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

Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32

基因组平衡之道:解读涉及 5p15.2、2q31.1 和 18q21.32 的复杂染色体畸变中的 DNA 重排

Dardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid M; El-Rashidy, Omnia F; Grochowski, Christopher M; Carvalho, Claudia M B; Jhangiani, Shalini N; Bi, Weimin; Du, Haowei; Gibbs, Richard A; Posey, Jennifer E; Calame, Daniel G; Zaki, Maha S; Lupski, James R

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

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

NODAL基因变异与一系列侧位缺陷相关,从简单的D型大动脉转位到异位症。

Dardas, Zain; Fatih, Jawid M; Jolly, Angad; Dawood, Moez; Du, Haowei; Grochowski, Christopher M; Jones, Edward G; Jhangiani, Shalini N; Wehrens, Xander H T; Liu, Pengfei; Bi, Weimin; Boerwinkle, Eric; Posey, Jennifer E; Muzny, Donna M; Gibbs, Richard A; Lupski, James R; Coban-Akdemir, Zeynep; Morris, Shaine A

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

利用T2T组装解决参考基因组缺口中的罕见和致病性倒位

Bilgrav Saether, Kristine; Eisfeldt, Jesper; Bengtsson, Jesse D; Lun, Ming Yin; Grochowski, Christopher M; Mahmoud, Medhat; Chao, Hsiao-Tuan; Rosenfeld, Jill A; Liu, Pengfei; Ek, Marlene; Schuy, Jakob; Ameur, Adam; Dai, Hongzheng; Hwang, James Paul; Sedlazeck, Fritz J; Bi, Weimin; Marom, Ronit; Wincent, Josephine; Nordgren, Ann; Carvalho, Claudia M B; Lindstrand, Anna

Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32

基因组平衡之道:解读涉及 5p15.2、2q31.1 和 18q21.32 的复杂染色体畸变中的 DNA 重排

Lupski, James; Dardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid; El-Rashidy, Omnia; Grochowski, Christopher; Carvalho, Claudia; Jhangiani, Shalini; Bi, Weimin; Du, Haowei; Gibbs, Richard; Posey, Jennifer; Calame, Daniel; Zaki, Maha

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

注意差距:基因组参考序列在解决罕见和致病性倒位中的重要性

Bilgrav Saether, Kristine; Eisfeldt, Jesper; Bengtsson, Jesse; Lun, Ming Yin; Grochowski, Christopher M; Mahmoud, Medhat; Chao, Hsiao-Tuan; Rosenfeld, Jill A; Liu, Pengfei; Schuy, Jakob; Ameur, Adam; Hwang, James Paul; Sedlazeck, Fritz J; Bi, Weimin; Marom, Ronit; Nordgren, Ann; Carvalho, Claudia M B; Lindstrand, Anna

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation

RAB1A单倍体不足的表型与2p14-p15微缺失相似,并且与神经元分化受损有关。

Rios, Jonathan J; Li, Yang; Paria, Nandina; Bohlender, Ryan J; Huff, Chad; Rosenfeld, Jill A; Liu, Pengfei; Bi, Weimin; Haga, Kentaro; Fukuda, Mitsunori; Vashisth, Shayal; Kaur, Kiran; Chahrour, Maria H; Bober, Michael B; Duker, Angela L; Ladha, Farah A; Hanchard, Neil A; Atala, Kristhen; Khanshour, Anas M; Smith, Linsley; Wise, Carol A; Delgado, Mauricio R

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

染色体微阵列分析是对外显子组测序的补充,用于诊断疑似患有先天性免疫缺陷的儿童。

Beers, Breanna J; Similuk, Morgan N; Ghosh, Rajarshi; Seifert, Bryce A; Jamal, Leila; Kamen, Michael; Setzer, Michael R; Jodarski, Colleen; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Cao, Wenjia; Bi, Weimin; Veltri, Daniel; Karlins, Eric; Zhang, Lingwen; Li, Zhiwen; Oler, Andrew J; Jevtich, Kathleen; Yu, Yunting; Hullfish, Haley; Bielekova, Bibiana; Frischmeyer-Guerrerio, Pamela; Dang Do, An; Huryn, Laryssa A; Olivier, Kenneth N; Su, Helen C; Lyons, Jonathan J; Zerbe, Christa S; Rao, V Koneti; Keller, Michael D; Freeman, Alexandra F; Holland, Steven M; Franco, Luis M; Walkiewicz, Magdalena A; Yan, Jia

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios

胎儿PKHD1基因中存在新生亚显微缺失和遗传性移码致病变异的复合杂合性,表现为双侧肾脏增大且回声增强、腹部增大和羊水过少。

Sakyu, Takuya; Stover, Samantha R; Wang, Yue; Ward, Patricia; Gandhi, Manisha; Braun, Michael C; Van den Veyver, Ignatia B; Bi, Weimin