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

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines

一种新的多系统ERCC1肝肾综合征:来自临床队列、分子发病机制和治疗指南的见解

White, Susan M; Wondergem, Annelotte P; Breet, Isa; Dittmaier, Maren; Bell, Katrina; Richmond, Christopher M; Hardikar, Winita; Bhatia, Kanika; Quinlan, Catherine; Orchard, David; D'Souza, Areetha; Chazin, Walter J; Smith, Christopher; Sparkes, Rebecca; Lam, Simon; Carter, Alexandra; Hopkin, Robert J; Khendek, Leticia; Sullivan, Bonnie R; Becher, Naja; Simonsen, Anne Katrine W; Kvistgaard, Helene; Dempsey, Katherine; Miethke, Alexander G; Gregersen, Pernille Axél; Phillips, Eliza; Luijsterburg, Martijn S

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

KCNB2单等位基因变异会导致由通道失活改变引起的神经发育综合征。

Bhat, Shreyas; Rousseau, Justine; Michaud, Coralie; Lourenço, Charles Marques; Stoler, Joan M; Louie, Raymond J; Clarkson, Lola K; Lichty, Angie; Koboldt, Daniel C; Reshmi, Shalini C; Sisodiya, Sanjay M; Hoytema van Konijnenburg, Eva M M; Koop, Klaas; van Hasselt, Peter M; Démurger, Florence; Dubourg, Christèle; Sullivan, Bonnie R; Hughes, Susan S; Thiffault, Isabelle; Tremblay, Elisabeth Simard; Accogli, Andrea; Srour, Myriam; Blunck, Rikard; Campeau, Philippe M

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

MARK2 变异通过下调 WNT/β-catenin 信号通路导致自闭症谱系障碍

Gong Maolei, Li Jiayi, Qin Zailong, Machado Bressan Wilke Matheus Vernet, Liu Yijun, Li Qian, Liu Haoran, Liang Chen, Morales-Rosado Joel A, Cohen Ana S A, Hughes Susan S, Sullivan Bonnie R, Waddell Valerie, van den Boogaard Marie-José H, van Jaarsveld Richard H, van Binsbergen Ellen, van Gassen Koen L, Wang Tianyun, Hiatt Susan M, Amaral Michelle D, Kelley Whitley V, Zhao Jianbo, Feng Weixing, Ren Changhong, Yu Yazhen, Boczek Nicole J, Ferber Matthew J, Lahner Carrie, Elliott Sherr, Ruan Yiyan, Mignot Cyril, Keren Boris, Xie Hua, Wang Xiaoyan, Popp Bernt, Zweier Christiane, Piard Juliette, Coubes Christine, Mau-Them Frederic Tran, Safraou Hana, Innes A Micheil, Gauthier Julie, Michaud Jacques L, Koboldt Daniel C, Sylvie Odent, Willems Marjolaine, Tan Wen-Hann, Cogne Benjamin, Rieubland Claudine, Braun Dominique, McLean Scott Douglas, Platzer Konrad, Zacher Pia, Oppermann Henry, Evenepoel Lucie, Blanc Pierre, El Khattabi Laïla, Haque Neshatul, Dsouza Nikita R, Zimmermann Michael T, Urrutia Raul, Klee Eric W, Shen Yiping, Du Hongzhen, Rappaport Leonard, Liu Chang-Mei, Chen Xiaoli

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

碱性螺旋-环-螺旋转录因子BHLHE22的单等位基因和双等位基因变异会导致胼胝体发育不全、智力障碍、肌张力和运动异常等神经发育障碍。

Le, Carolyn; Argilli, Emanuela; George, Elizabeth; Kalaycı, Tuğba; Uyguner, Zehra Oya; Karaman, Birsen; Demirören, Tanju; DiTroia, Stephanie; Heron, Delphine; Sabatier, Isabelle; Rodan, Lance H; Girisha, Katta Mohan; Radhakrishnan, Periyasamy; Saunders, Carol; Sullivan, Bonnie; Fleming, Emily; Alvi, Javeria Raza; Sultan, Tipu; Houlden, Henry; Efthymiou, Stephanie; Sacoto, Maria J Guillen; Goodman, Melanie; Pierron, Lucie; De Sainte-Agathe, Jean-Madeleine; Durr, Alexandra; Sherr, Elliott H

Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion

跨物种分析表明,线粒体失调是精神分裂症相关 3q29 缺失的功能后果

Ryan H Purcell, Esra Sefik, Erica Werner, Alexia T King, Trenell J Mosley, Megan E Merritt-Garza, Pankaj Chopra, Zachary T McEachin, Sridhar Karne, Nisha Raj, Brandon J Vaglio, Dylan Sullivan, Bonnie L Firestein, Kedamawit Tilahun, Maxine I Robinette, Stephen T Warren, Zhexing Wen, Victor Faundez, S

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

Macrocephaly and developmental delay caused by missense variants in RAB5C

RAB5C基因错义变异导致巨头畸形和发育迟缓

Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Płoski, Rafal; Pienkowski, Victor Murcia; Kłosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T; Helbig, Catherine; Ellis, Colin A; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Adès, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A; Grant, Barth D; Raizen, David; van Haaften, Gijs; Pak, Stephen C; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter

Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion

跨物种转录组分析表明,线粒体失调是精神分裂症相关 3q29 缺失的功能性后果

Ryan H Purcell, Esra Sefik, Erica Werner, Alexia T King, Trenell J Mosley, Megan E Merritt-Garza, Pankaj Chopra, Zachary T McEachin, Sridhar Karne, Nisha Raj, Brandon J Vaglio, Dylan Sullivan, Bonnie L Firestein, Kedamawit Tilahun, Maxine I Robinette, Stephen T Warren, Zhexing Wen, Victor Faundez, S

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

HNRNP基因的罕见有害突变会导致共同的神经发育障碍

Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E H; van Gassen, Koen L I; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan E