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

Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

与肥厚型心肌病相关的基因:ClinGen遗传性心血管疾病基因注释专家组的重新评估

Hespe, Sophie; Waddell, Amber; Asatryan, Babken; Owens, Emma; Thaxton, Courtney; Adduru, Mhy-Lanie; Anderson, Kailyn; Brown, Emily E; Hoffman-Andrews, Lily; Jordan, Elizabeth; Josephs, Katherine; Mayers, Megan; Peters, Stacey; Stafford, Fergus; Bagnall, Richard D; Bronicki, Lucas; Callewaert, Bert; Chahal, C Anwar A; James, Cynthia A; Jarinova, Olga; Landstrom, Andrew P; McNally, Elizabeth M; Murray, Brittney; Muiño-Mosquera, Laura; Parikh, Victoria; Reuter, Chloe; Walsh, Roddy; Wayburn, Bess; Ware, James S; Ingles, Jodie

Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing

了解基因-疾病关系如何影响临床应用:遗传性癌症检测的适应与挑战

Herrera-Mullar, Jennifer; Horton, Carolyn; Weaver, Amybeth; Towne, Meghan; Huang, Jennifer M; VanNoy, Grace E; Harrison, Steven M; Wayburn, Bess

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor C; Gitau, Vanessa N; Byrne, Alicia B; Ajuyah, Pamela; Balzotti, Marie B; Berg, Jonathan S; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan T; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica X; Chopra, Maya; Clause, Amanda R; DiStefano, Marina T; DiTroia, Stephanie; Elnagheeb, Marwa A; Girod, Amanda N; Goel, Himanshu; Golden-Grant, Katie L; Ha, Thuong; Hamosh, Ada; Huang, Jennifer M; Hughes, Madeline Y; Jamuar, Saumya S; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda N T; Leigh, Sarah E; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah R; Milewski, Becky; Moosa, Shahida; Murray, Stephen A; Owens, Emma H; Palmer, Elizabeth E; Palus, Brooke C; Patel, Mayher J; Rajkumar, Revathi; Ratliff, Julie C; Raymond, F Lucy; Della Ripa Rodrigues Assis, Bruno; Sajan, Samin A; Schlachetzki, Zinayida; Schmidt, Sarah A; Stark, Zornitza; Strom, Samuel P; Taylor, Julie P; Thaxton, Courtney; Thrush, Devon L; Toro, Sabrina; Tshering, Kezang C; Vasilevsky, Nicole A; Wayburn, Bess; Webb, Ryan F; O'Donnell-Luria, Anne; Coffey, Alison J

ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy

ClinGen遗传性心血管疾病基因注释专家组:重新评估与肥厚型心肌病相关的基因

Hespe, Sophie; Waddell, Amber; Asatryan, Babken; Owens, Emma; Thaxton, Courtney; Adduru, Mhy-Lanie; Anderson, Kailyn; Brown, Emily E; Hoffman-Andrews, Lily; Jordan, Elizabeth; Josephs, Katherine; Mayers, Megan; Peters, Stacey; Stafford, Fergus; Bagnall, Richard D; Bronicki, Lucas; Callewaert, Bert; Chahal, C Anwar A; James, Cynthia A; Jarinova, Olga; Landstrom, Andrew P; McNally, Elizabeth M; Murray, Brittney; Muiño-Mosquera, Laura; Parikh, Victoria; Reuter, Chloe; Walsh, Roddy; Wayburn, Bess; Ware, James S; Ingles, Jodie

