萃分析

Villa, Antoine; Dewar, Fiona; Pisciotta, Walter; Rai, Ankit; Kerneis, Sven; Batum, Gül; McDonnell, Tom; Scully, Marie; McHugh, Timothy D; Hilpert, Kai; Gilroy, Derek; de Nooijer, Aline; Netea, Mihai G; Hedetoft, Morten; Bermejo-Martin, Jesús F; Akatsuka, Masayuki; Heinz, Corina C; Venet, Fabienne; Monneret, Guillaume; Meessen, Jennifer; Cheng, Tzu Hsuan; Zhang, Ming; Caironi, Pietro; Giamarellos-Bourboulis, Evangelos J; de la Torre Terrón, Mari C; Ebelt, Henning; Rademaker, Emma; Bodelsson, Mikael; Tverring, Jonas; Mi, Yuxin; Knight, Julian C; Lindsey, Merry L; Langley, Raymond J; Kingsmore, Stephen F; Brealey, Dave; Singer, Mervyn; Arulkumaran, Nishkantha

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

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial

BeginNGS新生儿基因组测序筛查与标准新生儿筛查在严重儿童遗传疾病筛查中的临床实用性和成本效益:一项适应性、国际性和比较性临床试验

Reimers, Rebecca; Bailey, Miranda; Brown, Chester; Chan, Kee; Defay, Tom; Finkel, Terri; Kahn, Scott; Protopsaltis, Liana; Stoddard, Lauren; Talati, Ajay J; Wigby, Kristen; Akil, Ammira Sarah Al-Shabeeb; Wright, Meredith; Kingsmore, Stephen F

Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation

快速基因组测序与基因检测在疑似遗传疾病危重婴儿中的应用:一项经济评估

Lavelle, Tara A; Maron, Jill L; Kingsmore, Stephen F; Lin, Ching-Hsuan; Zhu, Yingying; Sweigart, Benjamin; Reed, Dallas; Gelb, Bruce D; Vockley, Jerry; Davis, Jonathan M

Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks

对婴儿猝死综合征进行基因组与环境交叉分析,揭示了病因的异质性以及大麻和遗传疾病的显著风险。

Kingsmore, Stephen F; Bandoli, Gretchen; Helbling, Daniel C; Baer, Rebecca; Blincow, Eric; Cao, Bryant; Frise, Erwin; Heinen, Alaina; Jelliffe-Pawlowski, Laura; Kobayashi, Erica Sanford; Kraan, Lucita Van Der; Kwon, Hugh; Lavy, Rishona; Moore, Barry; Oh, Danny; Oltman, Scott; Eric Ontiveros; Protopsaltis, Liana; Yandell, Mark; Chambers, Christina D