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

Deterministic Pilot Risk-Benefit Assessment of Latvian Inland Fish: Safe Weekly Consumption Guidance

拉脱维亚内陆鱼类确定性试点风险效益评估:安全每周消费指南

Rusko, Janis; Murniece, Elizabete; Sibule, Santa; Lazda, Ilva; Zacs, Dzintars; Medne, Ruta; Siksna, Inese

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

27名具有神经发育迟缓表型的个体中,转录共调节因子ZMYM3存在有害的、改变蛋白质的变异

Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P; Natowicz, Marvin; Newberry, Kimberly M; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B; Noyes, Amanda G; Osmond, Matthew; Prijoles, Eloise J; Pugh, Jada; Pullano, Verdiana; Quélin, Chloé; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R; Sellars, Elizabeth A; Scheuerle, Angela E; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy

对FHL1相关还原体肌病骨骼肌成像的综合研究

Mohassel, Payam; Yun, Pomi; Syeda, Safoora; Batra, Abhinandan; Bradley, Andrew J; Donkervoort, Sandra; Monges, Soledad; Cohen, Julie S; Leung, Doris G; Munell, Francina; Ortez, Carlos; Sánchez-Montáñez, Angel; Karachunski, Peter; Brandsema, John; Medne, Livija; Chaudhry, Vinay; Tasca, Giorgio; Foley, A Reghan; Udd, Bjarne; Arai, Andrew E; Walter, Glenn A; Bönnemann, Carsten G

CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability

CFAP45 是一种异位和先天性心脏病基因,它影响纤毛稳定性

E Deniz, M Pasha, M E Guerra, S Viviano, W Ji, M Konstantino, L Jeffries, S A Lakhani, L Medne, C Skraban, I Krantz, M K Khokha

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care

远程医疗儿科遗传护理的临床有效性

Szigety, Katherine M; Crowley, Terrence B; Gaiser, Kimberly B; Chen, Erin Y; Priestley, Jessica R C; Williams, Lydia S; Rangu, Sneha A; Wright, Christina M; Adusumalli, Priyanka; Ahrens-Nicklas, Rebecca C; Calderon, Brandon; Cuddapah, Sanmati R; Edmondson, Andrew; Ficicioglu, Can; Ganetzky, Rebecca; Kalish, Jennifer M; Krantz, Ian D; McDonald-McGinn, Donna M; Medne, Livija; Muraresku, Colleen; Pyle, Louise C; Zackai, Elaine H; Campbell, Ian M; Sheppard, Sarah E

PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

PheNominal:一款与电子病历系统集成的网络应用程序,用于在护理点进行结构化的深度表型分析

Havrilla, James M; Singaravelu, Anbumalar; Driscoll, Dennis M; Minkovsky, Leonard; Helbig, Ingo; Medne, Livija; Wang, Kai; Krantz, Ian; Desai, Bimal R

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

杜氏肌营养不良症和贝克尔肌营养不良症中的内含子突变和早期转录终止

Waldrop, Megan A; Moore, Steven A; Mathews, Katherine D; Darbro, Benjamin W; Medne, Livja; Finkel, Richard; Connolly, Anne M; Crawford, Thomas O; Drachman, Daniel; Wein, Nicolas; Habib, Ali A; Krzesniak-Swinarska, Monika A; Zaidman, Craig M; Collins, James J; Jokela, Manu; Udd, Bjarne; Day, John W; Ortiz-Guerrero, Gloria; Statland, Jeff; Butterfield, Russell J; Dunn, Diane M; Weiss, Robert B; Flanigan, Kevin M

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

700 例临床外显子组测序的分子诊断结果:我们能从回顾性分析中学到什么?

Murrell, Jill R; Nesbitt, Addie May I; Baker, Samuel W; Pechter, Kieran B; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H; DeChene, Elizabeth T; Wu, Chao; Jayaraman, Pushkala; Cao, Kajia; Gonzalez, Michael; Devoto, Marcella; Testori, Alessandro; Monos, John D; Dulik, Matthew C; Conlin, Laura K; Luo, Minjie; McDonald Gibson, Kristin; Guan, Qiaoning; Sarmady, Mahdi; Bhoj, Elizabeth; Helbig, Ingo; Zackai, Elaine H; Bedoukian, Emma C; Wilkens, Alisha; Tarpinian, Jennifer; Izumi, Kosuke; Skraban, Cara M; Deardorff, Matthew A; Medne, Livija; Krantz, Ian D; Krock, Bryan L; Santani, Avni B

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