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

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam S L; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert B A; Dingemans, Alexander J M; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?

对大型语言模型罕见病知识的系统性评估:大型语言模型对罕见病了解多少?

Groza, Tudor; Marcello, Allison J; Carlisle, Tristan; Lim, Weng Khong; Haendel, Melissa; Karnani, Neerja; Robinson, Peter N; Graessner, Holm; Chong, Jessica X; Baynam, Gareth; Jamuar, Saumya Shekhar

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.

细胞建模和拯救一种新的非编码遗传性糖原贮积症病因 IX。

Iyengar Apoorva K, Zou Xue, Dai Jian, Francis Rhodricia A, Safi Alexias, Patterson Karynne, Koch Rebecca L, Clarke Shannon, Beaman M Makenzie, Mohan Shruthi, Chong Jessica X, Bamshad Michael J, Majoros William H, Rehder R Catherine, Bali Deeksha S, Allen Andrew S, Crawford Gregory E, Kishnani Priya S, Reddy Timothy E

GREGoR: accelerating genomics for rare diseases

GREGoR:加速罕见病基因组学研究

Dawood, Moez; Heavner, Ben; Wheeler, Marsha M; Ungar, Rachel A; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A; Chong, Jessica X; Délot, Emmanuèle C; Eichler, Evan E; Lupski, James R; Shojaie, Ali; Talkowski, Michael E; Wagner, Alex H; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T; Carvalho, Claudia M B; Gibbs, Richard A; Gifford, Casey A; May, Susanne; Miller, Danny E; Rehm, Heidi L; Samocha, Kaitlin E; Sedlazeck, Fritz J; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E; Chadwick, Lisa H; Bamshad, Michael J; Montgomery, Stephen B

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

SeqFirst:为危重症新生儿构建公平获得精准基因诊断的机会

Wenger, Tara L; Scott, Abbey; Kruidenier, Lukas; Sikes, Megan; Keefe, Alexandra; Buckingham, Kati J; Marvin, Colby T; Shively, Kathryn M; Bacus, Tamara; Sommerland, Olivia M; Anderson, Kailyn; Gildersleeve, Heidi; Davis, Chayna J; Love-Nichols, Jamie; MacDuffie, Katherine E; Miller, Danny E; Yu, Joon-Ho; Snook, Amy; Johnson, Britt; Veenstra, David L; Parish-Morris, Julia; McWalter, Kirsty; Retterer, Kyle; Copenheaver, Deborah; Friedman, Bethany; Juusola, Jane; Ryan, Erin; Varga, Renee; Doherty, Daniel A; Dipple, Katrina; Chong, Jessica X; Kruszka, Paul; Bamshad, Michael J

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

PPP2R5C基因的致病性新生变异会导致Houge-Janssens综合征谱系内的神经发育障碍。

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

胸主动脉夹层病例和马凡综合征患者中存在非典型剪接变异,但基因检测结果为阴性

Murdock, David R; Guo, Dong-Chuan; DePaolo, John S; Schwarze, Ulrike; Duan, Xue-Yan; Cecchi, Alana C; Marin, Isabella C; Tang, YingYing; Chong, Jessica X; Bamshad, Michael J; Leppig, Kathleen A; Byers, Peter H; Damrauer, Scott M; Milewicz, Dianna M

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

GA4GH表型包语料库:用于基因组诊断和发现的病例级表型分析

Danis, Daniel; Bamshad, Michael J; Bridges, Yasemin; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Carmody, Leigh C; Chimirri, Leonardo; Chong, Jessica X; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J; Graefe, Adam S L; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S; Marcello, Allison J; Mattina, Teresa; Mungall, Christopher J; Munoz-Torres, Monica C; Reese, Justin T; Rehburg, Filip; Reis, Bárbara C S; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F; Zocche, David; Haendel, Melissa A; Robinson, Peter N

Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis

扩大儿科全基因组测序的应用:来自SeqFirst服务提供商的见解,有助于实现精准基因诊断的公平获取。

Yu, Joon-Ho; MacDuffie, Katherine E; Sommerland, Olivia; Theoryn, Tesla; Murali, Priyanka; Anderson, Kailyn; Sikes, Megan; Kruidenier, Lukas; Gildersleeve, Heidi I S; Scott, Abbey; Buckingham, Kati J; McWalter, Kirsty; Kruszka, Paul; Keefe, Alexandra C; Chong, Jessica X; Veenstra, David L; Dipple, Katrina M; Wenger, Tara; Doherty, Dan; Bamshad, Michael J

The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans.

ERBB2 c.1795C>T,p.Arg599Cys 变异与人类左心室流出道梗阻缺陷有关

Ampuja Minna, Ericsson Sabina, Paatero Ilkka, Chowdhury Iftekhar, Villman Jenna, Broberg Martin, Ramste Amanda, Balboa Diego, Ojala Tiina, Chong Jessica X, Bamshad Michael J, Priest James R, Varjosalo Markku, Kivelä Riikka, Helle Emmi