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

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

BRF2 的双等位基因变异与围产期死亡和颅面畸形有关

Mattioli Francesca, Friðriksdóttir Rún, Hebert Anne, Bassani Sissy, Ibrahim Nazia, Naz Shagufta, Chrast Jacqueline, Pailler-Pradeau Clara, Oddsson Ásmundur, Sulem Patrick, Halldorsson Gisli H, Melsted Páll, Guðbjartsson Daníel F, Palombo Flavia, Pippucci Tommaso, Nouri Nayereh, Seri Marco, Farrow Emily G, Saunders Carol J, Guex Nicolas, Ansar Muhammad, Stefansson Kari, Reymond Alexandre

One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking

单方匹配平台(OSMP):促进罕见病患者匹配的工具

Osmond, Matthew; Price, E Magda; Buske, Orion J; Frew, Mackenzie; Couse, Madeline; Hartley, Taila; Klamann, Conor; Le, Hannah G B H; Xu, Jenny; So, Delvin; Jain, Anjali; Lu, Kevin; Mo, Kevin; Wyllie, Hannah; Wall, Erika; Driver, Hannah G; Cheung, Warren A; Cohen, Ana S A; Farrow, Emily G; Thiffault, Isabelle; Consortium, Care Rare Canada; Turinsky, Andrei L; Pastinen, Tomi; Brudno, Michael; Boycott, Kym M

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

长读长测序是色素失禁症精准诊断的必要条件。

Wojcik, Monica H; Clark, Robin D; Elias, Abdallah F; Genetti, Casie A; Madden, Jill A; Simpson, Dana; Golkar, Linda; Zalusky, Miranda P G; Miller, Angela L; Rodriguez, Araceli; Goffena, Joy; Dash, Camille A; Damaraju, Nikhita; Gibson, Sophia B; Storz, Sophie H R; Anderson, Zachary B; Gustafson, Jonas A; Thiffault, Isabelle; Farrow, Emily G; Pastinen, Tomi; Lin, Jasmine; Huang, Jennifer T; Beggs, Alan H; Agrawal, Pankaj B; Miller, David T; Miller, Danny E

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

长读长测序是色素失禁症精准诊断的必要条件

Wojcik, Monica H; Clark, Robin D; Elias, Abdallah F; Genetti, Casie A; Madden, Jill A; Simpson, Dana; Golkar, Linda; Zalusky, Miranda Pg; Miller, Angela L; Rodriguez, Araceli; Goffena, Joy; Dash, Camille A; Damaraju, Nikhita; Gibson, Sophia B; Storz, Sophia Hr; Anderson, Zach; Gustafson, Jonas A; Thiffault, Isabelle; Farrow, Emily G; Pastinen, Tomi; Lin, Jasmine; Huang, Jennifer; Beggs, Alan H; Agrawal, Pankaj B; Miller, David T; Miller, Danny E

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis

CTNND2相关神经发育疾病的特征、表型-基因型谱以及早期神经发生过程中WNT信号通路的动态变化

Shahsavani, Mansoureh; Wincent, Josephine; Reiter, Ricarda; Soltysova, Andrea; Schuy, Jakob; Helgadottir, Hafdis T; Eisfeldt, Jesper; Ek, Marlene; Ficek, Andrej; Druschke, Lotta; Kusikova, Katarina; Hsieh, Tzung-Chien; Krichhoff, Aron; Krawitz, Peter; Li, Jing-Mei; Webersinke, Gerald; Gorokhova, Svetlana; Missirian, Chantal; Riccardi, Florence; Pavinato, Lisa; Brusco, Alfredo; Mandrile, Giorgia; Trajkova, Slavica; Pintus, Francesco; Gagachovska, Biljana; Waisfisz, Quinten; van Hagen, Annet; Bedoukian, Emma; Izumi, Kosuke; Granger, Leslie; Petersen, Andrea; Oegema, Renske; Huibers, Manon; Demurger, Florence; Brischoux-Boucher, Elise; Julia, Sophie; Banneau, Guillaume; Zavala, M Jesus; Lagos, Catalina; Repetto, Gabriela M; Jouret, Guillaume; Kentros, Catherine; Ganapathi, Mythily; Chung, Wendy K; May, Halie; Hiatt, Susan M; Kelley, Whitley V; Förster, Alisa; Olfe, Lisa; Shillington, Amelle; Dauriat, Benjamin; Mercier, Sandra; Cogné, Benjamin; Engel, Camille; Dahlen, Eric; Rosenberger, Georg; Sauvigny, Thomas; Abdallah, Hamza Hadj; Courtin, Thomas; Stray-Pedersen, Asbjørg; Bernat, John A; Paolillo, Vitoria K; Viso, Florencia Del; Alaimo, Joseph T; Thiffault, Isabelle; Farrow, Emily G; Cohen, Ana S A; Weis, Serge; Duba, Hans-Christoph; Nordgren, Ann; Falk, Anna; Weis, Denisa; Lindstrand, Anna

Pangenome graphs improve the analysis of structural variants in rare genetic diseases

泛基因组图谱有助于分析罕见遗传疾病中的结构变异。

Groza, Cristian; Schwendinger-Schreck, Carl; Cheung, Warren A; Farrow, Emily G; Thiffault, Isabelle; Lake, Juniper; Rizzo, William B; Evrony, Gilad; Curran, Tom; Bourque, Guillaume; Pastinen, Tomi

Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations

儿童基因组学解答:让农村人口更公平地获得罕见病基因组检测

Cohen, Ana S A; Berrios, Courtney D; Zion, Tricia N; Barrett, Cassandra M; Moore, Riley; Boillat, Emelia; Belden, Bradley; Farrow, Emily G; Thiffault, Isabelle; Zuccarelli, Britton D; Pastinen, Tomi

More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?

快速基因组测序十余年:我们现在处于什么阶段?

Saunders, Carol J; Brunelli, Luca; Deem, Michael J; Farrow, Emily G; Hegde, Madhuri; Stark, Zornitza

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

Insurance denials and diagnostic rates in a pediatric genomic research cohort

儿科基因组研究队列中的保险拒付率和诊断率

Zion, Tricia N; Berrios, Courtney D; Cohen, Ana S A; Bartik, Lauren; Cross, Laura A; Engleman, Kendra L; Fleming, Emily A; Gadea, Randi N; Hughes, Susan S; Jenkins, Janda L; Kussmann, Jennifer; Lawson, Caitlin; Schwager, Caitlin; Strenk, Meghan E; Welsh, Holly; Rush, Eric T; Amudhavalli, Shivarajan M; Sullivan, Bonnie R; Zhou, Dihong; Gannon, Jennifer L; Heese, Bryce A; Moore, Riley; Boillat, Emelia; Biswell, Rebecca L; Louiselle, Daniel A; Puckett, Laura M B; Beyer, Shanna; Neal, Shelby H; Sierant, Victoria; McBeth, Macy; Belden, Bradley; Walter, Adam M; Gibson, Margaret; Cheung, Warren A; Johnston, Jeffrey J; Thiffault, Isabelle; Farrow, Emily G; Grundberg, Elin; Pastinen, Tomi