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Genetics

D-Index
85
Citations
21645
World Ranking
1323
National Ranking
626

Overview

Thomas B. Friedman is affiliated with the National Institutes of Health in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, with 63 publications, and Neuroscience, with 44 publications. Within these broader fields, they focus on subfields such as Molecular Biology, Sensory Systems, Cell Biology, Neurology, and Biomedical Engineering.

The scientist's main topics of work include hearing and cochlea-related studies, genetics, and disorders such as tinnitus, with 54 publications addressing these areas. Additional topics they explore are vestibular and auditory disorders, cellular transport and secretion, mitochondrial function and pathology, RNA and protein synthesis mechanisms, RNA regulation and disease, and muscle physiology and disorders.

Notable recent papers authored or co-authored by Thomas B. Friedman include:

  • "Exosomes mediate sensory hair cell protection in the inner ear," published in 2020 in the Journal of Clinical Investigation
  • "Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations," published in 2021 in The American Journal of Human Genetics
  • "New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder," published in 2021 in Human Genetics
  • "Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss," published in 2021 in Genetics in Medicine
  • "Myosins and Hearing," published in 2020 in Advances in Experimental Medicine and Biology

Thomas B. Friedman collaborates extensively with other researchers, with frequent co-authors including Inna A. Belyantseva (25 joint publications), Rabia Faridi (13 joint publications), Rizwan Yousaf (11 joint publications), Melanie Barzik (9 joint publications), and Sheikh Riazuddin (9 joint publications).

Their work has been published repeatedly in several venues, such as bioRxiv (Cold Spring Harbor Laboratory) with 8 publications, Clinical Genetics with 4 publications, The American Journal of Human Genetics and Human Genetics each with 2 publications, and Molecular Therapy - Methods & Clinical Development with 2 publications.

Best Publications

  • Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

    Morell Rj;Kim Hj;Hood Lj;Goforth L

  • Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

    Julie M. Bork;Linda M. Peters;Saima Riazuddin;Saima Riazuddin;Steve L. Bernstein

  • Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

    Edward R Wilcox;Quianna L Burton;Sadaf Naz;Saima Riazuddin;Saima Riazuddin

  • Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene

    Frank J. Probst;Robert A. Fridell;Yehoash Raphael;Thomas L. Saunders

  • Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

    Aihui Wang;Yong Liang;Robert A. Fridell;Frank J. Probst

  • Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function

    Kiyoto Kurima;Linda M. Peters;Yandan Yang;Saima Riazuddin

  • Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

    Zubair M. Ahmed;Saima Riazuddin;Steve L. Bernstein;Zahoor Ahmed

  • A mutation in PDS causes non-syndromic recessive deafness.

    Xiaoyan C. Li;Lorraine A. Everett;Anil K. Lalwani;Dilip Desmukh

  • Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

    Oz Vahava;Robert Morell;Eric D. Lynch;Sigal Weiss

  • Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

    Tamar Ben-Yosef;Inna A. Belyantseva;Thomas L. Saunders;Elizabeth D. Hughes

  • Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.

    Inna A. Belyantseva;Erich T. Boger;Erich T. Boger;Sadaf Naz;Gregory I. Frolenkov

  • Tricellulin Is a Tight-Junction Protein Necessary for Hearing

    Saima Riazuddin;Saima Riazuddin;Zubair M. Ahmed;Alan S. Fanning;Ayala Lagziel

  • PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

    Zubair M. Ahmed;Saima Riazuddin;Jamil Ahmad;Steve L. Bernstein

  • Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle.

    Inna A. Belyantseva;Erich T. Boger;Thomas B. Friedman

  • The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15

    Zubair M. Ahmed;Richard Goodyear;Saima Riazuddin;Ayala Lagziel

  • Human Nonsyndromic Sensorineural Deafness

    Thomas B. Friedman;Andrew J. Griffith

  • Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

    Saima Riazuddin;Inna A Belyantseva;Arnaud P J Giese;Kwanghyuk Lee

  • Genetic insights into the morphogenesis of inner ear hair cells

    Gregory I Frolenkov;Inna A Belyantseva;Thomas B Friedman;Andrew J Griffith

  • Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

    Sarah Vreugde;Alexandra Erven;Corné J. Kros;Walter Marcotti

  • A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

    T. B. Friedman;Yong Liang;J. L. Weber;J T Hinnant

Frequent Co-Authors

Zubair M. Ahmed
Zubair M. Ahmed University of Maryland, Baltimore
Saima Riazuddin
Saima Riazuddin University of Maryland, Baltimore
Sheikh Riazuddin
Sheikh Riazuddin University of Health Sciences Lahore
Robert J. Morell
Robert J. Morell National Institutes of Health
Andrew J. Griffith
Andrew J. Griffith National Institutes of Health
Inna A. Belyantseva
Inna A. Belyantseva National Institutes of Health
Shaheen N. Khan
Shaheen N. Khan University of the Punjab
James R. Sellers
James R. Sellers National Institutes of Health
Sally A. Camper
Sally A. Camper University of Michigan–Ann Arbor
William G. Newman
William G. Newman University of Manchester

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