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

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

对使用一线基因组测序诊断罕见遗传疾病的证据审查和注意事项

Wigby, Kristen M; Brockman, Deanna; Costain, Gregory; Hale, Caitlin; Taylor, Stacie L; Belmont, John; Bick, David; Dimmock, David; Fernbach, Susan; Greally, John; Jobanputra, Vaidehi; Kulkarni, Shashikant; Spiteri, Elizabeth; Taft, Ryan J

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

推进罕见遗传疾病基因组测序的普及:最新进展与行动呼吁

Jobanputra, Vaidehi; Schroeder, Brock; Rehm, Heidi L; Shen, Wei; Spiteri, Elizabeth; Nakouzi, Ghunwa; Taylor, Stacie; Marshall, Christian R; Meng, Linyan; Kingsmore, Stephen F; Ellsworth, Katarzyna; Ashley, Euan; Taft, Ryan J

Performance of MYC, BCL2, and BCL6 break-apart FISH in small biopsies with large B-cell lymphoma: a retrospective Cytopathology Hematopathology Interinstitutional Consortium study

MYC、BCL2 和 BCL6 断裂 FISH 在大 B 细胞淋巴瘤小活检标本中的表现:一项回顾性细胞病理学和血液病理学机构间联盟研究

Menke, Joshua R; Aypar, Umut; Bangs, Charles D; Cook, Stephen L; Gupta, Srishti; Hasserjian, Robert P; Kong, Christina S; Lin, Oscar; Long, Steven R; Ly, Amy; Menke, Jacob A S; Natkunam, Yasodha; Ruiz-Cordero, Roberto; Spiteri, Elizabeth; Ye, Julia; Zadeh, Sara L; Gratzinger, Dita A

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

临床分子遗传学和临床细胞遗传学培训的提供和整合所面临的挑战和机遇:LGG专科医师培训项目主任调查

Deignan, Joshua L; Aggarwal, Vimla; Bale, Allen E; Bellissimo, Daniel B; Booker, Jessica K; Cao, Yang; Crooks, Kristy R; Deak, Kristen L; Del Gaudio, Daniela; Funke, Birgit; Hoppman, Nicole L; Horner, Vanessa; Hufnagel, Robert B; Jackson-Cook, Colleen; Koduru, Prasad; Leung, Marco L; Li, Shibo; Liu, Pengfei; Luo, Minjie; Mao, Rong; Mason-Suares, Heather; Mikhail, Fady M; Moore, Stephen R; Naeem, Rizwan C; Pollard, Laura M; Repnikova, Elena A; Shao, Lina; Shaw, Brandon M; Shetty, Shashirekha; Smolarek, Teresa A; Spiteri, Elizabeth; Van Ziffle, Jessica; Vance, Gail H; Vnencak-Jones, Cindy L; Williams, Eli S

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

Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing

利用超快速纳米孔基因组测序加速致病变异的鉴定

Goenka, Sneha D; Gorzynski, John E; Shafin, Kishwar; Fisk, Dianna G; Pesout, Trevor; Jensen, Tanner D; Monlong, Jean; Chang, Pi-Chuan; Baid, Gunjan; Bernstein, Jonathan A; Christle, Jeffrey W; Dalton, Karen P; Garalde, Daniel R; Grove, Megan E; Guillory, Joseph; Kolesnikov, Alexey; Nattestad, Maria; Ruzhnikov, Maura R Z; Samadi, Mehrzad; Sethia, Ankit; Spiteri, Elizabeth; Wright, Christopher J; Xiong, Katherine; Zhu, Tong; Jain, Miten; Sedlazeck, Fritz J; Carroll, Andrew; Paten, Benedict; Ashley, Euan A

Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy

利用多组学疫情追踪策略解析 COVID-19 严重程度的复杂相关因素

Parikh, Victoria N; Ioannidis, Alexander G; Jimenez-Morales, David; Gorzynski, John E; De Jong, Hannah N; Liu, Xiran; Roque, Jonasel; Cepeda-Espinoza, Victoria P; Osoegawa, Kazutoyo; Hughes, Chris; Sutton, Shirley C; Youlton, Nathan; Joshi, Ruchi; Amar, David; Tanigawa, Yosuke; Russo, Douglas; Wong, Justin; Lauzon, Jessie T; Edelson, Jacob; Mas Montserrat, Daniel; Kwon, Yongchan; Rubinacci, Simone; Delaneau, Olivier; Cappello, Lorenzo; Kim, Jaehee; Shoura, Massa J; Raja, Archana N; Watson, Nathaniel; Hammond, Nathan; Spiteri, Elizabeth; Mallempati, Kalyan C; Montero-Martín, Gonzalo; Christle, Jeffrey; Kim, Jennifer; Kirillova, Anna; Seo, Kinya; Huang, Yong; Zhao, Chunli; Moreno-Grau, Sonia; Hershman, Steven G; Dalton, Karen P; Zhen, Jimmy; Kamm, Jack; Bhatt, Karan D; Isakova, Alina; Morri, Maurizio; Ranganath, Thanmayi; Blish, Catherine A; Rogers, Angela J; Nadeau, Kari; Yang, Samuel; Blomkalns, Andra; O'Hara, Ruth; Neff, Norma F; DeBoever, Christopher; Szalma, Sándor; Wheeler, Matthew T; Gates, Christian M; Farh, Kyle; Schroth, Gary P; Febbo, Phil; deSouza, Francis; Cornejo, Omar E; Fernandez-Vina, Marcelo; Kistler, Amy; Palacios, Julia A; Pinsky, Benjamin A; Bustamante, Carlos D; Rivas, Manuel A; Ashley, Euan A

Best practices for the interpretation and reporting of clinical whole genome sequencing

临床全基因组测序结果解读和报告的最佳实践

Austin-Tse, Christina A; Jobanputra, Vaidehi; Perry, Denise L; Bick, David; Taft, Ryan J; Venner, Eric; Gibbs, Richard A; Young, Ted; Barnett, Sarah; Belmont, John W; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna A; Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David R; Rehman, Atteeq U; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton M; Rehm, Heidi L

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

XPR1基因突变会导致原发性家族性脑钙化,并伴有磷酸盐输出改变

Legati Andrea, Giovannini Donatella, Nicolas Gaël, López-Sánchez Uriel, Quintáns Beatriz, Oliveira João R M, Sears Renee L, Ramos Eliana Marisa, Spiteri Elizabeth, Sobrido María-Jesús, Carracedo Ángel, Castro-Fernández Cristina, Cubizolle Stéphanie, Fogel Brent L, Goizet Cyril, Jen Joanna C, Kirdlarp Suppachok, Lang Anthony E, Miedzybrodzka Zosia, Mitarnun Witoon, Paucar Martin, Paulson Henry, Pariente Jérémie, Richard Anne-Claire, Salins Naomi S, Simpson Sheila A, Striano Pasquale, Svenningsson Per, Tison François, Unni Vivek K, Vanakker Olivier, Wessels Marja W, Wetchaphanphesat Suppachok, Yang Michele, Boller Francois, Campion Dominique, Hannequin Didier, Sitbon Marc, Geschwind Daniel H, Battini Jean-Luc, Coppola Giovanni

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

SLC20A2基因突变是家族性特发性基底节钙化的主要原因。

Hsu, Sandy Chan; Sears, Renee L; Lemos, Roberta R; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D; Fullerton, Janice M; Adair, John C; Berner, Jon E; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricić, Valerija; Fogel, Brent L; García-Estevez, Daniel; Goldman, Jill; Goudreau, John L; Hopfer, Suellen; Janković, Milena; Jaumà, Serge; Jen, Joanna C; Kirdlarp, Suppachok; Klepper, Joerg; Kostić, Vladimir; Lang, Anthony E; Linglart, Agnès; Maisenbacher, Melissa K; Manyam, Bala V; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B; Mueller, Jennifer; Novaković, Ivana; Paucar, Martin; Paulson, Henry; Simpson, Sheila A; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R; de Oliveira, João R M; Sobrido, María-Jesús; Geschwind, Daniel H; Coppola, Giovanni