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

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面的信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Starosta, Rodrigo T; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine A; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer E; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik G; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Tzovenos, Rodrigo Starosta; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies

探索解决伊朗先天性异常患者基因诊断难题的途径

Parisa Vaseghi ,Laleh Habibi # ,Julie A Neidich # ,Yang Cao # ,Neda Fattahi ,Ramin Rashidi-Nezhad ,Tayebeh Salehnezhad ,Hossein Dalili ,Fatemeh Rahimi Sharbaf ,Mohammad Reza Zarkesh ,Mahtash Malekian ,Mahdieh Mokhberdezfuli ,Amirhosein Mehrtash ,Amin Ardeshirdavani ,Roxana Kariminejad ,Vafa Ghorbansabagh ,Parvane Sadeghimoghadam ,Amir Naddaf ,Tahereh Esmaeilnia Shirvany ,Ziba Mosayebi ,Behrokh Sahebdel ,Fatemeh Golshahi ,Mahboobeh Shirazi ,Shirin Shamel ,Roksana Moeini ,Abolfazl Heidari ,Mohammad Ali Daneshmand ,Reza Ghasemi ,Seyed Mohammad Akrami ,Ali Rashidi-Nezhad

Comparing Gene Panels for Non-Retinal Indications: A Systematic Review

比较用于非视网膜疾病的基因检测组合:系统评价

Procopio, Rebecca; Pulido, Jose S; Gunton, Kammi B; Syed, Zeba A; Lee, Daniel; Moster, Mark L; Sergott, Robert; Neidich, Julie A; Reynolds, Margaret M

Profiling PIK3CA variants in disorders of somatic mosaicism

PIK3CA变异在体细胞嵌合疾病中的分析

Mojarad, Bahareh A; Hernandez, Patricia V; Evenson, Michael J; Corliss, Meagan M; Stein, Sarah L; Theos, Amy; Coughlin, Carrie C; Sisk, Bryan; Menezes, Maithilee; Schroeder, Molly C; Heusel, Jonathan W; Neidich, Julie A; Cao, Yang

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism

两种具有临床意义的变异同时存在,导致体细胞嵌合性疾病

Cao, Yang; Evenson, Michael J; Corliss, Meagan M; Schroeder, Molly C; Heusel, Jonathan W; Neidich, Julie A

Acceptance of Saliva-Based Specimen Collection for SARS-CoV-2 Testing Among K-12 Students, Teachers, and Staff

K-12学生、教师和工作人员对采用唾液样本进行SARS-CoV-2检测的接受度

McLaughlin, Heather P; Worrell, Mary Claire; Malone, Sara; Dawson, Patrick; Maricque, Brett; Halpin, Jessica L; Lee, Sooji; Fritz, Stephanie A; Tinker, Sarah C; Neidich, Julie A; Towns, Katie; Lee, Justin S; Barrios, Lisa C; Neatherlin, John C; Newland, Jason G; Salzer, Johanna S

SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities

在学校对智力和发育障碍儿童进行SARS-CoV-2筛查检测

Sherby, Michael R; Walsh, Tyler J; Lai, Albert M; Neidich, Julie A; Balls-Berry, Joyce E; Morris, Stephanie M; Head, Richard; Prener, Christopher G; Newland, Jason G; Gurnett, Christina A

From karyotypes to precision genomics in 9p deletion and duplication syndromes

从核型到 9p 缺失和重复综合征的精准基因组学

Eleanor I Sams, Jeffrey K Ng, Victoria Tate, Ying-Chen Claire Hou, Yang Cao, Lucinda Antonacci-Fulton, Khadija Belhassan, Julie Neidich, Robi D Mitra, F Sessions Cole, Patricia Dickson, Jeffrey Milbrandt, Tychele N Turner

Tissue factor deficiency increases alveolar hemorrhage and death in influenza A virus-infected mice

组织因子缺乏会增加感染甲型流感病毒小鼠的肺泡出血和死亡率

Antoniak, S; Tatsumi, K; Hisada, Y; Milner, J J; Neidich, S D; Shaver, C M; Pawlinski, R; Beck, M A; Bastarache, J A; Mackman, N