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

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

INTS11基因的双等位基因变异与一种复杂的神经系统疾病相关。

Tepe, Burak; Macke, Erica L; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A; Schaefer, G Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J; Pais, Lynn S; Neil, Jennifer E; Mochida, Ganeshwaran H; Walsh, Christopher A; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A; Prabhakar, Prab; Gößwein, Sophie; Di Donato, Nataliya; Bertini, Enrico S; Wangler, Michael F; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W; Bellen, Hugo J

Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report

一名38岁患有轻型黏多糖贮积症的女性出现左侧瓣膜性心脏病和视网膜病变:病例报告

Asumda, Faizal Z; Kraker, Jessica A; Thomas, Sarah C; Maleszewski, Joseph; Stone, Edwin M; Lanpher, Brendan C; Schimmenti, Lisa A

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

致病性SPTBN1变异会导致常染色体显性遗传性神经发育综合征。

Margot A Cousin # ,Blake A Creighton # ,Keith A Breau ,Rebecca C Spillmann ,Erin Torti ,Sruthi Dontu ,Swarnendu Tripathi ,Deepa Ajit ,Reginald J Edwards ,Simone Afriyie ,Julia C Bay ,Kathryn M Harper ,Alvaro A Beltran ,Lorena J Munoz ,Liset Falcon Rodriguez ,Michael C Stankewich ,Richard E Person ,Yue Si ,Elizabeth A Normand ,Amy Blevins ,Alison S May ,Louise Bier ,Vimla Aggarwal ,Grazia M S Mancini ,Marjon A van Slegtenhorst ,Kirsten Cremer ,Jessica Becker ,Hartmut Engels ,Stefan Aretz ,Jennifer J MacKenzie ,Eva Brilstra ,Koen L I van Gassen ,Richard H van Jaarsveld ,Renske Oegema ,Gretchen M Parsons ,Paul Mark ,Ingo Helbig ,Sarah E McKeown ,Robert Stratton ,Benjamin Cogne ,Bertrand Isidor ,Pilar Cacheiro ,Damian Smedley ,Helen V Firth ,Tatjana Bierhals ,Katja Kloth ,Deike Weiss ,Cecilia Fairley ,Joseph T Shieh ,Amy Kritzer ,Parul Jayakar ,Evangeline Kurtz-Nelson ,Raphael A Bernier ,Tianyun Wang ,Evan E Eichler ,Ingrid M B H van de Laar ,Allyn McConkie-Rosell ,Marie T McDonald ,Jennifer Kemppainen ,Brendan C Lanpher ,Laura E Schultz-Rogers ,Lauren B Gunderson ,Pavel N Pichurin ,Grace Yoon ,Michael Zech ,Robert Jech ,Juliane Winkelmann ,Michael T Zimmermann ,Brenda Temple ,Sheryl S Moy ,Eric W Klee ,Queenie K-G Tan ,Damaris N Lorenzo

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

AP1G1基因的新生突变和双等位基因变异会导致神经发育障碍,表现为发育迟缓、智力障碍和癫痫。

Usmani, Muhammad A; Ahmed, Zubair M; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A; Lee, Hane; Colao, Emma; Motazacker, M Mahdi; Brigatti, Karlla W; Puffenberger, Erik G; Riazuddin, S Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K; Wagner, Matias; Schultz, Matthew J; Seri, Marco; Kievit, Anneke J A; Perrotti, Nicola; Wassink-Ruiter, J S Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

WASF1相关神经发育障碍的基因型和表型谱的扩展

Srivastava, Siddharth; Macke, Erica L; Swanson, Lindsay C; Coulter, David; Klee, Eric W; Mullegama, Sureni V; Xie, Yili; Lanpher, Brendan C; Bedoukian, Emma C; Skraban, Cara M; Villard, Laurent; Milh, Mathieu; Leppert, Mary L O; Cohen, Julie S

Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria

D-2-羟基戊二酸尿症患者出现双侧硬膜下血肿和视网膜出血,表现类似非意外创伤

Perales-Clemente, Ester; Hewitt, Angela L; Studinski, April L; Tillema, Jan-Mendelt; Laxen, William J; Oglesbee, Devin; Graff, Arne H; Rinaldo, Piero; Lanpher, Brendan C

A Cerebrovascular Accident Presenting With Bilateral Vocal Cord Paresis

脑血管意外伴双侧声带麻痹

Wiseman, Kyle; Gor, Dhairya; Upadrasta, Gautham; Udongwo, Ndausung; Lanpher, Kara; Douedi, Steven; Patel, Swapnil V

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

神经发育障碍和癌症中BRPF1-KAT6复合物介导的组蛋白H3丙酰化不足

Kezhi Yan ,Justine Rousseau ,Keren Machol ,Laura A Cross ,Katherine E Agre ,Cynthia Forster Gibson ,Anne Goverde ,Kendra L Engleman ,Hannah Verdin ,Elfride De Baere ,Lorraine Potocki ,Dihong Zhou ,Maxime Cadieux-Dion ,Gary A Bellus ,Monisa D Wagner ,Rebecca J Hale ,Natacha Esber ,Alan F Riley ,Benjamin D Solomon ,Megan T Cho ,Kirsty McWalter ,Roy Eyal ,Meagan K Hainlen ,Bryce A Mendelsohn ,Hillary M Porter ,Brendan C Lanpher ,Andrea M Lewis ,Juliann Savatt ,Isabelle Thiffault ,Bert Callewaert ,Philippe M Campeau ,Xiang-Jiao Yang

Clinical utility of genomic sequencing: a measurement toolkit

基因组测序的临床应用:测量工具包

Hayeems, Robin Z; Dimmock, David; Bick, David; Belmont, John W; Green, Robert C; Lanpher, Brendan; Jobanputra, Vaidehi; Mendoza, Roberto; Kulkarni, Shashi; Grove, Megan E; Taylor, Stacie L; Ashley, Euan

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

新发TBR1变异导致伴有智力障碍和自闭症特征的神经认知表型:25例新病例报告及文献综述

Nambot, Sophie; Faivre, Laurence; Mirzaa, Ghayda; Thevenon, Julien; Bruel, Ange-Line; Mosca-Boidron, Anne-Laure; Masurel-Paulet, Alice; Goldenberg, Alice; Le Meur, Nathalie; Charollais, Aude; Mignot, Cyril; Petit, Florence; Rossi, Massimiliano; Metreau, Julia; Layet, Valérie; Amram, Daniel; Boute-Bénéjean, Odile; Bhoj, Elizabeth; Cousin, Margot A; Kruisselbrink, Teresa M; Lanpher, Brendan C; Klee, Eric W; Fiala, Elise; Grange, Dorothy K; Meschino, Wendy S; Hiatt, Susan M; Cooper, Gregory M; Olivié, Hilde; Smith, Wendy E; Dumas, Meghan; Lehman, Anna; Inglese, Cara; Nizon, Mathilde; Guerrini, Renzo; Vetro, Annalisa; Kaplan, Eitan S; Miramar, Dolores; Van Gils, Julien; Fergelot, Patricia; Bodamer, Olaf; Herkert, Johanna C; Pajusalu, Sander; Õunap, Katrin; Filiano, James J; Smol, Thomas; Piton, Amélie; Gérard, Bénédicte; Chantot-Bastaraud, Sandra; Bienvenu, Thierry; Li, Dong; Juusola, Jane; Devriendt, Koen; Bilan, Frederic; Poé, Charlotte; Chevarin, Martin; Jouan, Thibaud; Tisserant, Emilie; Rivière, Jean-Baptiste; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Dobyns, William B; Hevner, Robert; Thauvin-Robinet, Christel