Hane Lee

Also affiliated with RBio (South Korea), SNP Genetics (South Korea)

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 21 papers. Top paper: “Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features”.

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Science Advances(2021)10.1126/sciadv.abf2066

N/A

0.529DataRank · unranked

33 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 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

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

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

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

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

medRxiv(2020)10.1101/2020.10.26.20217109

N/A

0DataRank · unranked

0 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 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

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

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

A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature

Ophthalmic Genetics(2021)10.1080/13816810.2021.2010773

N/A

0DataRank · unranked

6 citations

Winston Lee, Pei‐Kang Liu, Sarah R. Levi, Hung-Hsi Wang, Nelson Chen +8 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

Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

medRxiv(2022)10.1101/2022.08.23.22278845

N/A

0DataRank · unranked

0 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Levesque +80 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

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Nature Communications(2024)10.1038/s41467-024-51310-z

N/A

0DataRank · unranked

5 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Lévesque +80 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

In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing

Genes & Diseases(2025)10.1016/j.gendis.2025.101533

N/A

0DataRank · unranked

1 citations

Bong Jik Kim, Chung Lee, Go Hun Seo, Hane Lee, Jin Hee Han +5 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

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

medRxiv(2025)10.64898/2025.12.11.25341975

N/A

0DataRank · unranked

0 citations

Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Virginie Vignard +43 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