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Thomas B. Friedman

Affiliation : National Institutes of Health · National Institute on Deafness and Other Communication Disorders

• 6Publications (affiliation in the United States)
• 344Total publications
• 17919Citations
• 75h-index

ORCIDOpenAlex

Research profile

Thomas B. Friedman has 6 indexed publications (2008–2024). Their work appears mainly in “The American Journal of Human Genetics”, “medRxiv” and “Genetics in Medicine”. Their most cited article, “Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans” (2008), has been cited 83 times. 2 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Pakistan, United Kingdom.

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Research areas

• Hearing, Cochlea, Tinnitus, Genetics
• Congenital Ear and Nasal Anomalies
• Genetic and Kidney Cyst Diseases
• Vestibular and auditory disorders
• Hearing Loss and Rehabilitation

Publications (6)

• Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
  2024 · The American Journal of Human Genetics · cited 13 times
• Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
  2024 · medRxiv · cited 2 times
• Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
  2021 · Genetics in Medicine · cited 44 times
• Variants of human CLDN9 cause mild to profound hearing loss
  2021 · Human Mutation · cited 6 times
• CDC14A phosphatase is essential for hearing and male fertility in mouse and human
  2017 · Human Molecular Genetics · cited 61 times
• Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
  2008 · Nature Genetics · cited 83 times

Publication venues

• The American Journal of Human Genetics × 1
• medRxiv × 1
• Genetics in Medicine × 1
• Human Mutation × 1
• Human Molecular Genetics × 1
• Nature Genetics × 1

Publications per year

• 20242
• 20212
• 20171
• 20081

Collaborations

Partner institutions : University of Iowa · Broad Institute · Harvard University · Mass General Brigham · University of the Punjab

Co-authors’ countries : Pakistan · United Kingdom

Co-authors

• Inna A. Belyantseva
• Héla Azaiez
• Kevin T. A. Booth
• Cristina Fenollar‐Ferrer
• Melanie Barzik
• Robert J. Morell
• Andrew J. Griffith
• Ayesha Imtiaz
• Anne B. Skvorak Giersch
• Mayher J. Patel
• Elizabeth Black-Zeigelbein
• Elizabeth A. H. Wilson

Bibliographic data from OpenAlex (open database).