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor; Gitau, Vanessa; Byrne, Alicia; Ajuyah, Pamela; Balzotti, Marie; Berg, Jonathan; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica; Chopra, Maya; Clause, Amanda; DiStefano, Marina; DiTroia, Stephanie; Elnagheeb, Marwa; Girod, Amanda; Goel, Himanshu; Golden-Grant, Katie; Ha, Thuong; Hamosh, Ada; Huang, Jennifer; Hughes, Madeline; Jamuar, Saumya; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda; Leigh, Sarah; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah; Milewski, Becky; Moosa, Shahida; Murray, Stephen; Owens, Emma; Palmer, Emma; Palus, Brooke; Patel, Mayher; Rajkumar, Revathi; Ratliff, Julie; Raymond, F Lucy; Assis, Bruno Della Ripa Rodrigues; Sajan, Samin; Schlachetzki, Zinayida; Schmidt, Sarah; Stark, Zornitza; Strom, Samuel; Taylor, Julie; Thaxton, Courtney; Thrush, Devon; Toro, Sabrina; Tshering, Kezang; Vasilevsky, Nicole; Wayburn, Bess; Webb, Ryan; O'Donnell-Luria, Anne; Coffey, Alison J

Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher

诊断检测实验室是疾病基因发现的重要合作伙伴:GeneMatcher 五年经验

Towne, Meghan C; Rossi, Mari; Wayburn, Bess; Huang, Jennifer M; Radtke, Kelly; Alcaraz, Wendy; Farwell Hagman, Kelly D; Shinde, Deepali N

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

对诊断性外显子组测序的多项发现进行回顾性分析:一半是不同的诊断,一半是重叠的诊断

Smith, Erica D; Blanco, Kirsten; Sajan, Samin A; Hunter, Jesse M; Shinde, Deepali N; Wayburn, Bess; Rossi, Mari; Huang, Jennifer; Stevens, Cathy A; Muss, Candace; Alcaraz, Wendy; Hagman, Kelly D Farwell; Tang, Sha; Radtke, Kelly

DDM1 binds Arabidopsis methyl-CpG binding domain proteins and affects their subnuclear localization

DDM1与拟南芥甲基-CpG结合域蛋白结合,并影响其亚核定位。

Zemach, Assaf; Li, Yan; Wayburn, Bess; Ben-Meir, Hagit; Kiss, Vladimir; Avivi, Yigal; Kalchenko, Vyacheslav; Jacobsen, Steven E; Grafi, Gideon

Neurobiology and Psychiatry: Volume 2

神经生物学与精神病学:第2卷

Kamińska, Katarzyna; Noworyta-Sokołowska, Karolina; Górska, Anna; Rzemieniec, Joanna; Wnuk, Agnieszka; Wojtas, Adam; Kreiner, Grzegorz; Kajta, Małgorzata; Gołembiowska, Krystyna; Seiden, Howard; Belbeck, L W; Wayburn, Edgar; Gray, Marion; Sever, P S; Berkiks, Inssaf; Garcia-Segura, LM; Mesfioui, A; Elhessni, A; Goodman, Raymond E; Medvei, V C; Guay, P; Wharry, S; Ádori, Mónika; Kiss, Endre; Barad, Zsuzsanna; Barabás, Klaudia; Kiszely, Edda; Schneider, Andrea; Kövesdi, Dorottya; Sziksz, Erna; Ábrahám, István M; Matkó, János; Sármay, Gabriella; Larkin, Amy; Maeglin, John; Badiu, Corin MD, PhD; Phatarakijnirund, Voraluck; Guzzetti, Chiara; Spoudeas, Helen; Jacyna, L S; Simpson, J A; Williamson, Peter C

You are extraordinary

你真是太棒了!

Sindelar, C V; Hendsch, Z S; Tidor, B; Charatan, Fred; Adams, J Hume; Peacock, W L; Culpin, Millais; Weeks, B; Welch, R P; Pritchard, Jack; Rideout, J; Rinsler, M G; Radcliffe, Walter; Parsonage, Maurice; Gillespie, J S; Rees, D; Pearson, A J; Sherlock, Sheila; Lennard-Jones, J E; Dukes, C E; Anderson, J R; Davies, D V; Wayburn, Edgar; Taylor, D E M; Rosalki, SB; Dayan, AD; Flynn, F V; Pearson, D; Friedberg, Felix; Fruton, Joseph S; Snell, E H; Lascelles, P T