T. Friedman

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2013, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13‐p12

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2005, American journal of medical genetics. Part A.

Mutational spectrum of MYO15A: the large N‐terminal extension of myosin XVA is required for hearing

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2007, Human mutation.

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

H. Ostrer, B. Keats, S. Riazuddin, 2002, Nature Genetics.

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

J. Lupski, S. Riazuddin, Z. Ahmed, 2001, Human Genetics.

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

C. Morton, J. Touchman, T. Friedman, 1998, Science.

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome

S. Leal, S. Riazuddin, T. Friedman, 2018, Human mutation.

Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.

A. Griffith, T. Friedman, Sarath Vijayakumar, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice.

S. Roy, T. Friedman, W. Chien, 2016, Molecular therapy : the journal of the American Society of Gene Therapy.

Distinctive audiometric profile associated with DFNB21 alleles of TECTA

S. Riazuddin, S. Riazuddin, T. Friedman, 2003, Journal of medical genetics.

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28.

David W. Anderson, A. Griffith, T. Friedman, 2002, Human molecular genetics.

Audiologic Aspects of the Search for DFNA20: A Gene Causing Late-Onset, Progressive, Sensorineural Hearing Loss

T. Friedman, R. Morell, R. Fisher, 2001, Ear and hearing.

Growth factor and receptor malfunctions associated with human genetic deafness

T. Friedman, S. Naz, 2019, Clinical genetics.

Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness

Michael C. Kelly, T. Friedman, M. Kelley, 2018, Cell.

Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores

H. Shroff, T. Friedman, B. Kim, 2021, Human Genetics.

Myosins and Hearing.

T. Friedman, G. Frolenkov, I. Belyantseva, 2020, Advances in experimental medicine and biology.

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

S. Leal, S. Riazuddin, Z. Ahmed, 2016, Human mutation.

Mutations of MYO6 are associated with recessive deafness, DFNB37.

L. Fananapazir, S. Riazuddin, Z. Ahmed, 2003, American journal of human genetics.

Unconventional myosins and the genetics of hearing loss.

J. Sellers, T. Friedman, K. Avraham, 1999, American journal of medical genetics.

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

Y. Raphael, J. Touchman, T. Friedman, 1998, Science.

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

P. Sieving, S. Riazuddin, Z. Ahmed, 2003, Human molecular genetics.

Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

S. Riazuddin, Z. Ahmed, A. Griffith, 2021, eLife.

Potential therapy for progressive vision loss due to PCDH15-associated Usher Syndrome developed in an orthologous Usher mouse

S. Riazuddin, Z. Ahmed, A. Griffith, 2021, bioRxiv.

Atypical and ultra-rare Usher syndrome: a review

A. Griffith, T. Friedman, W. Zein, 2020, Ophthalmic genetics.

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2018, Journal of Medical Genetics.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Heidi L Rehm, Wadih M Zein, Zawar Hussain, 2011, Journal of Medical Genetics.

Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D

U. Wolfrum, N. Overlack, T. Friedman, 2009, Molecular vision.

Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration

P. Sieving, S. Riazuddin, Z. Ahmed, 2008, Molecular vision.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

B. van der Zwaag, H. Kremer, S. Riazuddin, 2008, Nature Genetics.

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function

J. Sellers, S. Riazuddin, Z. Ahmed, 2008, Human mutation.

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2007, Human Genetics.

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2007, Human Mutation.

Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts.

P. Sieving, Z. Ahmed, T. Friedman, 2006, Investigative ophthalmology & visual science.

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

R. Goodyear, G. Richardson, S. Riazuddin, 2006, The Journal of Neuroscience.

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2006, Journal of Medical Genetics.

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

W. Pavan, E. Green, S. Riazuddin, 2006, American journal of human genetics.

Usher syndrome type 1: genotype-phenotype relationships.

Z. Ahmed, T. Friedman, Julie M. Schultz, 2005, Retina.

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development.

