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

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes

Multiscore 是一款由人工智能和真实世界临床数据驱动的基因排序工具,在近 10,000 个外显子组和基因组中显示出对孟德尔遗传病分子诊断的高灵敏度。

Ustach, Vincent D; Guillen Sacoto, Maria J; McGee, Stephen; Gainullin, Vladimir G; Arvai, Kevin; Begtrup, Amber; Facio, Flavia M; Greenberg, Matthew; Guðbjartsson, Hákon; McWalter, Kirsty; Millán, Francisca; Monaghan, Kristin; Retterer, Kyle; Richard, Gabriele; Topaz, Nadav; Torene, Rebecca; Johnson, Britt; Laurent, Timothy

Night work during pregnancy and risk of cryptorchidism among male offspring: A Danish nationwide register-based cohort study

孕期夜班工作与男性后代隐睾风险:一项基于丹麦全国登记数据的队列研究

Bertelsen, Charlotte; Begtrup, Luise Mølenberg; Hammer, Paula E C; Bonde, Jens Peter Ellekilde; Garde, Anne Helene; Specht, Ina Olmer; Hansen, Johnni; Meulengracht, Esben Flachs; Sejbæk, Camilla Sandal

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

利用基因组测序扩大新生儿筛查范围,以便及早发现可干预的疾病

Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M; Suchy, Sharon F; Begtrup, Amber; Langley, Katherine G; Hernan, Rebecca; Amendola, Laura M; Boyd, Brenna M; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L; Coffey, Alison J; Devaney, Joseph M; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D Aaron; Kavus, Haluk; Leibel, Rudolph L; Lobritto, Steven J; McGee, Stephen; Milner, Joshua D; McWalter, Kirsty; Monaghan, Kristin G; Orange, Jordan S; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J; Silver, Eric S; Strom, Samuel; Torene, Rebecca I; Williams, Olatundun; Ustach, Vincent D; Wynn, Julia; Taft, Ryan J; Kruszka, Paul; Caggana, Michele; Chung, Wendy K

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

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

Absence during pregnancy in the Danish workforce: occupational, industrial, and temporal trends in a nationwide register-based cohort study

丹麦劳动力中孕期缺勤情况:基于全国登记数据的队列研究中的职业、行业和时间趋势

Begtrup, Luise Mølenberg; Flachs, Esben Meulengracht; Wils, Regitze Sølling; Mehlum, Ingrid Sivesind; Bonde, Jens Peter Ellekilde; Andersen, Astrid Juhl; Frankel, Hannah Nørtoft; Tøttenborg, Sandra Søgaard; Hougaard, Karin Sørig; Sejbaek, Camilla Sandal

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

Occupational Physical Activity Among Pregnant Employees in the Danish Workforce: The PRECISE Occupational Cohort Profile

丹麦劳动力中孕期员工的职业体力活动:PRECISE职业队列概况

Frankel, Hannah Nørtoft; Hærvig, Katia Keglberg; Flachs, Esben Meulengracht; Korshøj, Mette; Bertelsen, Charlotte; Backhausen, Mette; Sejbaek, Camilla Sandal; Begtrup, Luise Mølenberg