Huda Y. Zoghbi

Also affiliated with Baylor College of Medicine, Neurological Research Institute, Bio Composants Médicaux (France), Texas Children's Hospital, Baylor Genetics

Biochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 5%percentile

0.424Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Pangenome discovery of missing autism variants

medRxiv(2025)10.1101/2025.07.21.25331932

Top 63%

0.216DataRank

Top 63%3 citations

Jiadong Lin, Michelle D. Noyes, Young-Jun Kwon, Isaac Wong, Nidhi Koundinya +23 more

Papers

Driven by 51 papers — median percentile 36. Top paper: “Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome”.

Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome

eLife(2020)10.7554/elife.52981

N/A

1.4DataRank · unranked

58 citations

Kerstin Ure, Ying‐Wooi Wan, Chongyuan Luo, Alexander J. Trostle, Wei Wang +12 more

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genetics in Medicine(2014)10.1038/gim.2014.22

N/A

0.821DataRank · unranked

238 citations

Vandana Shashi, Matthew Bainbridge, Michael J. Gambello, Thomas Bast, Rebecca Crimian +29 more

Dual targeting of brain region‐specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1

The EMBO Journal(2021)10.15252/embj.2020106106

N/A

0.680DataRank · unranked

17 citations

Laura A. Lavery, Maxime W.C. Rousseaux, Eric B Rutledge, Youjin Jang, Ying‐Wooi Wan +15 more

MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function

eLife(2023)10.7554/elife.83806

N/A

0.546DataRank · unranked

14 citations

Ashley G. Anderson, Jian Zhou, Mark A. Durham, Alexander J. Trostle, Ying‐Wooi Wan +3 more

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Genome Medicine(2024)10.1186/s13073-024-01411-7

N/A

0.474DataRank · unranked

17 citations

Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi +38 more

Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels

Human Molecular Genetics(2024)10.1093/hmg/ddae135

N/A

0.383DataRank · unranked

10 citations

Yehezkel Sztainberg, Alexander J. Trostle, Harini P Tirumala, Ying‐Wooi Wan, Caroline L Harrop +10 more

Pangenome discovery of missing autism variants

medRxiv(2025)10.1101/2025.07.21.25331932

Top 63%

0.216DataRank

Top 63%3 citations

Jiadong Lin, Michelle D. Noyes, Young-Jun Kwon, Isaac Wong, Nidhi Koundinya +23 more

Using the linear references from the pangenome to discover missing autism variants

Nature Communications(2026)10.1038/s41467-026-68378-4

Top 65%

0.208DataRank

Top 65%3 citations

Jiadong Lin, Michelle D. Noyes, Young-Jun Kwon, Isaac Wong, Nidhi Koundinya +252 more

Correction: Corrigendum: Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genetics in Medicine(2014)10.1038/gim.2014.61

N/A

0.136DataRank · unranked

1 citations

Vandana Shashi, Matthew N. Bainbridge, Michael J. Gambello, Farah Zahir, Thomas Bast +28 more

miR760 regulates ATXN1 levels via interaction with its 5′ untranslated region

Genes & Development(2020)10.1101/gad.339317.120

N/A

0DataRank · unranked

36 citations

Ambika Tewari, Stephanie L. Coffin, Eder Xhako, Kaifang Pang, Vincenzo A. Gennarino +5 more

Insufficient Evidence for “Autism-Specific” Genes

OSF Preprints (OSF Preprints)(2020)10.31219/osf.io/24gm3

N/A

0DataRank · unranked

3 citations

Thomas D. Challman, Raphael Bernier, Thomas Bourgeron, Wendy K. Chung, John N. Constantino +8 more

Deleting Mecp2 from the entire cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.12.380162

N/A

0DataRank · unranked

1 citations

Ling-jie He, Olivia A. Kim, Shogo Ohmae, Gregory J. Wojaczynski, Tao Lin +4 more

Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome

Science Translational Medicine(2021)10.1126/scitranslmed.aaz7785

N/A

0DataRank · unranked

60 citations

Yehezkel Sztainberg, Qi Wang, Sameer S. Bajikar, Alexander J. Trostle, Ying‐Wooi Wan +6 more

Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice

eLife(2021)10.7554/elife.64833

N/A

0DataRank · unranked

34 citations

Ling-jie He, Olivia A. Kim, Shogo Ohmae, Gregory J. Wojaczynski, Tao Lin +4 more

Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods

Human Mutation(2021)10.1002/humu.24302

N/A

0DataRank · unranked

16 citations

Lora Jh Bean, Izabela Karbassi, Katelynn Beattie, Thierry Bienvenu, Hope Bonin +13 more

Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1

JCI Insight(2021)10.1172/jci.insight.144955

N/A

0DataRank · unranked

18 citations

Stephanie L. Coffin, Eder Xhako, Dany El-Najjar, James P. Orengo, Elizabeth Alcala +6 more

Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions

Genes & Development(2021)10.1101/gad.345397.120

N/A

0DataRank · unranked

17 citations

Sameer S. Bajikar, Harini P Tirumala, Manuel Cantu Gutierrez, Joshua D. Wythe, Huda Y. Zoghbi +1 more

