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

Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis

用于遗传疾病诊断的临床长读长测序检测

Thiffault, Isabelle; Farrow, Emily; Barrett, Cassandra; Scott, Meadow; Ross, Amy; Means, John C; Cheung, Warren A; Johnson, Adam F; Koseva, Boryana; McLennan, Rebecca; Grundberg, Elin; Bi, Chengpeng; Schwendinger-Schreck, Carl; Yoo, Byunggil; Johnston, Jeffrey J; Del Viso, Florencia; Paolillo, Vitoria; Herriges, John; Zhang, Lei; Gibson, Margaret; Cohen, Ana S A; Alaimo, Joe; Saunders, Carol J; Pastinen, Tomi

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

BRF2 的双等位基因变异与围产期死亡和颅面畸形有关

Mattioli Francesca, Friðriksdóttir Rún, Hebert Anne, Bassani Sissy, Ibrahim Nazia, Naz Shagufta, Chrast Jacqueline, Pailler-Pradeau Clara, Oddsson Ásmundur, Sulem Patrick, Halldorsson Gisli H, Melsted Páll, Guðbjartsson Daníel F, Palombo Flavia, Pippucci Tommaso, Nouri Nayereh, Seri Marco, Farrow Emily G, Saunders Carol J, Guex Nicolas, Ansar Muhammad, Stefansson Kari, Reymond Alexandre

Brain malformations and seizures by impaired chaperonin function of TRiC

TRiC分子伴侣功能受损导致脑畸形和癫痫发作

Kraft, Florian; Rodriguez-Aliaga, Piere; Yuan, Weimin; Franken, Lena; Zajt, Kamil; Hasan, Dimah; Lee, Ting-Ting; Flex, Elisabetta; Hentschel, Andreas; Innes, A Micheil; Zheng, Bixia; Julia Suh, Dong Sun; Knopp, Cordula; Lausberg, Eva; Krause, Jeremias; Zhang, Xiaomeng; Trapane, Pamela; Carroll, Riley; McClatchey, Martin; Fry, Andrew E; Wang, Lisa; Giesselmann, Sebastian; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Radio, Francesca Clementina; Bertini, Enrico; Ciolfi, Andrea; Blood, Katherine A; de Sainte Agathe, Jean-Madeleine; Charles, Perrine; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Diderich, Karin; Streff, Haley; Robak, Laurie; Oegema, Renske; van Binsbergen, Ellen; Herriges, John; Saunders, Carol J; Maier, Andrea; Wolking, Stefan; Weber, Yvonne; Lochmüller, Hanns; Meyer, Stefanie; Aleman, Alberto; Polavarapu, Kiran; Nicolas, Gael; Goldenberg, Alice; Guyant, Lucie; Pope, Kathleen; Hehmeyer, Katherine N; Monaghan, Kristin G; Quade, Annegret; Smol, Thomas; Caumes, Roseline; Duerinckx, Sarah; Depondt, Chantal; Van Paesschen, Wim; Rieubland, Claudine; Poloni, Claudia; Guipponi, Michel; Arcioni, Severine; Meuwissen, Marije; Jansen, Anna C; Rosenblum, Jessica; Haack, Tobias B; Bertrand, Miriam; Gerstner, Lea; Magg, Janine; Riess, Olaf; Schulz, Jörg B; Wagner, Norbert; Wiesmann, Martin; Weis, Joachim; Eggermann, Thomas; Begemann, Matthias; Roos, Andreas; Häusler, Martin; Schedl, Tim; Tartaglia, Marco; Bremer, Juliane; Pak, Stephen C; Frydman, Judith; Elbracht, Miriam; Kurth, Ingo

More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?

快速基因组测序十余年:我们现在处于什么阶段?

Saunders, Carol J; Brunelli, Luca; Deem, Michael J; Farrow, Emily G; Hegde, Madhuri; Stark, Zornitza

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

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

SPEN单倍体不足会导致一种神经发育障碍,该障碍与近端1p36缺失综合征重叠,并在女性中伴有X染色体表观遗传特征。

Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernández-García, Andrés; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J; Monteleone, Berrin; Saunders, Carol J; Jean Cuevas, July K; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L; Monteiro, Fabíola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E; Macke, Erica L; Morava, Eva; Klee, Eric W; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M R; Carter, Melissa T; Kalsner, Louisa; de Vries, Bert B A; van Bon, Bregje W; Wevers, Marijke R; Pfundt, Rolph; Stegmann, Alexander P A; Kerr, Bronwyn; Kingston, Helen M; Chandler, Kate E; Sheehan, Willow; Elias, Abdallah F; Shinde, Deepali N; Towne, Meghan C; Robin, Nathaniel H; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E M; Brooks, Alice S; Gribnau, Joost; Boers, Ruben G; Finestra, Teresa Robert; Carter, Lauren B; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M; Barakat, Tahsin Stefan; Graham, John M Jr; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E L M; Sadikovic, Bekim; Scott, Daryl A; Holder, Jimmy Lloyd Jr; Tartaglia, Marco

A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome

在一名患有赫曼斯基-普德拉克综合征的患者中发现了一种新的可能致病性变异。

Lansdon, Lisa A; Chen, Dong; Rush, Eric T; Engleman, Kendra; Zhang, Lei; Saunders, Carol J; Oroszi, Gabor

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

NSIGHT1随机对照试验:快速全基因组测序加速危重婴儿病因诊断

Petrikin, Josh E; Cakici, Julie A; Clark, Michelle M; Willig, Laurel K; Sweeney, Nathaly M; Farrow, Emily G; Saunders, Carol J; Thiffault, Isabelle; Miller, Neil A; Zellmer, Lee; Herd, Suzanne M; Holmes, Anne M; Batalov, Serge; Veeraraghavan, Narayanan; Smith, Laurie D; Dimmock, David P; Leeder, J Steven; Kingsmore, Stephen F

Variation among Consent Forms for Clinical Whole Exome Sequencing

临床全外显子组测序知情同意书的差异

Fowler, Sara A; Saunders, Carol J; Hoffman, Mark A

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

TBCD 基因的双等位基因突变编码微管折叠辅因子 D,扰乱微管动力学并导致早发性脑病

Flex Elisabetta, Niceta Marcello, Cecchetti Serena, Thiffault Isabelle, Au Margaret G, Capuano Alessandro, Piermarini Emanuela, Ivanova Anna A, Francis Joshua W, Chillemi Giovanni, Chandramouli Balasubramanian, Carpentieri Giovanna, Haaxma Charlotte A, Ciolfi Andrea, Pizzi Simone, Douglas Ganka V, Levine Kara, Sferra Antonella, Dentici Maria Lisa, Pfundt Rolph R, Le Pichon Jean-Baptiste, Farrow Emily, Baas Frank, Piemonte Fiorella, Dallapiccola Bruno, Graham John M Jr, Saunders Carol J, Bertini Enrico, Kahn Richard A, Koolen David A, Tartaglia Marco