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Audrey Thurm

national institutes of health

58H指数
301论文数
1.5W被引数
收录论文 139
发表时间
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Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study钴胺素相关再甲基化障碍：妊娠结局与产前治疗—新病例及文献研究
errJournal of Inherited Metabolic Disease
IF3.8
err2026-09-06
err0
PREAI
errKarolina M. Stepien; Jolanta Sykut-Cegielska; Jennifer Sloan; Flavia Piazzon; Sarah Bick; Juliette Bouchereau; Edwin C. Ferren; Nina Gold; Apolline Imbard; Mirian C. H. Janssen; Pavel Jesina; Lisa A. Joseph; Amanda Krzywdzińska-Rogowska; Louise Lapagesse; Fanny Mochel; Carol Van Ryzin; Manuel Schiff; Ida Vanessa Schwartz; Audrey Thurm; Wadih M. Zein; Charles P. Venditti; Martina Huemer; Irini Manoli
err分享
err收藏
Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease前瞻性飞行员安全性与可行性研究：针对CLN3疾病患儿的视-听转换设备
errOrphanet Journal of Rare Diseases
IF3.5
err2026-04-03
err0
errOAAI
errThuy Tien Nguyen; Andrea Munoz; Kisha Jenkins; Ibukun Agbede; Wadih M. Zein; Laryssa A. Huryn; Brian P. Brooks; Jennifer Chisholm; Julie Christensen; Christopher Zalewski; M. Teresa Magone; Colby Chlebowski; Audrey Thurm; An N. Dang Do
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err收藏
Catatonia in Autism and Neurodevelopmental Disorders: A Scoping Review for Advancing Identification, Practice, and Research自闭症和神经发育障碍中的紧张症：一项旨在推进识别、实践和研究的范围综述
errjournal of the american academy of child & adolescent psychiatry
IF0
err2026-03-25
err0
errOAAI
errPilar Trelles; Tess Levy; Sonal Jain; Bonnie Lerman; Kate Friedman; Wendy K. Chung; Kelli C. Dominick; Kacie Dunham-Carr; Martine Lamy; April R. Levin; James Luccarelli; Ryan O'Connor; Chase Samsel; Joshua R. Smith; Siddharth Srivastava; Audrey Thurm; Matthew Siegel
err分享
err收藏
In-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome威廉斯综合征个体韦氏（Wechsler）表现能力的深度剖面分析与发展趋势
errChild Neuropsychology
IF1.9
err2025-12-01
err0
PREAI
errFarmer, Cristan; Klein-Tasman, Bonita P.; Chun, Ashley; Giserman-Kiss, Ivy; Joseph, Lisa; Chlebowski, Colby; Kozel, Beth A.; Thurm, Audrey E.
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The Developmental Landscape of Children with Uveal Coloboma and Its Relationship with Clinical Phenotype and Genetics先天性脉络膜缺损患儿的发育状况及其与临床表型和遗传学的关系
errAmerican Journal of Ophthalmology
IF4.2
err2025-11-15
err0
PREAI
errBrian P. Brooks; Alexandra T. Hehn; Delphine Blain; Cristan Farmer; Lisa A. Joseph; Edythe Wiggs; Laura Segalà; Bin Guan; Audrey Thurm; Ananya S. Pathapadu
err分享
err收藏
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational StudyX连锁肌酸转运蛋白缺乏症男性患者的纵向特征分析：多年观察研究的最终结果
errPediatric Neurology
IF2.1
err2025-11-01
err0
errOAAI
errMiller, Judith S.; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A.; Becker, Lindsey; Bennett, Amanda E.; Berry, Leandra N.; Berry-Kravis, Elizabeth M.; Bruchey, Aleksandra; Byars, Anna W.; Cimms, Tricia; Cecil, Kim M.; Covello, Maxine; Cubit, Laura S.; Das, Tanvi; Davis, Robert J.; Drye, Madison; Ficicioglu, Can; Fulton, John B.; Goin-Kochel, Robin P.; Guthrie, Whitney; Hallinan, Barbara E.; Hannah-Shmouni, Fady; Gustafson, Kathryn E.; Koeberl, Dwight D.; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D.; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A.; Stone, Caitlin; Sullivan, Nancy R.; Sutton, V. Reid; Thomas, Rebecca P.; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey
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The Developmental Assessment of Social Communication Ability (DASCA): initial creation and psychometric description社会沟通能力发育评估量表（DASCA）：初步创建与心理测量学描述
errMolecular Autism
IF5.5
err2025-10-18
err0
errOAAI
errAaron J. Kaat; Audrey Thurm; Cristan Farmer; Shuting Zheng; Sheila Ghods; Stelios Georgiades; Stephen Kanne; Shrikanth Narayanan; Somer L. Bishop
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Ages of sitting and walking milestone attainment in typically developing children worldwide: protocol for a scoping review全球典型发育儿童坐和行走里程碑达成年龄：范围综述方案
