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

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons

新发的MAP2K4变异会导致一种新的神经发育综合征,其特征是iPSC衍生神经元中的JNK信号传导受损。

Nomakuchi, Tomoki T; Rippert, Alyssa L; De León, Sabrina A Santos; Gonzalez, Elizabeth M; Li, Dong; Angireddy, Rajesh; Finoti, Livia Sertori; Faletra, Flavio; Musante, Luciana; Tuula, Rinne; Amor, David J; von Wintzingerode, Lydia; Jamra, Rami Abou; Stover, Samantha R; Buchan, Jillian G; Hayek, Jennifer; Leon, Eyby; Attie-Bitach, Tania; Rio, Marlene; Baujat, Genevieve; Wallach, Elisabeth; Smail, Amandine; Dias, Kerith-Rae; Pfeifer, Ulrich; Peterson, Amanda; Ahrens-Nicklas, Rebecca C; Bhoj, Elizabeth J K

Effect of Uterine Leiomyomas on Noninvasive Prenatal Testing Parameters in the First Trimester

子宫肌瘤对妊娠早期无创产前检测参数的影响

Kolarova, Teodora R; Alderson, Ali; MacKinnon, Hayley; Chen, Leah; Buchan, Jillian G; Lockwood, Christina; Shree, Raj

Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing

展望儿童脑肿瘤诊断分子时代第一年之后:对肿瘤测序中发现的种系变异进行确认性检测

Greene, Brittany L; Stasi, Shannon M; Ting, Michelle A; Waligorski, Natalie; Cole, Bonnie L; Lockwood, Christina M; Paulson, Vera A; Buchan, Jillian G; Lee, Amy; Ojemann, Jeffrey G; Ellenbogen, Richard G; Stevens, Jeffrey; Leary, Sarah E S

Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant

一名印度患者患有伍德豪斯-萨卡蒂综合征,其携带一种新的致病变异

Amalnath, S Deepak; Jothivanan; Oshima, Junko; Buchan, Jillian G; Paolucci, Sarah

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions

单等位基因POU3F2基因内变异会导致神经发育迟缓和过度摄食性肥胖,证实了该基因在6q16.1缺失中的作用。

Schönauer, Ria; Jin, Wenjun; Findeisen, Christin; Valenzuela, Irene; Devlin, Laura Alice; Murrell, Jill; Bedoukian, Emma C; Pöschla, Linda; Hantmann, Elena; Riedhammer, Korbinian M; Hoefele, Julia; Platzer, Konrad; Biemann, Ronald; Campeau, Philipp M; Münch, Johannes; Heyne, Henrike; Hoffmann, Anne; Ghosh, Adhideb; Sun, Wenfei; Dong, Hua; Noé, Falko; Wolfrum, Christian; Woods, Emily; Parker, Michael J; Neatu, Ruxandra; Le Guyader, Gwenael; Bruel, Ange-Line; Perrin, Laurence; Spiewak, Helena; Missotte, Isabelle; Fourgeaud, Melanie; Michaud, Vincent; Lacombe, Didier; Paolucci, Sarah A; Buchan, Jillian G; Glissmeyer, Margaret; Popp, Bernt; Blüher, Matthias; Sayer, John A; Halbritter, Jan

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

多基因检测和基因组检测中报告的意义未明变异(VUS)现状:是时候改变了

Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle; Saunders, Carol J; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J; Thiffault, Isabelle; Thomas, Brittany C; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J; Towne, Meghan C; Zouk, Hana

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

针对生殖系疾病诊断的临床全基因组测序分析验证的最佳实践

Marshall, Christian R; Chowdhury, Shimul; Taft, Ryan J; Lebo, Mathew S; Buchan, Jillian G; Harrison, Steven M; Rowsey, Ross; Klee, Eric W; Liu, Pengfei; Worthey, Elizabeth A; Jobanputra, Vaidehi; Dimmock, David; Kearney, Hutton M; Bick, David; Kulkarni, Shashikant; Taylor, Stacie L; Belmont, John W; Stavropoulos, Dimitri J; Lennon, Niall J

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

长读长基因组测序揭示孟德尔疾病的致病结构变异

Merker, Jason D; Wenger, Aaron M; Sneddon, Tam; Grove, Megan; Zappala, Zachary; Fresard, Laure; Waggott, Daryl; Utiramerur, Sowmi; Hou, Yanli; Smith, Kevin S; Montgomery, Stephen B; Wheeler, Matthew; Buchan, Jillian G; Lambert, Christine C; Eng, Kevin S; Hickey, Luke; Korlach, Jonas; Ford, James; Ashley, Euan A

Kinesin family member 6 (kif6) is necessary for spine development in zebrafish

驱动蛋白家族成员6 (kif6) 是斑马鱼脊柱发育所必需的

Buchan, Jillian G; Gray, Ryan S; Gansner, John M; Alvarado, David M; Burgert, Lydia; Gitlin, Jonathan D; Gurnett, Christina A; Goldsmith, Matthew I

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development

对 413 例孤立性马蹄内翻足患者的拷贝数分析表明,转录调控因子在早期肢体发育中发挥作用

Alvarado, David M; Buchan, Jillian G; Frick, Steven L; Herzenberg, John E; Dobbs, Matthew B; Gurnett, Christina A