Huda Zoghbi
Baylor College of Medicine
H-index: 141
North America-United States
Top articles of Huda Zoghbi
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Functional Evaluation of CIC Missense Mutations Identified in Neuropsychiatric Disorders (S8. 004) | Mark Durham Jason Lucavs Alexander Trostle Hamin Lee Hu Chen | 2024/4/14 | |
Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease. | JCI insight | Lisa Duvick W Michael Southern Kellie A Benzow Zoe N Burch Hillary P Handler | 2024/3/21 |
Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1 | Neuron | Leon Tejwani Neal G Ravindra Changwoo Lee Yubao Cheng Billy Nguyen | 2024/2/7 |
Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1 | Neuron | Stephanie L Coffin Mark A Durham Larissa Nitschke Eder Xhako Amanda M Brown | 2023/2/15 |
Literature-based predictions of Mendelian disease therapies | The American Journal of Human Genetics | Cole A Deisseroth Won-Seok Lee Jiyoen Kim Hyun-Hwan Jeong Ryan S Dhindsa | 2023/10/5 |
Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles | Neuron | Hillary P Handler Lisa Duvick Jason S Mitchell Marija Cvetanovic Molly Reighard | 2023/2/15 |
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels | Genes & Development | Jian Zhou Claudia Cattoglio Yingyao Shao Harini P Tirumala Carlo Vetralla | 2023/10/1 |
Regional vulnerability in a neurodegenerative disease: Delineating SCA1 CNS and muscle therapeutic targets using a conditional mutant ATXN1 mouse. | Biorxiv: the Preprint Server for Biology | L Duvick WM Southern K Benzow HP Handler JS Mitchell | 2023/2/8 |
Atoh1 drives the heterogeneity of the pontine nuclei neurons and promotes their differentiation | Science Advances | Sih-Rong Wu Jessica C Butts Matthew S Caudill Jean-Pierre Revelli Ryan S Dhindsa | 2023/6/30 |
Evolutionarily conserved regulators of tau identify targets for new therapies | Neuron | Jiyoen Kim Maria de Haro Ismael Al-Ramahi Lorena Laura Garaicoechea Hyun-Hwan Jeong | 2023/3/15 |
The RETT syndrome, from clinics to genetics | Journal of the Neurological Sciences | Huda Zoghbi | 2023/12/1 |
MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function | Elife | Sameer S Bajikar Ashley G Anderson Jian Zhou Mark A Durham Alexander J Trostle | 2023/2/27 |
The Atoh1-Cre Knock-In Allele Ectopically Labels a Subpopulation of Amacrine Cells and Bipolar Cells in Mouse Retina | Eneuro | Sih-Rong Wu Huda Y Zoghbi | 2023/11/1 |
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods | Human mutation | Dianalee McKnight Lora Bean Izabela Karbassi Katelynn Beattie Thierry Bienvenu | 2022/8 |
Centers for Mendelian Genomics: A decade of facilitating gene discovery | Samantha M Baxter Jennifer E Posey Nicole J Lake Nara Sobreira Jessica X Chong | 2022/4/1 | |
The transcription factor Pou3f1 sheds light on the development and molecular diversity of glutamatergic cerebellar nuclear neurons in the mouse | Frontiers in Molecular Neuroscience | Joshua Po Han Wu Joanna Yeung Maryam Rahimi-Balaei Sih-Rong Wu Huda Zoghbi | 2022/7/20 |
C. Thomas Caskey (1938–2022) | Science | Andrea Ballabio Huda Zoghbi | 2022/2/25 |
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders | Beverly L Davidson Guangping Gao Elizabeth Berry-Kravis Allison M Bradbury Carsten Bönnemann | 2022/7/6 | |
Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders | Proceedings of the National Academy of Sciences | Jian Zhou Hamdan Hamdan Hari Krishna Yalamanchili Kaifang Pang Amy E Pohodich | 2022/1/25 |
A weakened recurrent circuit in the hippocampus of Rett syndrome mice disrupts long-term memory representations | Neuron | Lingjie He Matthew S Caudill Junzhan Jing Wei Wang Yaling Sun | 2022/5/18 |
