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

The expanding clinical and genetic spectrum of DYNC1H1-related disorders

DYNC1H1相关疾病的临床和遗传谱不断扩大

Möller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedláčková, Lucie; Laššuthová, Petra; Libá, Zuzana; Vlčková, Markéta; William, Nancy; Klee, Eric W; Gavrilova, Ralitza H; Lévy, Jonathan; Capri, Yline; Scavina, Mena; Körner, Robert Walter; Valivullah, Zaheer; Weiß, Claudia; Möller, Greta Marit; Frazier, Zoë; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Küsters, Benno; Beggs, Alan H; Sveden, Abigail; Chopra, Maya; Genetti, Casie A; Nicolai, Joost; Dötsch, Jörg; Koy, Anne; Bönnemann, Carsten G; von der Hagen, Maja; von Kleist-Retzow, Jürgen-Christoph; Voermans, Nicol C; Jungbluth, Heinz; Dafsari, Hormos Salimi

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina

Implementation of the Acute Inpatient Medicine-High Reliability, Learning Environment, and Workforce Development Initiative (AIM-HI) in rural Veterans Health Administration hospitals: A mixed methods evaluation protocol

在农村退伍军人健康管理局医院实施急性住院医学高可靠性、学习环境和劳动力发展计划 (AIM-HI):混合方法评估方案

Gilmartin, Heather M; Connelly, Brigid; Daus, Marguerite; Hess, Edward; Leonard, Chelsea; Morgan, Brianne; Nolan, John P Jr; Perry, Paige; Sjoberg, Heidi; Subramaniam, Soumya; Anderson, Melver L 3rd

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

功能和临床研究揭示了CLCN4相关神经发育障碍的病理生理复杂性

Palmer, Elizabeth E; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S; Chedrawi, Aziza; Hashem, Mais O; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance S; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Bénédicte; Abi Warde, Marie-Thérèse; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M; Sands, Tristan T; Wilson, Golder N; Silvertooth, Erin J; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H; Ockeloen, Charlotte W; Pfundt, Rolph; Kroft, Sanne D; Field, Michael; Laranjeira, Francisco E R; Fortuna, Ana M; Soares, Ana R; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D; Bird, Lynne M; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Pölsler, Laura; Campeau, Philippe M; Blazo, Maria; Bijlsma, Emilia K; Rosenfeld, Jill A; Beetz, Christian; Powis, Zöe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikaël; Mohammad, Shekeeb S; Armstrong, Ruth; Kalscheuer, Vera M

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

双等位基因PI4KA变异会导致神经系统疾病、肠道疾病和免疫系统疾病。

Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

钙粘蛋白-连环蛋白复合物 CDH1 和 CTNND1 成员的变异会导致眼睑唇腭裂综合征

Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pitto

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease

在接受酶替代疗法治疗的CRIM阴性婴儿型庞贝病患者中诱导持续免疫耐受

Kazi, Zoheb B; Desai, Ankit K; Berrier, Kathryn L; Troxler, R Bradley; Wang, Raymond Y; Abdul-Rahman, Omar A; Tanpaiboon, Pranoot; Mendelsohn, Nancy J; Herskovitz, Eli; Kronn, David; Inbar-Feigenberg, Michal; Ward-Melver, Catherine; Polan, Michelle; Gupta, Punita; Rosenberg, Amy S; Kishnani, Priya S

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

SON基因的新生截断变异会导致智力障碍、先天性畸形和生长发育迟缓。

Tokita, Mari J; Braxton, Alicia A; Shao, Yunru; Lewis, Andrea M; Vincent, Marie; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Latypova, Xénia; Bézieau, Stéphane; Liu, Pengfei; Motter, Connie S; Melver, Catherine Ward; Robin, Nathaniel H; Infante, Elena M; McGuire, Marianne; El-Gharbawy, Areeg; Littlejohn, Rebecca O; McLean, Scott D; Bi, Weimin; Bacino, Carlos A; Lalani, Seema R; Scott, Daryl A; Eng, Christine M; Yang, Yaping; Schaaf, Christian P; Walkiewicz, Magdalena A

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

17q25.3区域的新生缺失和重复会导致心血管畸形的易感性。

Probst, F J; James, R A; Burrage, L C; Rosenfeld, J A; Bohan, T P; Ward Melver, C H; Magoulas, P; Austin, E; Franklin, A I A; Azamian, M; Xia, F; Patel, A; Bi, W; Bacino, C; Belmont, J W; Ware, S M; Shaw, C; Cheung, S W; Lalani, S R

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

导致先天性膈疝的 ZFPM2 突变和缺失的患病率和外显率

Longoni, M; Russell, M K; High, F A; Darvishi, K; Maalouf, F I; Kashani, A; Tracy, A A; Coletti, C M; Loscertales, M; Lage, K; Ackerman, K G; Woods, S A; Ward-Melver, C; Andrews, D; Lee, C; Pober, B R; Donahoe, P K