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

Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.

β-微管蛋白 TUBB 的突变会损害纤毛发生,并与纤毛病样表型相关。

Mollica Antonio, Omer Safia, Forguson Georgiana, Steiman Sydney, Evagelou Sonia L, Naumenko Serhiy, Walker Susan, Li Lu Yi, Teeling Aideen, Lindsay Kyle, Erwood Steven, Visuvanathan Shagana, Vig Anjali, Vernon Robert M, Akman Benjamin, Smith-Hicks Constance, Forman-Kay Julie D, Shroff Manohar, Pai Vivek, Harrison Rene E, Cohn Ronald D, Ivakine Evgueni A

Development and Adaptive Function in Individuals With SCN2A-Related Disorders

SCN2A相关疾病患者的发育和适应功能

Goad, Beatrice Southby; Rodda, Jill; Allen, Meagan; Bamborschke, Daniel; Overmars, Isabella; Kerr, Rachel J; Bushlin, Ittai; Chopra, Saurabh; Coorg, Rohini; Dabscheck, Gabriel; Freeman, Jeremy L; Mackay, Mark T; Devinsky, Orrin; Guerrini, Renzo; Parrini, Elena; Bölsterli, Bigna; Hughes, Inna; Huh, Linda L; Kamate, Mahesh; Kunz, Abby B; Melikishvili, Gia; Miteff, Christina; Myers, Kenneth Alexis; Olson, Heather E; Poduri, Annapurna; Pillai, Sekhar; Riney, Catherine Kate; Sinclair, Adriane; Calvert, Sophie; Reynolds, Thomas Q; Martinez, Ana Roche; Russo, Angelo; Sadleir, Lynette Grant; Sanchez-Albisua, Iciar; Sartori, Stefano; Shea, Stephanie; Smith-Hicks, Constance L; Spooner, Claire G; Thomas, Rhys H; Ardern-Holmes, Simone L; Webster, Richard Ian; Valeriani, Massimiliano; Veggiotti, Pierangelo; Masnada, Silvia; Ware, Tyson L; Yoong, Michael; Berecki, Geza; De Dominicis, Angela; Specchio, Nicola; Trivisano, Marina; Møller, Rikke Steensbjerre; Wolff, Markus; Fazeli, Walid; Scheffer, Ingrid; Howell, Katherine B

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability

远程监测神经遗传综合征和特发性神经发育障碍患者的社交注意力

Frazier, Thomas W; Busch, Robyn M; Klaas, Patricia; Lachlan, Katherine; Jeste, Shafali; Kolevzon, Alexander; Loth, Eva; Harris, Jacqueline; Pepper, Tom; Anthony, Kristin; Graglia, J Michael; Helde, Kathryn; Delagrammatikas, Christal; Bedrosian-Sermone, Sandra; Smith-Hicks, Constance; Sahin, Mustafa; Youngstrom, Eric A; Eng, Charis; Chetcuti, Lacey; Hardan, Antonio Y; Uljarevic, Mirko

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

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders

量化神经发育遗传综合征和特发性神经发育障碍的神经行为特征

Frazier, Thomas W; Busch, Robyn M; Klaas, Patricia; Lachlan, Katherine; Loth, Eva; Smith-Hicks, Constance; Sahin, Mustafa; Hardan, Antonio Y; Uljarevic, Mirko

Finding buried genetic test results in the electronic health record is inefficient and variable across institutions

在电子健康记录中查找隐藏的基因检测结果效率低下,而且不同机构之间的差异也很大。

Veatch, Olivia J; Mathew, Jomol; Rockowitz, Shira; Baldridge, Dustin; Wetzel, Alyssa; Niarchou, Maria; Clarke, Megan; Shankar, Prabhu; Shankar, Suma; Cohen, Julie S; German, Kendell; Berger, Seth; Sellitto, Angela; Oh, Inez Y; Raizada, Rashi; Sliz, Piotr; Soby, Selvin; Kaplarevic, Mihailo; Doherty, Dan; Gropman, Andrea; Smith-Hicks, Constance; Neul, Jeffrey L; Lanzotti, Virginia; Darbro, Benjamin; Chang, Qiang; Sahin, Mustafa; Chopra, Maya

