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

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

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

Managing Gastrointestinal Symptoms Resulting from Treatment with Trofinetide for Rett Syndrome: Caregiver and Nurse Perspectives

管理使用曲非尼肽治疗雷特综合征引起的胃肠道症状:照护者和护士的视角

Moore, Rebecca; Poulsen, Joshua; Reardon, Lindsay; Samples-Morris, Candice; Simmons, Holly; Ramsey, Keri M; Whatley, Meagan L; Lane, Jane B

Exploring the Frontier: The Human Microbiome's Role in Rare Childhood Neurological Diseases and Epilepsy

探索前沿:人类微生物组在罕见儿童神经系统疾病和癫痫中的作用

Belnap, Newell; Ramsey, Keri; Carvalho, Sophia T; Nearman, Lexi; Haas, Hannah; Huentelman, Matt; Lee, Keehoon

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

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

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

CSNK2B:与广泛的神经发育障碍和癫痫严重程度相关

Ernst, Michelle E; Baugh, Evan H; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S; Kushary, Sulagna; Akman, Cigdem I; Heinzen, Erin L; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A; Burrage, Lindsay C; Leduc, Magalie S; Chong, Josephine S C; Bend, Renee; Lyons, Michael J; Lee, Jennifer A; Suwannarat, Pim; Brilstra, Eva; Simon, Marleen; Koopmans, Marije; van Binsbergen, Ellen; Groepper, Daniel; Fleischer, Julie; Nava, Caroline; Keren, Boris; Mignot, Cyril; Mathieu, Sophie; Mancini, Grazia M S; Madan-Khetarpal, Suneeta; Infante, Elena M; Bluvstein, Judith; Seeley, Andrea; Bachman, Kristine; Klee, Eric W; Schultz-Rogers, Laura E; Hasadsri, Linda; Barnett, Sarah; Ellingson, Marissa S; Ferber, Matthew J; Narayanan, Vinodh; Ramsey, Keri; Rauch, Anita; Joset, Pascal; Steindl, Katharina; Sheehan, Theodore; Poduri, Annapurna; Vasquez, Alejandra; Ruivenkamp, Claudia; White, Susan M; Pais, Lynn; Monaghan, Kristin G; Goldstein, David B; Sands, Tristan T; Aggarwal, Vimla