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

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype

CDO1在中枢神经系统发育中的潜在作用:三名携带罕见错义变异并表现出神经系统表型的儿童

Rowe, Leah; Mullegama, Sureni V; Lombardo, Rachel; Barnes, Caitlin; Towner, Shelley; Snyder, Matthew T; Heidlebaugh, Alexis; Riordan, Heather; Begtrup, Amber; Crunk, Amy; Cui, Hong; Dameron, Amy E; Folk, Leandra; Guillen Sacoto, Maria J; Juusola, Jane; Redlich, Olivia L; Reich, Adi; McGivern, Bobbi

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

SLC6A1变异体的致病性、分子功能和表型:一项遗传和临床分析

Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M; Hajianpour, M J; Pal, Deb K; Engelen, Marc; Hagebeuk, Eveline E O; Shinawi, Marwan; Heidlebaugh, Alexis R; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Freed, Amanda S; Futtrup, Line; Balslev, Thomas; Abulí, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R; Tiller, Jacob; Freed, Amber N; Kang, Jing-Qiong; Wuster, Arthur; Møller, Rikke S; Lal, Dennis

The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders

SLC6A1相关神经发育障碍成年患者的表型表现

Johannesen, Katrine M; Nielsen, Jimmi; Sabers, Anne; Isidor, Bertrand; Kattentidt-Mouravieva, Anja A; Zieglgänsberger, Dominik; Heidlebaugh, Alexis R; Oetjens, Kathryn F; Vidal, Anna Abuli; Christensen, Jakob; Tiller, Jacob; Freed, Amber N; Møller, Rikke S; Rubboli, Guido

Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses

针对神经发育/精神疾病遗传病因的人群基因组筛查展现出个人实用性,并获得了参与者的积极反馈

Wain, Karen E; Tolwinski, Kasia; Palen, Emily; Heidlebaugh, Alexis R; Holdren, Karahlyn; Walsh, Lauren Kasparson; Oetjens, Matthew T; Ledbetter, David H; Martin, Christa Lese

Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq(®) cohort

非洲裔、非裔美国人和非裔加勒比海裔测序队列的知识、动机、期望和特征,并与原始 ClinSeq(®) 队列进行比较

Lewis, Katie L; Heidlebaugh, Alexis R; Epps, Sandra; Han, Paul K J; Fishler, Kristen P; Klein, William M P; Miller, Ilana M; Ng, David; Hepler, Charlotte; Biesecker, Barbara B; Biesecker, Leslie G

Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial

网络平台与面对面遗传咨询师在告知外显子测序携带者结果方面的比较:一项随机临床试验

Biesecker, Barbara B; Lewis, Katie L; Umstead, Kendall L; Johnston, Jennifer J; Turbitt, Erin; Fishler, Kristen P; Patton, John H; Miller, Ilana M; Heidlebaugh, Alexis R; Biesecker, Leslie G

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot

在混合型CLIA-研究测序试点项目中,对接受阳性和阴性次要结果评估的受试者进行评估

Sapp, Julie C; Johnston, Jennifer J; Driscoll, Kate; Heidlebaugh, Alexis R; Miren Sagardia, Ane; Dogbe, D Nadine; Umstead, Kendall L; Turbitt, Erin; Alevizos, Ilias; Baron, Jeffrey; Bönnemann, Carsten; Brooks, Brian; Donkervoort, Sandra; Jee, Youn Hee; Linehan, W Marston; McMahon, Francis J; Moss, Joel; Mullikin, James C; Nielsen, Deborah; Pelayo, Eileen; Remaley, Alan T; Siegel, Richard; Su, Helen; Zarate, Carlos; Manolio, Teri A; Biesecker, Barbara B; Biesecker, Leslie G

RFCCtf18 and the Swi1-Swi3 complex function in separate and redundant pathways required for the stabilization of replication forks to facilitate sister chromatid cohesion in Schizosaccharomyces pombe

RFCCtf18 和 Swi1-Swi3 复合物在裂殖酵母中发挥着独立且冗余的作用,它们参与稳定复制叉以促进姐妹染色单体黏连。

Ansbach, Alison B; Noguchi, Chiaki; Klansek, Ian W; Heidlebaugh, Mike; Nakamura, Toru M; Noguchi, Eishi