Fuki M. Hisama

University of California, Irvine Medical Center

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 21 papers. Top paper: “Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome”.

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51786

N/A

0.241DataRank · unranked

4 citations

Ghayda Mirzaa, Elizabeth Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth +28 more

Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men

Frontiers in Genetics(2020)10.3389/fgene.2020.557341

N/A

0DataRank · unranked

13 citations

He Fang, Asha Pathak, Angela M. Zou, Whitney Neufeld‐Kaiser, Emily A. Malouf +4 more

Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer

Journal of the American Medical Informatics Association(2020)10.1093/jamia/ocaa152

N/A

0DataRank · unranked

16 citations

Lue Ping Zhao, Calvin Le, Peter Wilcox, Troy Yi, Jesse C. Hinshaw +6 more

Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now PursueAntigeroid Syndromes!

The Journals of Gerontology Series A(2020)10.1093/gerona/glaa273

N/A

0DataRank · unranked

11 citations

Fuki M. Hisama, Junko Oshima, George M. Martin

Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations

Aging Pathobiology and Therapeutics(2020)10.31491/apt.2020.06.021

N/A

0DataRank · unranked

3 citations

Fuki M. Hisama, Stephanie A. Bucks, Soe Yarzar, Haroula Korovou, Phaze SA, Athens, Greece +3 more

Deletion of FUNDC2 and CMC4 on chromosome Xq28 is sufficient to cause hypergonadotropic hypogonadism in men

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.03.23.004424

N/A

0DataRank · unranked

0 citations

He Fang, Asha Pathak, Angela M. Zou, Whitney Neufeld‐Kaiser, Emily A. Malouf +4 more

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

UNC Libraries(2020)10.17615/x7nz-xc34

N/A

0DataRank · unranked

0 citations

Levi A. Garraway, Elizabeth T. DeChene, Heidi L. Rehm, Matthew C. Dulik, James P. Evans +12 more

SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome—the Myhre syndrome

GeroScience(2021)10.1007/s11357-020-00318-6

N/A

0DataRank · unranked

18 citations

Deyin Hou, Jiaming Zhang, Xiaomeng Yang, Goli Compoginis, Takayasu Mori +6 more

Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

Journal of Medical Genetics(2022)10.1136/jmedgenet-2022-108485

N/A

0DataRank · unranked

26 citations

Lin Lee, Miranda Galey, Renuka Kandhaya‐Pillai, Marc Tischkowitz, Deepak Amalnath +11 more

The Current State of Genetic Testing Platforms for Inherited Retinal Diseases

Ophthalmology Retina(2022)10.1016/j.oret.2022.03.011

N/A

0DataRank · unranked

21 citations

Fuki M. Hisama, Jennifer Huey, Jennifer R. Chao, Debarshi Mustafi

Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome

GeroScience(2023)10.1007/s11357-023-00907-1

N/A

0DataRank · unranked

3 citations

Renuka Kandhaya Pillai, Julia M. Sidorova, Karynne Patterson, Carolina Gokingco, Michal Yacobi-Bach +2 more

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.09.26.559521

N/A

0DataRank · unranked

7 citations

Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Yong-Han Hank Cheng +31 more

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Genetics in Medicine(2024)10.1016/j.gim.2024.101115

N/A

0DataRank · unranked

6 citations

Lauren C. Briere, Chloe Reuter, Perman Gochyyev, Maria T. Acosta, David R. Adams +94 more

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Rare(2024)10.1016/j.rare.2024.100040

N/A

0DataRank · unranked

3 citations

Samuel J. Huang, Alyna Khan, Katie Golden‐Grant, Brenna Boyd, Elisabeth A. Rosenthal +37 more

Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders

The Journal of Clinical Endocrinology & Metabolism(2024)10.1210/clinem/dgae620

N/A

0DataRank · unranked

1 citations

Maria Stamou, Sara L Stockman, Mark Campbell, Lacey Plummer, Kathryn Salnikov +7 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

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

Nature Genetics(2025)10.1038/s41588-024-02067-0

N/A

0DataRank · unranked

34 citations

Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Stephanie C. Bohaczuk +33 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

Human BDNF/TrkB variants impair hippocampal synaptogenesis and associate with neurobehavioural abnormalities

Scientific Reports(2020)10.1038/s41598-020-65531-x

N/A

0DataRank · unranked

69 citations

Lukas Kurt Josef Stadler, Mingyan Zhu, Julia M. Keogh, Elana Henning, Fuki M. Hisama +12 more

Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications

Genetics in Medicine(2025)10.1016/j.gim.2025.101501

N/A

0DataRank · unranked

1 citations

Adriana E Sedeño Cortés, Pankhuri Gupta, Abbye E. McEwen, Eric Y. Kao, Martha Horike‐Pyne +8 more