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

ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes

在患有神经发育障碍表型的个体中发现的UBA7基因变异会破坏ISGylation。

Bandi, Venkateshwarlu; Venema, Myrrhe; Wallace, Iona; Mol, Merel O; Nikoncuk, Anita; Schot, Rachel; van Slegtenhorst, Marjon; Bijlsma, Emilia K; Khan, Amjad; White, Susan M; Rius, Rocio; Delatycki, Martin B; Narayanan, Vinodh; Swatek, Kirby N; Barakat, Tahsin Stefan; Bustos, Francisco

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

PPP2R5C基因的致病性新生变异会导致Houge-Janssens综合征谱系内的神经发育障碍。

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

RYBP基因的新生突变与严重的神经发育障碍和先天性异常有关。

Weisz-Hubshman, Monika; Burrage, Lindsay C; Jangam, Sharayu V; Rosenfeld, Jill A; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K; Hernan, Rebecca R; Lim, Foong Y; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K; Wangler, Michael F; Bacino, Carlos; Lee, Brendan

Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes

基因组和表观遗传检测在发育迟缓诊断评估中的整合:鉴别博耶森-福斯曼-莱曼综合征(BFLS)和怀特-克诺汉综合征(WHIKERS)

Ramsey, Keri; Prakash, Supraja; Kerkhof, Jennifer; Sadikovic, Bekim; White, Susan; Naymik, Marcus; Sloan, Jennifer; Bonfitto, Anna; Belnap, Newell; Sanchez-Castillo, Meredith; Jepsen, Wayne; Huentelman, Matthew; Bernes, Saunder; Narayanan, Vinodh; Kaur, Shagun

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy

MAP2K1基因中反复出现的p.H119Y变异扩展了MAP2K1相关RAS病的表型谱。

Grange, Dorothy K; Wegner, Daniel J; Wambach, Jennifer A; Sisco, Kathleen A; Stone, Stephen I; Sheehan, Jonathan H; Ramsey, Keri M; Narayanan, Vinodh; Rauen, Katherine A; Cole, F Sessions

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant

斯奈德-罗宾逊综合征表现为学习障碍、癫痫和骨质疏松症:一种新的SMS基因变异

Leung, Megumi; Sanchez-Castillo, Meredith; Belnap, Newell; Naymik, Marcus; Bonfitto, Anna; Sloan, Jennifer; Hassett, Katie; Jepsen, Wayne M; Sankaramoorthy, Aravind; Stewart, Tracy Murray; Foley, Jackson R; Rangasamy, Sampathkumar; Huentelman, Matthew J; Narayanan, Vinodh; Ramsey, Keri

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

神经发育障碍中雷特综合征样(RTT-L)表型趋同的遗传和蛋白质网络

Frankel, Eric; Podder, Avijit; Sharifi, Megan; Pillai, Roshan; Belnap, Newell; Ramsey, Keri; Dodson, Julius; Venugopal, Pooja; Brzezinski, Molly; Llaci, Lorida; Gerald, Brittany; Mills, Gabrielle; Sanchez-Castillo, Meredith; Balak, Chris D; Szelinger, Szabolcs; Jepsen, Wayne M; Siniard, Ashley L; Richholt, Ryan; Naymik, Marcus; Schrauwen, Isabelle; Craig, David W; Piras, Ignazio S; Huentelman, Matthew J; Schork, Nicholas J; Narayanan, Vinodh; Rangasamy, Sampathkumar

GABRG2 Variants Associated with Febrile Seizures

与热性惊厥相关的GABRG2变异

Hernandez, Ciria C; Shen, Yanwen; Hu, Ningning; Shen, Wangzhen; Narayanan, Vinodh; Ramsey, Keri; He, Wen; Zou, Liping; Macdonald, Robert L

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

ATP6V1A脑病的表型和遗传谱:溶酶体稳态紊乱

Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan; Møller, Rikke S; Hammer, Trine B; Keski Filppula, Riikka; Vieira, Päivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, Anna

Operational Changes and Performance Outcomes: Analysis on Hotels of Five Asia–Pacific Countries

运营变革与绩效结果:对亚太五国酒店的分析

De La Vega, Francisco M; Chowdhury, Shimul; Moore, Barry; Frise, Erwin; McCarthy, Jeanette; Hernandez, Edgar Javier; Wong, Terence; James, Kiely; Guidugli, Lucia; Agrawal, Pankaj B; Genetti, Casie A; Brownstein, Catherine A; Beggs, Alan H; Löscher, Britt-Sabina; Franke, Andre; Boone, Braden; Levy, Shawn E; Õunap, Katrin; Pajusalu, Sander; Huentelman, Matt; Ramsey, Keri; Naymik, Marcus; Narayanan, Vinodh; Veeraraghavan, Narayanan; Billings, Paul; Reese, Martin G; Yandell, Mark; Kingsmore, Stephen F; Ray, Arghya; Ma, Lan