Hsiao‐Tuan Chao

Also affiliated with Neurological Research Institute, Texas Children's Hospital

Biochemistry, Genetics and Molecular Biology

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 6%percentile

0.269Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Genome Medicine(2025)10.1186/s13073-025-01563-0

Top 58%

0.269DataRank

Top 58%5 citations

Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy +66 more

Papers

Driven by 44 papers — median percentile 42. Top paper: “SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia”.

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

Journal of Clinical Investigation(2020)10.1172/jci141500

N/A

0.788DataRank · unranked

190 citations

Hongzheng Dai, Lindsay C. Burrage, Jill A. Rosenfeld, Shamika Ketkar, Michaela Müller +13 more

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

npj Genomic Medicine(2023)10.1038/s41525-022-00343-8

N/A

0.605DataRank · unranked

18 citations

Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara +95 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.007

N/A

0.510DataRank · unranked

29 citations

Sen Zhao, Jefferson C. Sinson, Aleksandar Bajić, Jill A. Rosenfeld, Matthew B. Neeley +23 more

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6

N/A

0.489DataRank · unranked

25 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 more

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Genome Research(2024)10.1101/gr.279346.124

N/A

0.396DataRank · unranked

13 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +17 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0.345DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

N/A

0.292DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Genome Medicine(2025)10.1186/s13073-025-01563-0

Top 58%

0.269DataRank

Top 58%5 citations

Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy +66 more

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62704

N/A

0.241DataRank · unranked

4 citations

David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis +10 more

An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

Annals of Neurology(2022)10.1002/ana.26359

N/A

0DataRank · unranked

16 citations

Vanesa Lerma, Christina L. Magyar, Jessica M. Pfliger, Aarushi Nayak, Nathan D. Bliss +10 more

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62940

N/A

0DataRank · unranked

5 citations

Isabel Haviland, Yoel Gofin, Lindsay C. Swanson, Christelle Moufawad El Achkar, John M. Schreiber +21 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

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

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

N/A

0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

N/A

0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 more

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

medRxiv(2023)10.1101/2023.03.27.23287689

N/A

0DataRank · unranked

3 citations

Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa Lerma +40 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741

N/A

0DataRank · unranked

1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension

JCI Insight(2024)10.1172/jci.insight.172152

N/A

0DataRank · unranked

4 citations

Edmond Wonkam‐Tingang, Monesha Gupta‐Malhotra, S. Shahrukh Hashmi, Yixing Han, Aarti Jajoo +19 more

Behavioral screening reveals a conserved residue in Y-Box RNA-binding protein required for associative learning and memory in C. elegans

PLoS Genetics(2024)10.1371/journal.pgen.1011443

N/A

0DataRank · unranked

3 citations

Katie L. Brandel-Ankrapp, Edward W. Pietryk, Paul R. Merlau, Priyadharshini Vijayakumar, Emily J Leptich +7 more

Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.05.574402

N/A

0DataRank · unranked

3 citations

Katie L. Brandel-Ankrapp, Paul R. Merlau, Priyadharshini Vijayakumar, Emily J Leptich, Edward W. Pietryk +6 more

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

medRxiv(2024)10.1101/2024.04.22.24305780

N/A

0DataRank · unranked

1 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +14 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

N/A

0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.001

N/A

0DataRank · unranked

45 citations

Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld +12 more

Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships

medRxiv(2020)10.1101/2020.12.07.20238691

N/A

0DataRank · unranked

1 citations

Aarushi Nayak, Nathan D. Bliss, Vanesa Lerma, Ashley W. LeMaire, Vinodh Narayanan +8 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2020.12.30.424813

N/A

0DataRank · unranked

3 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +39 more

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Cell Reports(2022)10.1016/j.celrep.2022.110517

N/A

0DataRank · unranked

52 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +56 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

Hsiao‐Tuan Chao

Indexed papers

Top data-sharing exemplar

Papers