Disrupting ATXN1 Nuclear Localization in a Knock-in SCA1 Mouse Model Improves a Spectrum of SCA1-Like Phenotypes and their Brain Region Associated Transcriptomic Profiles

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.16.472987

N/A

0DataRank · unranked

3 citations

Lisa Duvick, Jason S. Mitchell, Marija Cvetanović, Molly Reighard, Alyssa Soles +11 more

Dysfunction of D2 dopamine receptor expressing neurons underlies manic-like behaviors in mice modeling SHANK3 duplication disorder

Research Square(2021)10.21203/rs.3.rs-646721/v1

N/A

0DataRank · unranked

1 citations

Kaifang Pang, Michel Weïwer, Kihoon Han, Wei Wang, Theresa Estiphan +13 more

Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2119078119

N/A

0DataRank · unranked

43 citations

Hamdan Hamdan, Hari Krishna Yalamanchili, Kaifang Pang, Amy E. Pohodich, Joanna Lopez +19 more

Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles

Neuron(2022)10.1016/j.neuron.2022.11.017

N/A

0DataRank · unranked

31 citations

Lisa Duvick, Jason S. Mitchell, Marija Cvetanović, Molly Reighard, Alyssa Soles +12 more

Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1

Neuron(2022)10.1016/j.neuron.2022.11.016

N/A

0DataRank · unranked

28 citations

Mark A. Durham, Larissa Nitschke, Eder Xhako, Amanda M Brown, Jean‐Pierre Revelli +11 more

Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders

Molecular Therapy(2022)10.1016/j.ymthe.2022.05.014

N/A

0DataRank · unranked

26 citations

Guangping Gao, Elizabeth Berry‐Kravis, Allison M. Bradbury, Carsten G. Bönnemann, Joseph D. Buxbaum +12 more

Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1

Journal of Clinical Investigation(2022)10.1172/jci156616

N/A

0DataRank · unranked

11 citations

Ismael Al‐Ramahi, Hyun-Hwan Jeong, Youjin Jang, Tao Lin, Carolyn J. Adamski +11 more

Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model

JCI Insight(2022)10.1172/jci.insight.154442

N/A

0DataRank · unranked

8 citations

Larissa Nitschke, Meike E. van der Heijden, Nicholas A. Ciaburri, Harry T. Orr, Huda Y. Zoghbi +1 more

Literature-based predictions of treatments for genetic disease pathology

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.09.08.506253

N/A

0DataRank · unranked

0 citations

Won‐Seok Lee, Ji‐Yoen Kim, Hyun-Hwan Jeong, Julia Wang, Huda Y. Zoghbi +2 more

MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.10.05.510925

N/A

0DataRank · unranked

0 citations

Ashley G. Anderson, Jian Zhou, Mark A. Durham, Alexander J. Trostle, Ying‐Wooi Wan +3 more

Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1

Neuron(2023)10.1016/j.neuron.2023.10.039

N/A

0DataRank · unranked

33 citations

Neal G. Ravindra, Chang‐Woo Lee, Yubao Cheng, Billy Nguyen, Kimberly P. Luttik +22 more

Atoh1 drives the heterogeneity of the pontine nuclei neurons and promotes their differentiation

Science Advances(2023)10.1126/sciadv.adg1671

N/A

0DataRank · unranked

10 citations

Jessica C. Butts, Matthew S. Caudill, Jean‐Pierre Revelli, Ryan S. Dhindsa, Mark A. Durham +2 more

Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1

Neuron(2023)10.1016/j.neuron.2023.02.030

N/A

0DataRank · unranked

9 citations

Mark A. Durham, Larissa Nitschke, Eder Xhako, Amanda M. Brown, Jean‐Pierre Revelli +11 more

A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels

Genes & Development(2023)10.1101/gad.350733.123

N/A

0DataRank · unranked

16 citations

Claudia Cattoglio, Yingyao Shao, Harini P Tirumala, Carlo Vetralla, Sameer S. Bajikar +19 more

Delineating regional vulnerability in the neurodegenerative disease SCA1 using a conditional mutant ATXN1 mouse

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.02.08.527710

N/A

0DataRank · unranked

2 citations

William M. Southern, Kellie Benzow, Zoe N. Burch, Hillary P. Handler, Jason S. Mitchell +17 more

Literature-based predictions of Mendelian disease therapies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.08.018

N/A

0DataRank · unranked

0 citations

Won‐Seok Lee, Jiyoen Kim, Hyun-Hwan Jeong, Ryan S. Dhindsa, Julia Wang +3 more

TheAtoh1-CreKnock-In Allele Ectopically Labels a Subpopulation of Amacrine Cells and Bipolar Cells in Mouse Retina

eNeuro(2023)10.1523/eneuro.0307-23.2023

N/A

0DataRank · unranked

0 citations

Huda Y. Zoghbi, Sih‐Rong Wu

TYK2 regulates tau levels, phosphorylation and aggregation in a tauopathy mouse model

