Stanley F. Nelson

Department of Medicine, University of Washington, Seattle, WA 98195, USA.

ORCID: 0000-0002-2082-3114

Biochemistry, Genetics and Molecular BiologyMedicine

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 100%percentile

0Author 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 →

Papers

Driven by 49 papers. Top paper: “Meta‐analysis of genome‐wide linkage scans of attention deficit hyperactivity disorder”.

Meta‐analysis of genome‐wide linkage scans of attention deficit hyperactivity disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics(2008)10.1002/ajmg.b.30878

N/A

4.1DataRank · unranked

199 citations

Astrid Dempfle, Mauricio Arcos‐Burgos, Steven C. Bakker, Tobias Banaschewski, Joseph Biederman +47 more

Functional impact of global rare copy number variation in autism spectrum disorders

Nature(2010)10.1038/nature09146

N/A

1.1DataRank · unranked

2044 citations

Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan +204 more

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

Science(2008)10.1126/science.1155174

N/A

1.1DataRank · unranked

1822 citations

Anjene M Addington, Wellcome Trust Case Control Consortium, Anjené M. Addington, Sarah B. Pierce, Alex S. Nord +39 more

MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy

Frontiers in Immunology(2020)10.3389/fimmu.2020.601584

N/A

0.375DataRank · unranked

6 citations

Shirley Y. Jiang, Stanley F. Nelson, Hane Lee, Kavitha Prabaker, Jennifer L. Baker +3 more

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Neuropathology(2020)10.1111/neup.12641

N/A

0.360DataRank · unranked

10 citations

Négar Khanlou, Hane Lee, Rebecca Signer, Perry B. Shieh, Johnathan Chen +6 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

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.019

N/A

0DataRank · unranked

25 citations

Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke M. van Haelst +43 more

Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 – June 27, 2019

Journal of Neuromuscular Diseases(2020)10.3233/jnd-200555

N/A

0DataRank · unranked

8 citations

Kathi Kinnett, Linda Cripe, Dongsheng Duan, Jamie L. Jackson, Joe N. Kornegay +7 more

INTS13 Mutations Causing a Developmental Ciliopathy Disrupt Integrator Complex Assembly

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.20.209130

N/A

0DataRank · unranked

5 citations

Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang +20 more

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

medRxiv(2020)10.1101/2020.09.10.20190314

N/A

0DataRank · unranked

1 citations

Georgi Stoyanov, Florian Erger, Jill A. Rosenfeld, Erin Torti, Chad Haldeman‐Englert +18 more

Recurrent respiratory viral diseases and chronic sequelae due to dominant negative IFIH1

medRxiv(2020)10.1101/2020.07.01.20105379

N/A

0DataRank · unranked

0 citations

Timothy J. Thauland, Rebecca Signer, Stanley F. Nelson, Undiagnosed Diseases Network, Hane Lee +2 more

Genotype–phenotype correlations and novel molecular insights into the DHX30 -associated neurodevelopmental disorders

medRxiv(2020)10.1101/2020.09.24.20196097

N/A

0DataRank · unranked

0 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

EIF3F -related neurodevelopmental disorder: delineating and expanding the phenotypic and molecular spectrum

(2020)10.22541/au.160253804.44054844/v1

N/A

0DataRank · unranked

0 citations

Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary‐Alice Abbott, Syed A. Ahmed +34 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124

N/A

0DataRank · unranked

72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00900-3

N/A

0DataRank · unranked

31 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 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

Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin

Scientific Reports(2021)10.1038/s41598-020-80495-8

N/A

0DataRank · unranked

23 citations

Mika T. Westerhausen, Florian Barthélémy, Thomas E. Lockwood, Nerida Cole, Elizabeth M. Gibbs +6 more

Expansion of NEUROD2 phenotypes to include developmental delay without seizures

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62064

N/A

0DataRank · unranked

11 citations

Annalisa G. Sega, Rebecca Signer, Tracy Cartwright, Weizhen Ji, Julián A. Martínez-Agosto +12 more

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome

Journal of Molecular Medicine(2021)10.1007/s00109-021-02112-z

N/A

0DataRank · unranked

8 citations

Lee-kai Wang, Ascia Eskin, Xuedong Kang, Viviana M. Fajardo, Zubin Mehta +20 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5

N/A

0DataRank · unranked

1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Integrated Genomics Analysis Identifies Recessive Ciliopathy Mutations in Primary Endocardial Fibroelastosis: a Rare Neonatal Cardiomyopathy

Research Square(2021)10.21203/rs.3.rs-327918/v1

N/A

0DataRank · unranked

0 citations

Lee-kai Wang, Ascia Eskin, Xuedong Kang, Viviana M. Fajardo, Zubin Mehta +20 more

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

Communications Biology(2022)10.1038/s42003-022-03938-0

N/A

0DataRank · unranked

45 citations

Kevin N. Chesmore, Florian Barthélémy, Richard T. Wang, Shirley Nieves‐Rodriguez, Derek W. Wang +8 more

Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI

Neurology(2022)10.1212/wnl.0000000000201163

N/A

0DataRank · unranked

10 citations

David W. Hammers, William Triplett, Sarah Kim, Sean C. Forbes, Rebecca J. Willcocks +11 more

Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond–Blackfan anemia

Experimental Hematology(2022)10.1016/j.exphem.2022.04.005

N/A

0DataRank · unranked

8 citations

Vanessa Scanlon, Aya Shibuya, Alma‐Martina Cepika, Ascia Eskin, Zugen Chen +6 more

Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy

Frontiers in Cardiovascular Medicine(2022)10.3389/fcvm.2021.798985

N/A

0DataRank · unranked

5 citations

Hapet Shaybekyan, Yan Zhao, Xuedong Kang, Gregory A. Fishbein, Negar Khanlou +9 more

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.05.31.494197

N/A

0DataRank · unranked

4 citations

Kevin N. Chesmore, Florian Barthélémy, Richard T. Wang, Shirley Nieves‐Rodriguez, Derek W. Wang +8 more

De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.06.518921

N/A

0DataRank · unranked

0 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +9 more

Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

Frontiers in Genetics(2023)10.3389/fgene.2023.1216066

N/A

0DataRank · unranked

13 citations

Florian Barthélémy, Jeremy D. Woods, Emilie D. Douine, Richard T. Wang, Deirdre D. Scripture-Adams +5 more

Characterization of spastic paraplegia in a family with a novelPSEN1mutation

Brain Communications(2023)10.1093/braincomms/fcad030

N/A

0DataRank · unranked

11 citations

Naghmeh Dorrani, Sara Gutiérrez Fernández, Rebecca Signer, Julián A. Martínez-Agosto, Hane Lee +20 more

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Genetics in Medicine(2023)10.1016/j.gim.2023.101023

N/A

0DataRank · unranked

11 citations

Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier +95 more

Elucidation of bioinformatic-guided high-prospect drug repositioning candidates for DMD via Swanson linking of target-focused latent knowledge from text-mined categorical metadata

Frontiers in Cell and Developmental Biology(2023)10.3389/fcell.2023.1226707

N/A

0DataRank · unranked

1 citations

Florian Barthélémy, Stanley F. Nelson, J. Wes Ulm

SATB1 Chromatin Loops Regulate Megakaryocyte/Erythroid Progenitor Expansion by Facilitating HSP70 and GATA1 Induction

Stem Cells(2023)10.1093/stmcls/sxad025

N/A

0DataRank · unranked

1 citations

Hee‐Don Chae, Vanessa Scanlon, Alma‐Martina Cepika, Ethan Patrick Wentworth, Mallika Saxena +7 more

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

medRxiv(2023)10.1101/2023.12.21.23300383

N/A

0DataRank · unranked

4 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +22 more

Data from Gene Expression Profile Correlates with T-Cell Infiltration and Relative Survival in Glioblastoma Patients Vaccinated with Dendritic Cell Immunotherapy

(2023)10.1158/1078-0432.c.6519176.v1

N/A

0DataRank · unranked

0 citations

Horacio Soto, Vera Konkankit, Sylvia K. Odesa, Ascia Eskin, William H. Yong +3 more

Data from Gene Expression Profile Correlates with T-Cell Infiltration and Relative Survival in Glioblastoma Patients Vaccinated with Dendritic Cell Immunotherapy

(2023)10.1158/1078-0432.c.6519176

N/A

0DataRank · unranked

0 citations

Horacio Soto, Vera Konkankit, Sylvia K. Odesa, Ascia Eskin, William H. Yong +3 more

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.003

N/A

0DataRank · unranked

10 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +29 more

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects

International Journal of Molecular Sciences(2024)10.3390/ijms25105469

N/A

0DataRank · unranked

6 citations

John Hwang, Zubin Mehta, Carlos Sisniega, Alexander Barsegian, Xuedong Kang +9 more

The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2317601121

N/A

0DataRank · unranked

4 citations

Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Elizabeth Bhoj +29 more

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.008

N/A

0DataRank · unranked

3 citations

Eunjin Ryu, Benjamin Steger, Abhijit Dixit, Yoshihiko Saito, Juyeong Yoo +36 more

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.06.578086

N/A

0DataRank · unranked

2 citations

Kristy Jay, Alden Y. Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +23 more

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63798

N/A

0DataRank · unranked

0 citations

Kelly Schoch, Alden Huang, Hane Lee, Lee-kai Wang, Edward C. Smith +7 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

N/A

0DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape

medRxiv(2025)10.1101/2025.08.05.25330579

N/A

0DataRank · unranked

0 citations

Christina Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund, Santiago M. Lumbreras, Mark Burton +70 more

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

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.13.580158

N/A

0DataRank · unranked

3 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +14 more

Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab

New England Journal of Medicine(2020)10.1056/nejmoa2000024

N/A

0DataRank · unranked

75 citations

Timothy J. Thauland, Alden Huang, Chantana Bun, Sean Fitzwater, Paul Krogstad +6 more

Ppp1r1b-lncRNA inhibits PRC2 at myogenic regulatory genes to promote cardiac and skeletal muscle development in mouse and human

RNA(2020)10.1261/rna.073692.119

N/A

0DataRank · unranked

52 citations

Yan Zhao, Glen Van Arsdell, Stanley F. Nelson, Marlin Touma, Xuedong Kang

Enhanced Methods for Needle Biopsy and Cryopreservation of Skeletal Muscle in Older Adults

PubMed(2020)10.37421/jch.2020.11.553

N/A

0DataRank · unranked

13 citations

Austin N. Hoang, D Alarcon Segovia, Allen Herbst, Florian Barthélémy, Elizabeth M. Gibbs +5 more

Novel NUDT2 variant causes intellectual disability and polyneuropathy

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51209

N/A

0DataRank · unranked

10 citations

Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow +14 more

The frontiers of sequencing in undiagnosed neurodevelopmental diseases

Current Opinion in Genetics & Development(2020)10.1016/j.gde.2020.05.003

N/A

0DataRank · unranked

11 citations

Stanley F. Nelson, Hane Lee