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

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.

CTLH 成分 MAEA 的缺失会损害 DNA 修复和复制,并导致发育迟缓。

Hough Søren H, Jhujh Satpal S, Awwad Samah W, Lewis Oliver E, Lam Simon, Thomas John C, Mosler Thorsten, Bader Aldo, Bartik Lauren, McKee Shane, Amudhavalli Shivarajan, Colin Estelle, Damseh Nadirah, Clement Emma, Cacheiro Pilar, Majumdar Anirban, Smedley Damian, Fluss Joël, Giannini Rosalinda, Thiffault Isabelle, Zagnoli Vieira Guido, Belotserkovskaya Rimma, Smerdon Stephen J, Beli Petra, Galanty Yaron, Carnie Christopher J, Stewart Grant S, Jackson Stephen P

Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder

长读长高保真基因组测序解析TANGO2缺陷症中逆转录转座子介导的缺失

Sabbagh, Quentin; Villa Tobón, Felipe; Kazemi, Zahra; Lentini, Laura; Dilenge, Marie-Emmanuelle; Buhas, Daniela; Pastinen, Tomi; Thiffault, Isabelle; Bernard, Geneviève

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

肢体异常的分子图谱:诊断率和新的候选基因

Mokhtari, Akram; Charbonneau, Jade; Miranda, Valancy; Jizi, Khadijé; Delrue, Marie-Ange; Egerszegi, Patricia; Thiffault, Isabelle; Campeau, Philippe M

Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis

用于遗传疾病诊断的临床长读长测序检测

Thiffault, Isabelle; Farrow, Emily; Barrett, Cassandra; Scott, Meadow; Ross, Amy; Means, John C; Cheung, Warren A; Johnson, Adam F; Koseva, Boryana; McLennan, Rebecca; Grundberg, Elin; Bi, Chengpeng; Schwendinger-Schreck, Carl; Yoo, Byunggil; Johnston, Jeffrey J; Del Viso, Florencia; Paolillo, Vitoria; Herriges, John; Zhang, Lei; Gibson, Margaret; Cohen, Ana S A; Alaimo, Joe; Saunders, Carol J; Pastinen, Tomi

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

利用HiFi测序技术对高度相似的旁系同源基因进行全基因组分析

Chen, Xiao; Baker, Daniel; Dolzhenko, Egor; Devaney, Joseph M; Noya, Jessica; Berlyoung, April S; Brandon, Rhonda; Hruska, Kathleen S; Lochovsky, Lucas; Kruszka, Paul; Newman, Scott; Farrow, Emily; Thiffault, Isabelle; Pastinen, Tomi; Kasperaviciute, Dalia; Gilissen, Christian; Vissers, Lisenka; Hoischen, Alexander; Berger, Seth; Vilain, Eric; Délot, Emmanuèle; Eberle, Michael A

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter

基于共识的专家建议:白质消失的诊断和临床管理

van Voorst, Romy J; Schoenmakers, Daphne H; Bonkowsky, Joshua L; Vanderver, Adeline; Krägeloh-Mann, Ingeborg; Bernard, Geneviève; Bertini, Enrico; Fatemi, Ali; Sgobbi, Paulo V; Wolf, Nicole I; Groeschel, Samuel; Tonduti, Davide; Sevin, Caroline; Orthmann-Murphy, Jennifer L; Schöls, Ludger; Salsano, Ettore; Brais, Bernard; Jaffe, Nicole; Ter Horst, Kasper W; Hannema, Sabine E; Hayes, Katherine G; Meyburg, Jochen; van Heerde, Marc; Sbrocchi, Anne Marie; van Spaendonk, Rosalina; Thiffault, Isabelle; Hofsteenge, Geesje H; Sudmeier-Broek, Carolina; Timmer, Corrie; Skwirut, Donna; Buck, Allyson; Hollberg, Bret; Chapleau, Ron; Dekker, Hanka; Campbell, Susan G; Abbink, Truus E M; Leferink, Prisca S; van der Knaap, Marjo S

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

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