errBMJ OPEN
IF2.3
err2025-09-12
err0
errOAAI
errWickstrom, Jordan; Choudhry, Izza; Leone, Emma J.; Piergies, Antonia M. H.; Das, Tanvi; Chenowith, Alexandra; Hehn, Alexandra; Friedman, Erica B.; Livinski, Alicia A.; Silfen, Kate; Shad, Aziza; Iverson, Jana M.; Thurm, Audrey
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err收藏
Leveraging clinical sleep data across multiple pediatric cohorts for insights into neurodevelopment: the Retrospective Analysis of Sleep in Pediatric (RASP) cohorts study利用多个儿科队列的临床睡眠数据以深入了解神经发育：儿科睡眠回顾性分析（RASP）队列研究
errSLEEP
IF4.9
err2025-08-01
err0
PREAI
errGong, Naihua N.; Mahat, Aditya; Ahmad, Samya; Glaze, Daniel; Maletic-Savatic, Mirjana; Mcginley, Matthew; Morse, Anne Marie; Rodriguez, Alcibiades J.; Thurm, Audrey; Redline, Susan; Maski, Kiran; Davis, Peter; Purcell, Shaun; Buckley, Ashura
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The interplay between brain and behavior during development: A multisite effort to generate and share simulated datasets脑与行为在发育过程中的相互作用：一项多中心努力，旨在生成和共享模拟数据集
errSCIENTIFIC DATA
IF6.9
err2025-03-21
err0
errOAAI
errSadeghi, Neda; van der Velpen, Isabelle F.; Baker, Bradley T.; Batta, Ishaan; Cahill, Kyle J.; Genon, Sarah; Mccormick, Ethan; Michel, Lea C.; Moraczewski, Dustin; Seraji, Masoud; Shaw, Philip; Silva, Rogers F.; Soleimani, Najme; Sprooten, Emma; Sorensen, Oystein; Thomas, Adam G.; Thurm, Audrey; Zhou, Zi-Xuan; Calhoun, Vince D.; Kievit, Rogier; Plachti, Anna; Zuo, Xi-Nian; White, Tonya
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DSM-5 based algorithms for the Autism Diagnostic Interview-Revised for children ages 4–17 years基于DSM-5的儿童自闭症诊断访谈修订版算法，适用于4至17岁儿童
errJournal of Child Psychology and Psychiatry
IF7
err2025-03-18
err0
errOAAI
errLinnea A. Lampinen; Shuting Zheng; Lindsay Olson; Vanessa H. Bal; Audrey E. Thurm; Amy N. Esler; Stephen M. Kanne; So Hyun Kim; Catherine Lord; China Parenteau; Kerri P. Nowell; Jane E. Roberts; Nicole Takahashi; Somer L. Bishop
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err收藏
Differences in sleep EEG coherence and spindle metrics in toddlers with and without receptive/expressive language delay: a prospective observational study
errJOURNAL OF NEURODEVELOPMENTAL DISORDERS
IF4
err2025-02-22
err0
errOAAI
errHong, Xinyi; Farmer, Cristan; Kozhemiako, Nataliia; Holmes, Gregory L.; Thompson, Lauren; Manwaring, Stacy; Thurm, Audrey; Buckley, Ashura
err分享
err收藏
Brain Morphometry of Toddlers With Language Delay: An Exploratory Study语言发育迟缓幼儿的脑形态测量学研究：一项探索性研究
errINFANT AND CHILD DEVELOPMENT
IF2.9
err2025-01-23
err0
errOAAI
errFilippi, Courtney A.; Smith, Elizabeth; Redcay, Elizabeth; Hazlett, Heather; Thompson, Lauren; Manwaring, Stacy S.; D'Souza, Precilla; Thurm, Audrey
err分享
err收藏
Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline
errPEDIATRIC RESEARCH
IF3.1
err2024-12-18
err1
errOAAI
errMontealegre Sanchez, Gina A.; Arrigoni, Lauren E.; Yonts, Alexandra B.; Rubenstein, Kevin B.; Bost, James E.; Wolff, Max T.; Barrix, Mallory C.; Bandettini, W. Patricia; Boateng, Bema; Bulas, Dorothy I.; Burklow, Thomas R.; Carlyle, Kayla P.; Chen, Marcus; Das, Sanchita; Dewar, Robin L.; Dixon, Austin A.; Edu, Maureen A.; Falik, Rachel L.; Geslak, Monika L.; Gierdalski, Marcin; Harahsheh, Ashraf S.; Herbert, Linda J.; Highbarger, Jeroen; Huq, Saira R.; Ko, Arthur; Koumbourlis, Anastassios C.; Lacey, Stephanie R.; Lipton, Andrew J.; Monaghan, Maureen; Ndour, Anta S.; Olivieri, Laura J.; Pillai, Dinesh K.; Rehm, Catherine A.; Sable, Craig A.; Sachdev, Vandana; Thurm, Audrey E.; Truong, Uyen T.; Turkbey, Evrim B.; Vilain, Eric; Weyers, Shera; White, Jacob S.; Williams, Abigail A.; Zember, Jonathan; Liang, C. Jason; Delaney, Meghan; Batshaw, Mark L.; Notarangelo, Luigi D.; Wessel, David L.; Barron, Karyl; Debiasi, Roberta L.
