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

A framework for the evaluation and reporting of incidental findings in clinical genomic testing

临床基因组检测中意外发现的评估和报告框架

Brown, Carolyn M; Amendola, Laura M; Chandrasekhar, Anjana; Hagelstrom, R Tanner; Halter, Gillian; Kesari, Akanchha; Thorpe, Erin; Perry, Denise L; Taft, Ryan J; Coffey, Alison J

Correlation between variant allele frequency and mean tumor molecules with tumor burden in patients with solid tumors

实体瘤患者中变异等位基因频率与平均肿瘤分子数和肿瘤负荷的相关性

Kalashnikova, Ekaterina; Aushev, Vasily N; Malashevich, Allyson Koyen; Tin, Antony; Krinshpun, Shifra; Salari, Raheleh; Scalise, Carly Bess; Ram, Rosalyn; Malhotra, Meenakshi; Ravi, Harini; Sethi, Himanshu; Sanchez, Stephanie; Hagelstrom, Robert Tanner; Brevnov, Maxim; Rabinowitz, Matthew; Moshkevich, Solomon; Zimmermann, Bernhard G; Liu, Minetta C; Aleshin, Alexey

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

英国神经系统重复序列扩增疾病诊断的全基因组测序:一项回顾性诊断准确性和前瞻性临床验证研究

Ibañez, Kristina; Polke, James; Hagelstrom, R Tanner; Dolzhenko, Egor; Pasko, Dorota; Thomas, Ellen Rachel Amy; Daugherty, Louise C; Kasperaviciute, Dalia; Smith, Katherine R; Deans, Zandra C; Hill, Sue; Fowler, Tom; Scott, Richard H; Hardy, John; Chinnery, Patrick F; Houlden, Henry; Rendon, Augusto; Caulfield, Mark J; Eberle, Michael A; Taft, Ryan J; Tucci, Arianna

Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers

兄弟二人患有常染色体隐性遗传的ACTG2相关内脏肌病

Mori, Mari; Clause, Amanda R; Truxal, Kristen; Hagelstrom, R Tanner; Manickam, Kandamurugu; Kaler, Stephen G; Prasad, Vinay; Windster, Jonathan; Alves, Maria M; Di Lorenzo, Carlo

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial

全基因组测序对疑似遗传病急性病婴临床管理的影响:一项随机临床试验

Krantz, Ian D; Medne, Livija; Weatherly, Jamila M; Wild, K Taylor; Biswas, Sawona; Devkota, Batsal; Hartman, Tiffiney; Brunelli, Luca; Fishler, Kristen P; Abdul-Rahman, Omar; Euteneuer, Joshua C; Hoover, Denise; Dimmock, David; Cleary, John; Farnaes, Lauge; Knight, Jason; Schwarz, Adam J; Vargas-Shiraishi, Ofelia M; Wigby, Kristin; Zadeh, Neda; Shinawi, Marwan; Wambach, Jennifer A; Baldridge, Dustin; Cole, F Sessions; Wegner, Daniel J; Urraca, Nora; Holtrop, Shannon; Mostafavi, Roya; Mroczkowski, Henry J; Pivnick, Eniko K; Ward, Jewell C; Talati, Ajay; Brown, Chester W; Belmont, John W; Ortega, Julia L; Robinson, Keisha D; Brocklehurst, W Tyler; Perry, Denise L; Ajay, Subramanian S; Hagelstrom, R Tanner; Bennett, Maren; Rajan, Vani; Taft, Ryan J

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

Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome

基因组测序鉴定出三种分子诊断结果,其中包括一名患有Pol III相关脑白质营养不良和费恩戈尔德综合征的个体中COL2A1基因的嵌合变异。

Muirhead, Kayla J; Clause, Amanda R; Schlachetzki, Zinayida; Dubbs, Holly; Perry, Denise L; Hagelstrom, R Tanner; Taft, Ryan J; Vanderver, Adeline

Phenotypic and Imaging Spectrum Associated With WDR45

与WDR45相关的表型和成像谱

Adang, Laura A; Pizzino, Amy; Malhotra, Alka; Dubbs, Holly; Williams, Catherine; Sherbini, Omar; Anttonen, Anna-Kaisa; Lesca, Gaetan; Linnankivi, Tarja; Laurencin, Chloé; Milh, Matthieu; Perrine, Charles; Schaaf, Christian P; Poulat, Anne-Lise; Ville, Dorothee; Hagelstrom, Tanner; Perry, Denise L; Taft, Ryan J; Goldstein, Amy; Vossough, Arastoo; Helbig, Ingo; Vanderver, Adeline

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

USP7基因的致病变异会导致神经发育障碍,表现为语言发育迟缓、行为改变和神经系统异常。

Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren; Wierzba, Jolanta; Strom, Tim M; Parenti, Ilaria; Kaiser, Frank J; Ehmke, Nadja; Schaaf, Christian P

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

临床基因组测序中的拷贝数变异:罕见病和未确诊疾病的应用与解读

Gross, Andrew M; Ajay, Subramanian S; Rajan, Vani; Brown, Carolyn; Bluske, Krista; Burns, Nicole J; Chawla, Aditi; Coffey, Alison J; Malhotra, Alka; Scocchia, Alicia; Thorpe, Erin; Dzidic, Natasa; Hovanes, Karine; Sahoo, Trilochan; Dolzhenko, Egor; Lajoie, Bryan; Khouzam, Amirah; Chowdhury, Shimul; Belmont, John; Roller, Eric; Ivakhno, Sergii; Tanner, Stephen; McEachern, Julia; Hambuch, Tina; Eberle, Michael; Hagelstrom, R Tanner; Bentley, David R; Perry, Denise L; Taft, Ryan J