Z. Ahmed, T. Friedman, Ayala Lagziel, 2005, Developmental biology.

The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed with Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa

M. Hildesheimer, T. Friedman, K. Avraham, 2004, Pediatric Research.

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

Karen B Avraham, Harry Ostrer, Carole Oddoux, 2003, The New England journal of medicine.

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

J. W. Askew, W. Reardon, H. Kremer, 2002, American journal of human genetics.

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2002, Human Genetics.

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

M. Bitner-Glindzicz, S. Riazuddin, Z. Ahmed, 2001, American journal of human genetics.

The Transcription Factors Grainyhead-like 2 and NK2-Homeobox 1 Form a Regulatory Loop That Coordinates Lung Epithelial Cell Morphogenesis and Differentiation*

J. Tagne, D. Warburton, T. Friedman, 2012, The Journal of Biological Chemistry.

Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2018, The Journal of clinical investigation.

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

D. Nickerson, S. Leal, Joshua D. Smith, 2016, American journal of human genetics.

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Gao T. Wang, J. Shendure, D. Nickerson, 2014, European Journal of Human Genetics.

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

S. Riazuddin, Shaheen N. Khan, S. Riazuddin, 2012, Journal of Human Genetics.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

T. Friedman, J. Innis, J. H. Asher, 1998, Journal of medical genetics.

Actin in hair cells and hearing loss

T. Friedman, I. Belyantseva, K. Friderici, 2012, Hearing Research.

The genetic bases for syndromic and nonsyndromic deafness among Jews.

T. Friedman, T. Ben‐Yosef, 2003, Trends in molecular medicine.

Stereocilia: the long and the short of it.

A. Griffith, T. Friedman, V. Labay, 2003, Trends in molecular medicine.

PCDH 15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH 1 F and DFNB 23

P. Sieving, S. Riazuddin, Z. Ahmed, 2003 .

The urate oxidase gene of Drosophila pseudoobscura and Drosophila melanogaster: Evolutionary changes of sequence and regulation

T. Friedman, J. Burnett, S. Lootens, 2004, Journal of Molecular Evolution.

Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.

W. Miller, D. W. Anderson, J. Touchman, 1999, Genomics.

Exosomes mediate sensory hair cell protection in the inner ear.

D. E. Anderson, R. Petralia, T. Friedman, 2020, The Journal of clinical investigation.

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

J. Lupski, T. Barber, T. Friedman, 1998, American journal of human genetics.

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

J. Weber, T. Barber, T. Friedman, 1995, Nature Genetics.

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Mohsin Shahzad, S. Riazuddin, Z. Ahmed, 2010, American journal of human genetics.

Actin at stereocilia tips is regulated by mechanotransduction and ADF/cofilin

T. Friedman, Jinan Li, N. Berbari, 2020, Current Biology.

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.

T. Friedman, R. Morell, S. Moeljopawiro, 1992, Human molecular genetics.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Andrew R. Grant, Marina T. DiStefano, I. Krantz, 2021, Genetics in Medicine.

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy

Y. Chudasama, C. Pierpaoli, R. Petralia, 2019, Human molecular genetics.

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

A. Ishiyama, I. Lopez, S. Riazuddin, 2020, Genes.

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

J. Shendure, D. Nickerson, S. Leal, 2014, American journal of human genetics.

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

M. King, Ming K. Lee, C. Morton, 1998, Science.

On the loss of uricolytic activity during primate evolution--I. Silencing of urate oxidase in a hominoid ancestor.

