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

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

CACNA1I 功能获得性突变对通道门控的影响各不相同,并导致神经发育障碍。

El Ghaleb, Yousra; Schneeberger, Pauline E; Fernández-Quintero, Monica L; Geisler, Stefanie M; Pelizzari, Simone; Polstra, Abeltje M; van Hagen, Johanna M; Denecke, Jonas; Campiglio, Marta; Liedl, Klaus R; Stevens, Cathy A; Person, Richard E; Rentas, Stefan; Marsh, Eric D; Conlin, Laura K; Tuluc, Petronel; Kutsche, Kerstin; Flucher, Bernhard E

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

明确X连锁MSL3相关疾病的基因型和表型谱

Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P; Callewaert, Bert L; Cereda, Anna; Cousin, Margot A; Del Rey Jimenez, Juan C; Demmer, Laurie; Dsouza, Nikita R; Fleischer, Nicole; Gavrilova, Ralitza H; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A; McEntagart, Meriel; Meeks, Naomi J L; Mittag, Dana; Moore, Harrison; Olsen, Anne K; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D M; Person, Richard E; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J Guillen; Bradley Schaefer, G; Schnur, Rhonda E; Scott, Tiana M; Scott, Daryl A; Serbinski, Carolyn R; Shashi, Vandana; Siu, Victoria M; Stadheim, Barbro Fossøy; Sullivan, Jennifer A; Švantnerová, Jana; Velsher, Lea; Wargowski, David S; Wentzensen, Ingrid M; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T; Meitinger, Thomas; Distelmaier, Felix; Wagner, Matias

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

阐明SETD1B相关综合征的分子和表型谱

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence 2nd; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua; Elting, Mariet W; Polstra, Abeltje M; Schenck, Lauren; Ruzhnikov, Maura R Z; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C; Mosher, Theresa Mihalic; Pastore, Matthew T; McBride, Kim L; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D; de Vries, Bert B A; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R; Klemp, Kara C; Vansenne, Fleur; van Gijn, Marielle E; Quindipan, Catherine; Deardorff, Matthew A; Hamm, J Austin; Putnam, Abbey M; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A; Baptista, Julia; Person, Richard E; Monaghan, Kristin G; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T; Barakat, Tahsin Stefan

Monogenic variants in dystonia: an exome-wide sequencing study

肌张力障碍的单基因变异:一项全外显子组测序研究

Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková, Petra; Roth, Jan; Příhodová, Iva; Adamovičová, Miriam; Ulmanová, Olga; Bechyně, Karel; Danhofer, Pavlína; Veselý, Branislav; Haň, Vladimír; Pavelekova, Petra; Gdovinová, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Švantnerová, Jana; Minár, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H; Pajusalu, Sander; Õunap, Katrin; Schatz, Ulrich A; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilshofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S; Riedhammer, Korbinian M; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E; Zamora, Francisca Millan; Henderson, Lindsay B; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M; Ozelius, Laurie J; Vetro, Annalisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Růžička, Evžen; Cohn, Ronald D; Dyment, David; Chung, Wendy K; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafal; Daumke, Oliver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad; Winkelmann, Juliane

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

USP7基因的致病变异会导致神经发育障碍,表现为语言发育迟缓、行为改变和神经系统异常。

Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren; Wierzba, Jolanta; Strom, Tim M; Parenti, Ilaria; Kaiser, Frank J; Ehmke, Nadja; Schaaf, Christian P

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

TCF20基因变异与神经发育障碍:27例新病例描述及文献综述

Torti, Erin; Keren, Boris; Palmer, Elizabeth E; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J; Andrews, Marisa V; Atkinson, Celia; Au, Margaret; Berry, Susan A; Bowling, Kevin M; Boyle, Jackie; Buratti, Julien; Cathey, Sara S; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F; Finley, Sabra Ledare; Graham, John M Jr; Grange, Dorothy K; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M; Hibbs, Kathleen A; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G; Person, Richard E; Willaert, Rebecca; Solomon, Benjamin D; Juusola, Jane

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

赖氨酰tRNA合成酶功能丧失突变会导致多种脑白质病表型。

Sun, Chong; Song, Jie; Jiang, Yanjun; Zhao, Chongbo; Lu, Jiahong; Li, Yuxin; Wang, Yin; Gao, Mingshi; Xi, Jianying; Luo, Sushan; Li, Meixia; Donaldson, Kevin; Oprescu, Stephanie N; Slavin, Thomas P; Lee, Sansan; Magoulas, Pilar L; Lewis, Andrea M; Emrick, Lisa; Lalani, Seema R; Niu, Zhiyv; Landsverk, Megan L; Walkiewicz, Magdalena; Person, Richard E; Mei, Hui; Rosenfeld, Jill A; Yang, Yaping; Antonellis, Anthony; Hou, Ya-Ming; Lin, Jie; Zhang, Victor W

POGZ truncating alleles cause syndromic intellectual disability

POGZ 截断等位基因会导致综合征型智力障碍

White, Janson; Beck, Christine R; Harel, Tamar; Posey, Jennifer E; Jhangiani, Shalini N; Tang, Sha; Farwell, Kelly D; Powis, Zöe; Mendelsohn, Nancy J; Baker, Janice A; Pollack, Lynda; Mason, Kati J; Wierenga, Klaas J; Arrington, Daniel K; Hall, Melissa; Psychogios, Apostolos; Fairbrother, Laura; Walkiewicz, Magdalena; Person, Richard E; Niu, Zhiyv; Zhang, Jing; Rosenfeld, Jill A; Muzny, Donna M; Eng, Christine; Beaudet, Arthur L; Lupski, James R; Boerwinkle, Eric; Gibbs, Richard A; Yang, Yaping; Xia, Fan; Sutton, V Reid

Molecular diagnostic experience of whole-exome sequencing in adult patients

成人患者全外显子组测序的分子诊断经验

Posey, Jennifer E; Rosenfeld, Jill A; James, Regis A; Bainbridge, Matthew; Niu, Zhiyv; Wang, Xia; Dhar, Shweta; Wiszniewski, Wojciech; Akdemir, Zeynep H C; Gambin, Tomasz; Xia, Fan; Person, Richard E; Walkiewicz, Magdalena; Shaw, Chad A; Sutton, V Reid; Beaudet, Arthur L; Muzny, Donna; Eng, Christine M; Yang, Yaping; Gibbs, Richard A; Lupski, James R; Boerwinkle, Eric; Plon, Sharon E

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

PURA基因突变会导致5q31.3微缺失综合征患者出现严重的婴儿肌张力低下、癫痫发作和脑病。

Lalani, Seema R; Zhang, Jing; Schaaf, Christian P; Brown, Chester W; Magoulas, Pilar; Tsai, Anne Chun-Hui; El-Gharbawy, Areeg; Wierenga, Klaas J; Bartholomew, Dennis; Fong, Chin-To; Barbaro-Dieber, Tina; Kukolich, Mary K; Burrage, Lindsay C; Austin, Elise; Keller, Kory; Pastore, Matthew; Fernandez, Fabio; Lotze, Timothy; Wilfong, Angus; Purcarin, Gabriela; Zhu, Wenmiao; Craigen, William J; McGuire, Marianne; Jain, Mahim; Cooney, Erin; Azamian, Mahshid; Bainbridge, Matthew N; Muzny, Donna M; Boerwinkle, Eric; Person, Richard E; Niu, Zhiyv; Eng, Christine M; Lupski, James R; Gibbs, Richard A; Beaudet, Arthur L; Yang, Yaping; Wang, Meng C; Xia, Fan