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

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

评估RNA测序在产前诊断中的应用:培养绒毛膜绒毛和羊水样本的表达谱

Vladoiu, Maria C; Zhao, Sen; Zemet, Roni; Parobek, Christian M; Sinson, Jefferson Cruz; Tankersley, Stacy; Van den Veyver, Ignatia B; Liu, Pengfei

Loss of the maternal effect gene NLRP2 impairs embryonic and extra-embryonic development, revealing a novel genetic cause of congenital anomalies†

母体效应基因NLRP2的缺失会损害胚胎和胚外发育,揭示了一种新的先天性异常遗传原因†

Sharif, Momal; Anvar, Zahra; Chakchouk, Imen; El-Dessouky, Sara H; Zemet, Roni; Kao, Eric C; Sharaf-Eldin, Wessam E; Wan, Ying-Wooi; Liu, Zhandong; Liu, Pengfei; Jochum, Michael; Van den Veyver, Ignatia B

Amniocentesis in pregnancies at or beyond 24 weeks: an international multicenter study

妊娠24周及以上羊膜穿刺术:一项国际多中心研究

Zemet, Roni; Maktabi, Mohamad Ali; Tinfow, Alexandra; Giordano, Jessica L; Heisler, Thomas M; Yan, Qi; Plaschkes, Roni; Stokes, Jenny; Walsh, Jennifer M; Corcoran, Siobhán; Schindewolf, Erica; Miller, Kendra; Talati, Asha N; Miller, Kristen A; Blakemore, Karin; Swanson, Kate; Ramm, Jana; Bedei, Ivonne; Sparks, Teresa N; Jelin, Angie C; Vora, Neeta L; Gebb, Juliana S; Crosby, David A; Berkenstadt, Michal; Weisz, Boaz; Wapner, Ronald J; Van Den Veyver, Ignatia B

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation

心肌病,一种罕见的先天性糖基化障碍表型:基线筛查和随访评估建议

Zemet, Roni; Hope, Kyle D; Edmondson, Andrew C; Shah, Rameen; Patino, Maria; Yesso, Abigail M; Berger, Justin H; Sarafoglou, Kyriakie; Larson, Austin; Lam, Christina; Morava, Eva; Scaglia, Fernando

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

先天性糖基化障碍前沿联盟,一项针对自然史队列中 280 名个体进行的第 5 年横断面研究报告

Lam, Christina; Scaglia, Fernando; Berry, Gerard T; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C; Sklirou, Evgenia; Tan, Queenie K G; Starosta, Rodrigo T; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J; Coles, Kiaira; Cook, Edward; Eklund, Erik A; Engelhardt, Nicole M; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y T; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L; Mercimek-Andrews, Saadet; Miller, Bradley S; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C; Pogorelc, Natalie; Powers, Lex N; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Thies, Jenny; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C; Morava, Eva

Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis

临床外显子组测序揭示疑似缺氧缺血性脑病新生儿的遗传疾病:一项回顾性分析

Parobek, Christian M; Zemet, Roni; Shanahan, Matthew A; Burnett, Brian A; Mizerik, Elizabeth; Rosenfeld, Jill A; Vossaert, Liesbeth; Clark, Steven L; Hunter, Jill V; Lalani, Seema R

Implication of chromosomal microarray analysis prior to in-utero repair of fetal open neural tube defect

染色体微阵列分析在胎儿开放性神经管缺陷宫内修复术中的意义

Zemet, R; Krispin, E; Johnson, R M; Kumar, N R; Westerfield, L E; Stover, S; Mann, D G; Castillo, J; Castillo, H A; Nassr, A A; Sanz Cortes, M; Donepudi, R; Espinoza, J; Whitehead, W E; Belfort, M A; Shamshirsaz, A A; Van den Veyver, I B

SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

双等位基因 RAD51C 变异体中的 SNV/indel 高突变表型:范可尼贫血

Zemet, Roni; Du, Haowei; Gambin, Tomasz; Lupski, James R; Liu, Pengfei; Stankiewicz, Paweł

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia

双等位基因 RAD51C 变异体中的 SNV/indel 高突变表型 - 范可尼贫血

Zemet, Roni; Du, Haowei; Gambin, Tomasz; Lupski, James R; Liu, Pengfei; Stankiewicz, Paweł

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

产前表型分析:一项旨在增强人类表型本体论的社区努力

Dhombres, Ferdinand; Morgan, Patricia; Chaudhari, Bimal P; Filges, Isabel; Sparks, Teresa N; Lapunzina, Pablo; Roscioli, Tony; Agarwal, Umber; Aggarwal, Shagun; Beneteau, Claire; Cacheiro, Pilar; Carmody, Leigh C; Collardeau-Frachon, Sophie; Dempsey, Esther A; Dufke, Andreas; Duyzend, Michael Henri; El Ghosh, Mirna; Giordano, Jessica L; Glad, Ragnhild; Grinfelde, Ieva; Iliescu, Dominic G; Ladewig, Markus S; Munoz-Torres, Monica C; Pollazzon, Marzia; Radio, Francesca Clementina; Rodo, Carlota; Silva, Raquel Gouveia; Smedley, Damian; Sundaramurthi, Jagadish Chandrabose; Toro, Sabrina; Valenzuela, Irene; Vasilevsky, Nicole A; Wapner, Ronald J; Zemet, Roni; Haendel, Melissa A; Robinson, Peter N