Nature Neuroscience(2024)10.1038/s41593-024-01777-2

N/A

0DataRank · unranked

24 citations

Bakhos Tadros, Yan Hong Wei Liang, Young Doo Kim, Cristian A. Lasagna‐Reeves, Jun Young Sonn +5 more

Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis

Neuron(2024)10.1016/j.neuron.2024.11.006

N/A

0DataRank · unranked

26 citations

Jian Zhou, Ryan O’Hara, Harini P Tirumala, Mark A. Durham, Alexander J. Trostle +10 more

A single-cell transcriptomic map of the developing Atoh1 lineage identifies neural fate decisions and neuronal diversity in the hindbrain

Developmental Cell(2024)10.1016/j.devcel.2024.07.007

N/A

0DataRank · unranked

22 citations

Sih‐Rong Wu, Mark A. Durham, Ryan S. Dhindsa, Jean‐Pierre Revelli, M. Cecilia Ljungberg +5 more

Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease

JCI Insight(2024)10.1172/jci.insight.176057

N/A

0DataRank · unranked

13 citations

William M. Southern, Kellie Benzow, Zoe N. Burch, Hillary P. Handler, Jason S. Mitchell +18 more

Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson’s disease

Cell Reports(2025)10.1016/j.celrep.2025.115355

N/A

0DataRank · unranked

12 citations

Chloe F. Sands, Isabella R. Juan, Jonathan Mitchell, Vida Ravanmehr, Jessica C. Butts +22 more

Pathogenesis of polyglutamine diseases: Piecing together a complex molecular puzzle

The Journal of Experimental Medicine(2025)10.1084/jem.20241336

N/A

0DataRank · unranked

3 citations

Huda Y. Zoghbi, Esmeralda Villavicencio Gonzalez

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.09.04.674293

N/A

0DataRank · unranked

9 citations

Yang Sui, Druha Karunakaran, Ally Nicolella, Rachel Leonard, Rebecca Meyer‐Schuman +7 more

Whole Genome Sequencing of Pedigrees With High Density of Substance Use and Psychiatric Disorders: A Meeting Report

Genes Brain & Behavior(2025)10.1111/gbb.70017

N/A

0DataRank · unranked

0 citations

Howard J. Edenberg, Aiden Corvin, Thorgeir E. Thorgeirsson, Jennifer E. Below, David Goldman +8 more

Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach

eLife(2025)10.1101/2025.08.31.673354

N/A

0DataRank · unranked

0 citations

Elena Hein, Beatrice Alexander-Howden, Timur von Bock und Polach, Tricia Mathieson, Benjamin P. Kleinstiver +3 more

Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors

Neuron(2020)10.1016/j.neuron.2020.01.008

N/A

0DataRank · unranked

197 citations

Mateusz C. Ambrozkiewicz, Fritz Benseler, Cui Chen, Émilie Dumontier, Susanne Falkner +51 more

Insufficient Evidence for “Autism-Specific” Genes

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.004

N/A

0DataRank · unranked

169 citations

Thomas D. Challman, Raphael Bernier, Thomas Bourgeron, Wendy K. Chung, John N. Constantino +8 more

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder

Human Molecular Genetics(2020)10.1093/hmg/ddz305

N/A

0DataRank · unranked

40 citations

Rituraj Pal, Jiani Yin, Huifang Tao, Abdallah Amawi, Aniko Sabo +5 more

Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia

Frontiers in Neurology(2020)10.3389/fneur.2020.593554

N/A

0DataRank · unranked

20 citations

Teng-Wei Huang, José A. Herrera, Rodney C. Samaco, Christopher M. McGraw, Diana Parra +7 more

Excessive Formation and Stabilization of Dendritic Spine Clusters in the MECP2-Duplication Syndrome Mouse Model of Autism

eNeuro(2020)10.1523/eneuro.0282-20.2020

N/A

0DataRank · unranked

14 citations

Jiyoung Park, Bernhard Suter, Huda Y. Zoghbi, Stelios M. Smirnakis, Ryan T. Ash

Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders

Neuroscience(2020)10.1016/j.neuroscience.2020.04.037

N/A

0DataRank · unranked

20 citations

Annarita Patrizi, Jocelyn J. LeBlanc, Lee‐Way Jin, Izumi Maezawa, Sarah E. Sinnett +13 more

PolyA-miner: accurate assessment of differential alternative poly-adenylation from 3′Seq data using vector projections and non-negative matrix factorization

Nucleic Acids Research(2020)10.1093/nar/gkaa398

N/A

0DataRank · unranked

43 citations

Callison E Alcott, Ping Ji, Eric J. Wagner, Huda Y. Zoghbi, Zhandong Liu +1 more

MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons

Journal of Neuroscience(2020)10.1523/jneurosci.1281-19.2020

N/A

0DataRank · unranked

38 citations

Steven Andrew Baker, Roy V. Sillitoe, Yaling Sun, Jian Zhou, Yukiteru Ono +4 more

Huda Y. Zoghbi

Indexed papers

Top data-sharing exemplar

Papers