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

Identification of de novo variants from parent-proband duos via long-read sequencing

利用长读长测序技术从父母-先证者配对样本中鉴定新生变异。

Boukas, Leandros; Délot, Emmanuèle C; Pitsava, Georgia; Lambert, Christine; Fanslow, Cairbre; Baybayan, Primo; Belhadj, Sami; Losic, Bojan; Harting, John; Bluske, Krista; LoTempio, Jonathan; Al-Kouatly, Huda B; Karam, Rachid; Rowell, William J; Xiao, Changrui; Vilain, Eric; Berger, Seth I

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

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

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

利用反应性基因注释支持罕见病临床基因组检测结果的解读和报告:来自1000多例病例的经验

Clause, Amanda R; Taylor, Julie P; Rajkumar, Revathi; Bluske, Krista; Bennett, Maren; Amendola, Laura M; Bentley, David R; Taft, Ryan J; Perry, Denise L; Coffey, Alison J

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

对智力障碍/自闭症基因测序中常用基因进行临床有效性评估

Riggs, Erin Rooney; Bingaman, Taylor I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R; Dharmadhikari, Avinash V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R; Hughes, Madeline Y; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aimé; Mah, Michelle; Maloney, Caitlin M; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A; Reble, Emma; Rennie, Olivia; Savatt, Juliann M; Shimelis, Hermela; Siegert, Rebecca K; Sneddon, Tam P; Thaxton, Courtney; Toner, Kelly A; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A S; Miller, David T; Schaaf, Christian P

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

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum

除YWHAE和PAFAH1B1以外的微缺失会导致一种独特的脑白质病:进一步阐明17p13.3微缺失谱

Emrick, Lisa T; Rosenfeld, Jill A; Lalani, Seema R; Jain, Mahim; Desai, Nilesh K; Larson, Austin; Kripps, Kimberly; Vanderver, Adeline; Taft, Ryan J; Bluske, Krista; Perry, Denise; Nagakura, Honey; Immken, LaDonna L; Burrage, Lindsay C; Bacino, Carlos A; Belmont, John W; Network, Undiagnosed Diseases; Lee, Brendan

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

Lineage Tracing Using Cux2-Cre and Cux2-CreERT2 Mice

利用 Cux2-Cre 和 Cux2-CreERT2 小鼠进行谱系追踪

Gil-Sanz, Cristina; Espinosa, Ana; Fregoso, Santiago P; Bluske, Krista K; Cunningham, Christopher L; Martinez-Garay, Isabel; Zeng, Hongkui; Franco, Santos J; Müller, Ulrich

Basal progenitor cells in the embryonic mouse thalamus - their molecular characterization and the role of neurogenins and Pax6

小鼠胚胎丘脑基底祖细胞——它们的分子特征以及神经发生素和Pax6的作用

Wang, Lynn; Bluske, Krista K; Dickel, Lauren K; Nakagawa, Yasushi