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Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-09-01
err0
PREAI
errLuke, Rachel A.; Cawley, Niamh X.; Rahhal, Samar; Selvaraman, Aishwarya; Thurm, Audrey; Wassif, Christopher A.; Porter, Forbes D.
err分享
err收藏
Spindle chirp and other sleep oscillatory features in young children with autism
errSLEEP MEDICINE
IF3.4
err2024-07-01
err2
errOAAI
errCumming, Drew; Kozhemiako, Nataliia; Thurm, Audrey E.; Farmer, Cristan A.; Purcell, Shaun; Buckley, Ashura W.
err分享
err收藏
GM1 gangliosidosis type II: Results of a 10-year prospective study
errGENETICS IN MEDICINE
IF6.2
err2024-07-01
err2
errOAAI
errD'Souza, Precilla; Farmer, Cristan; Johnston, Jean M.; Han, Sangwoo T.; Adams, David; Hartman, Adam L.; Zein, Wadih; Huryn, Laryssa A.; Solomon, Beth; King, Kelly; Jordan, Christopher P.; Myles, Jennifer; Nicoli, Elena-Raluca; Rothermel, Caroline E.; Algarin, Yoliann Mojica; Huang, Reyna; Quimby, Rachel; Zainab, Mosufa; Bowden, Sarah; Crowell, Anna; Buckley, Ashura; Brewer, Carmen; Regier, Debra S.; Brooks, Brian P.; Acosta, Maria T.; Baker, Eva H.; Vezina, Gilbert; Thurm, Audrey; Tifft, Cynthia J.
err分享
err收藏
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndromePhelan-McDermid综合征癫痫发作的临床、遗传和认知相关性
errJOURNAL OF NEURODEVELOPMENTAL DISORDERS
IF4
err2024-05-10
err0
errOAAI
errLevy, Tess; Gluckman, Jacob; Siper, Paige M.; Halpern, Danielle; Zweifach, Jessica; Filip-Dhima, Rajna; Holder Jr, J. Lloyd; Trelles, M. Pilar; Johnson, Kristina; Bernstein, Jonathan A.; Berry-Kravis, Elizabeth; Powell, Craig M.; Soorya, Latha Valluripalli; Thurm, Audrey; Buxbaum, Joseph D.; Sahin, Mustafa; Kolevzon, Alexander; Srivastava, Siddharth
err分享
err收藏
Hydroxocobalamin dose intensification improves ocular, neurological and biochemical outcomes in CBLC deficiency
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errSloan, Jennifer; Zein, Wadih; Thurm, Audrey; Hall, Camryn; Van Ryzin, Carol; Ferry, Susan; Gebremariam, Abigael; Myles, Jennifer; Huryn, Laryssa; Brooks, Brian; Manoli, Irini; Venditti, Charles
err分享
err收藏
Intravenous delivery of AAV9-GLB1 gene therapy for GM1 gangliosidosis: An interim analysis
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errD'Souza, Precilla; Johnston, Jean M.; Thurm, Audrey; Farmer, Cristan; Gross, Amanda L.; Acosta, Maria T.; Tifft, Cynthia
err分享
err收藏

研究方向

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合作学者
合作期刊
D
Daniel H. Geschwind
H 指数: 188 · 论文数: 968
E
Edward T. Bullmore
H 指数: 184 · 论文数: 1.2K
F
Francis S. Collins
H 指数: 182 · 论文数: 839
T
Terho Lehtimäki
H 指数: 178 · 论文数: 1.9K
A
Aarno Palotie
H 指数: 171 · 论文数: 1.2K
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