Barbara Vona

Also affiliated with Brigham and Women's Hospital, Harvard University, University of Würzburg, German Primate Center, Harvard University Press, Universitätsmedizin Göttingen, European Neuroscience Institute Göttingen, University of Göttingen, University of Tübingen

NeuroscienceBiochemistry, 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 26 papers. Top paper: “Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss”.

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.04.010

N/A

1.6DataRank · unranked

76 citations

Maxim B. Freidin, Linda Broer, Berthe C. Oosterloo, Shuyang Yao, Yitian Zhou +65 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0.312DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

Radixin modulates stereocilia function and contributes to cochlear amplification

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.02.11.944355

N/A

0DataRank · unranked

0 citations

Barbara Vona, Marta Diñeiro, María Costales, Rocío González‐Aguado, Ana Fontalba +8 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.11.003

N/A

0DataRank · unranked

34 citations

Stéphanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca +35 more

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Human Genetics(2021)10.1007/s00439-020-02254-z

N/A

0DataRank · unranked

28 citations

Neda Mazaheri, Sheng‐Jia Lin, Lucy A Dunbar, Reza Maroofian, Héla Azaiez +21 more

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Human Mutation(2022)10.1002/humu.24435

N/A

0DataRank · unranked

29 citations

Barbara Vona, Hillary M. Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie +20 more

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Human Genetics(2022)10.1007/s00439-022-02444-x

N/A

0DataRank · unranked

26 citations

Cindy Penney, Darren D. O’Rielly, Anne Griffin, Lara Kamal, Zippora Brownstein +23 more

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

N/A

0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 more

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Genetics in Medicine(2023)10.1016/j.gim.2023.101034

N/A

0DataRank · unranked

8 citations

Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona +28 more

PKHD1L1 , A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss

medRxiv(2023)10.1101/2023.10.08.23296081

N/A

0DataRank · unranked

3 citations

Pedro De‐la‐Torre, Mina Zamani, Hanjun Wang, Hina Khan, T. Morris +12 more

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

N/A

0DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Brain(2024)10.1093/brain/awae010

N/A

0DataRank · unranked

14 citations

Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L. Komdeur, Robin A Liang +24 more

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101278

N/A

0DataRank · unranked

8 citations

Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani +55 more

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

European Journal of Human Genetics(2024)10.1038/s41431-024-01759-9

N/A

0DataRank · unranked

3 citations

Luisa Marsili, Domizia Pasquetti, Abolfazl Rad, Muhammad Nadeem Anjum, Gabriela Oprea +9 more

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2

European Journal of Human Genetics(2024)10.1038/s41431-024-01562-6

N/A

0DataRank · unranked

6 citations

Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Özgül M. Alper +9 more

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family

Genes(2024)10.3390/genes15091203

N/A

0DataRank · unranked

1 citations

Haseeb Anwar, Humaira Muzaffar, Valentina Turchetti, Tracy Lau, Barbara Vona +7 more

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.09.574708

N/A

0DataRank · unranked

3 citations

Leqian Yu, Barbara Vona, Dayea Park, Yulei Wei, Daniel A. Schmitz +30 more

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

medRxiv(2024)10.1101/2024.07.18.24310581

N/A

0DataRank · unranked

1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 more

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

UNC Libraries(2024)10.17615/fg4z-2k83

N/A

0DataRank · unranked

0 citations

L. C. M., André Goedegebure, Antti Mäkitie, Sullivan P.F, Shaohua Yao +62 more

Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants

QJM(2025)10.1093/qjmed/hcaf246

N/A

0DataRank · unranked

2 citations

Abolfazl Rad, Constantin Cretu, Sheng‐Jia Lin, Hafiz Saad Bin Mustafa, Kevin Huang +8 more

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

Genetics in Medicine(2025)10.1016/j.gim.2025.101392

N/A

0DataRank · unranked

1 citations

Marina T. DiStefano, Andrea M. Oza, Pamela Ajuyah, Ryan Webb, Enyonam Edoh +76 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

Radixin modulates the function of outer hair cell stereocilia

Communications Biology(2020)10.1038/s42003-020-01506-y

N/A

0DataRank · unranked

15 citations

Barbara Vona, Marta Diñeiro, María Costales, Rocío González‐Aguado, Ana Fontalba +8 more

Domain specific phenotypic expansion associated with variants in MACF1

medRxiv(2025)10.1101/2025.06.26.25330137

N/A

0DataRank · unranked

1 citations

Angad Jolly, Jill A. Rosenfeld, Paulina Bahena-Carbajal, Jonathan A. Bernstein, Devon Bonner +27 more

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.29.222828

N/A

0DataRank · unranked

3 citations

Neda Mazaheri, Sheng‐Jia Lin, Lucy A Dunbar, Reza Maroofian, Héla Azaiez +19 more