Cortical Vision Impairment (CVI)-informed assessment and treatment of challenging behavior in a child with SCN2A-related disorder

针对患有SCN2A相关障碍的儿童,基于皮质性视觉障碍(CVI)的挑战性行为评估和治疗

Thomas, Benjamin R; Ludwig, Natasha N; Pelletier, Danielle; Bauer, Melanie; Hommer, Rebecca; Smith-Hicks, Constance; O'Connor, Julia T

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

EZH1基因的功能获得性变异和功能丧失性变异会破坏神经发生,并导致显性和隐性神经发育障碍。

Carolina Gracia-Diaz,Yijing Zhou,Qian Yang #,Reza Maroofian #,Paula Espana-Bonilla #,Chul-Hwan Lee,Shuo Zhang,Natàlia Padilla,Raquel Fueyo,Elisa A Waxman,Sunyimeng Lei,Garrett Otrimski,Dong Li,Sarah E Sheppard,Paul Mark,Margaret H Harr,Hakon Hakonarson,Lance Rodan ,Adam Jackson ,Pradeep Vasudevan,Corrina Powel,Shehla Mohammed,Sateesh Maddirevula,Hamad Alzaidan,Eissa A Faqeih,Stephanie Efthymiou,Valentina Turchetti,Fatima Rahman , Shazia Maqbool , Vincenzo Salpietro,Shahnaz H Ibrahim , Gabriella di Rosa , Henry Houlden,Maha Nasser Alharbi , Nouriya Abbas Al-Sannaa , Peter Bauer , Giovanni Zifarelli , Conchi Estaras , Anna C E Hurst , Michelle L Thompson , Anna Chassevent , Constance L Smith-Hicks  ,Xavier de la Cruz  ,Alexander M Holtz,Houda Zghal Elloumi , M J Hajianpour , Claudine Rieubland , Dominique Braun , Siddharth Banka    ; Genomic England Research Consortium; Deborah L French,Elizabeth A Heller,Murielle Saade,Hongjun Song,Guo-Li Ming,Fowzan S Alkuraya  ,Pankaj B Agrawal  ,Danny Reinberg , Elizabeth J Bhoj,Marian A Martínez-Balbás,Naiara Akizu

Clinical and functional consequences of GRIA variants in patients with neurological diseases

GRIA 变异对神经系统疾病患者的临床和功能影响

Wenshu XiangWei, Riley E Perszyk, Nana Liu, Yuchen Xu, Subhrajit Bhattacharya, Gil H Shaulsky, Constance Smith-Hicks, Ali Fatemi, Andrew E Fry, Kate Chandler, Tao Wang, Julie Vogt, Julie S Cohen, Alex R Paciorkowski, Annapurna Poduri, Yuehua Zhang, Shuang Wang, Yuping Wang, Qiongxiang Zhai, Fang Fan

Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes

开发基于网络摄像头采集和人工智能衍生的神经发育遗传综合征社交和认知能力评估指标

Frazier, Thomas W; Busch, Robyn M; Klaas, Patricia; Lachlan, Katherine; Jeste, Shafali; Kolevzon, Alexander; Loth, Eva; Harris, Jacqueline; Speer, Leslie; Pepper, Tom; Anthony, Kristin; Graglia, J Michael; Delagrammatikas, Christal G; Bedrosian-Sermone, Sandra; Smith-Hicks, Constance; Huba, Katie; Longyear, Robert; Green-Snyder, LeeAnne; Shic, Frederick; Sahin, Mustafa; Eng, Charis; Hardan, Antonio Y; Uljarević, Mirko