T. Friedman, J. Mayle, G. Polanco, 1985, Comparative biochemistry and physiology. B, Comparative biochemistry.

Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39

T. Friedman, T. Ohyama, M. Hoa, 2020, The Journal of Neuroscience.

Noncoding microdeletion in mouse Hgf disrupts neural crest migration into the stria vascularis, reduces the endocochlear potential and suggests the neuropathology for human nonsyndromic deafness DFNB39

T. Friedman, T. Ohyama, M. Hoa, 2019 .

A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss

T. Friedman, G. Mujtaba, S. Naz, 2015, Journal of Medical Genetics.

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

S. Leal, T. Friedman, R. Yousaf, 2021, European journal of human genetics : EJHG.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Julian R. E. Davis, T. Walsh, M. King, 2013, American journal of human genetics.

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

Yehoash Raphael, Andrew Forge, Sally A Camper, 2003, Human molecular genetics.

Ultrastructural effects of a suppressor mutation in Drosophila.

R. Rizki, T. Friedman, S. Healy, 1970, Genetics.

Enzymatic synthesis and interconversion of UDP-D-glucose and UDP-D-galactose in the albumen gland of the snail, Helix pomatia.

T. Friedman, E. Goudsmit, 1976, Comparative biochemistry and physiology. B, Comparative biochemistry.

Regulatory Mutations in Human Hereditary Deafness

T. Friedman, J. Bird, 2012 .

Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

James F Battey, T. Friedman, J. Battey, 2007, Genomics.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

S. Leal, C. Cremers, G. Vriend, 2008, American journal of human genetics.

Myosin-driven Nucleation of Actin Filaments Drives Stereocilia Development Critical for Hearing

Steve D. M. Brown, Jesse C. Werth, J. Sellers, 2021, bioRxiv.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

S. Jacobson, A. D. den Hollander, A. Swaroop, 2012, The Journal of clinical investigation.

Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus.

Z. Shah, H. Jacobs, T. Friedman, 1998, Genomics.

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

K. Arnos, A. Pandya, S. Blanton, 2003 .

Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics

H. Rehm, K. Arnos, B. Korf, 2003, Genetics in Medicine.

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

K. Arnos, A. Pandya, S. Blanton, 2003, Genetics in Medicine.

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2000, Nature Genetics.

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

C. Petit, S. Chardenoux, T. Friedman, 2000, American journal of human genetics.

The faint band/interband region 28C2 to 28C4-5(−) of the Drosophila melanogaster salivary gland polytene chromosomes is rich in transcripts

L. Wallrath, T. Friedman, A. Saura, 1991, Molecular and General Genetics MGG.

Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome

A. Griffith, T. Friedman, W. Zein, 2020, Clinical genetics.

Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

S. Riazuddin, S. Riazuddin, A. Griffith, 2001, Cell.

Molecular characterization of the Drosophila melanogaster urate oxidase gene, an ecdysone-repressible gene expressed only in the malpighian tubules

L. Wallrath, T. Friedman, J. Burnett, 1990, Molecular and cellular biology.

Isolation of bacteriophages from commercial sera

T. Friedman, C. Merril, M. Geier, 1972, In Vitro.

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.

Y. Raphael, M. Brilliant, S. Riazuddin, 2010, American journal of human genetics.

Twinfilin 2 Regulates Actin Filament Lengths in Cochlear Stereocilia

P. Hsu, S. Heller, T. Friedman, 2009, The Journal of Neuroscience.

γ-Actin is required for cytoskeletal maintenance but not development

J. Ervasti, J. McGee, E. Walsh, 2009, Proceedings of the National Academy of Sciences.

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

S. Riazuddin, Shaheen N. Khan, S. Riazuddin, 2004, Journal of Medical Genetics.

An intraspecific gene duplication polymorphism of the urate oxidase gene of Drosophila virilis: a genetic and molecular analysis.

T. Friedman, J. Burnett, S. Lootens, 1993, Molecular biology and evolution.

Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia.

T. Friedman, T. Glover, J. Innis, 1997, American journal of medical genetics.

Fast-dissociating but highly specific antibodies are novel tools in biology, especially useful for multiplex super-resolution microscopy

T. Friedman, N. Watanabe, Takushi Miyoshi, 2021, STAR protocols.

Live-cell imaging of actin dynamics reveals mechanisms of stereocilia length regulation in the inner ear

D. Corey, T. Friedman, C. Lechene, 2015, Nature Communications.

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2011, Journal of Human Genetics.

Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing

Ikuko Fujiwara, James Sellers, John A. Hammer, 2010, Cell.

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2007, Human Genetics.

Semi-automated single-molecule microscopy screening of fast-dissociating specific antibodies directly from hybridoma cultures

Jiji Chen, H. Shroff, T. Friedman, 2021, Cell reports.

The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness

J. Sellers, Y. Takagi, T. Friedman, 2020, The Journal of biological chemistry.

The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness

J. Sellers, Y. Takagi, T. Friedman, 2020, bioRxiv.

Author Correction: Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome.

L. Rüttiger, A. Forge, O. Thoumine, 2018, Nature communications.

Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome

L. Rüttiger, A. Forge, O. Thoumine, 2017, Nature Communications.

The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing

M. Mustapha, T. Friedman, G. Frolenkov, 2015, eLife.

Chaperone-enhanced purification of unconventional myosin 15, a molecular motor specialized for stereocilia protein trafficking

J. Sellers, Y. Takagi, M. Strub, 2014, Proceedings of the National Academy of Sciences.

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

J. Sellers, Z. Ahmed, A. Griffith, 2005, Nature Cell Biology.

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

T. Friedman, I. Belyantseva, E. Boger, 2003, Proceedings of the National Academy of Sciences of the United States of America.

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

H. Fuchs, K. Steel, R. Balling, 2002, Nature Genetics.

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

U. Scholl, S. Riazuddin, Z. Ahmed, 2009, American journal of human genetics.

Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene.

R. Elkon, W. Frankel, T. Möröy, 2004, Human molecular genetics.

Variants of human CLDN9 cause mild to profound hearing loss

T. Friedman, C. Philippe, C. Fenollar-Ferrer, 2021, Human mutation.

Genetic Modifiers of Hearing Loss

S. Riazuddin, T. Friedman, R. Yousaf, 2016 .

Nonsyndromic Deafness: It Ain’t Necessarily So

S. Riazuddin, T. Friedman, 2014 .

Modifier genes of hereditary hearing loss

J. Battey, S. Riazuddin, T. Friedman, 2000, Current Opinion in Neurobiology.

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

K. Arnos, A. Pandya, L. Farrer, 1998, Human Genetics.

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

A. Pandya, S. Antonarakis, J. Kudoh, 2001, Journal of medical genetics.

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

A. Starr, A. Busch, Eddie Park, 2015, PLoS genetics.

Title Mutations of Human NARS 2 , Encoding the Mitochondrial Asparaginyl-tRNA Synthetase , Cause Nonsyndromic Deafness and Leigh Syndrome Permalink

A. Starr, A. Busch, Eddie Park, 2015 .

Molecular Remodeling of Tip Links Underlies Mechanosensory Regeneration in Auditory Hair Cells

Z. Ahmed, T. Friedman, G. Frolenkov, 2013, PLoS biology.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Robert W. Taylor, I. Hochberg, W. Newman, 2021, American journal of human genetics.

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

C. Berlin, B. Keats, A. Griffith, 2000, American journal of human genetics.

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

R. Desnick, A. Griffith, T. Friedman, 2003, Journal of medical genetics.

Myosin 18Aα targets the guanine nucleotide exchange factor β‐Pix to the dendritic spines of cerebellar Purkinje neurons and promotes spine maturation

R. Petralia, T. Friedman, J. Hammer, 2021, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Myosin 18Aα targets guanine nucleotide exchange factor β-Pix to dendritic spines of cerebellar Purkinje neurons to promote spine maturation

R. Petralia, T. Friedman, J. Hammer, 2020, bioRxiv.

Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.

T. Friedman, K. Shin, U. Kim, 2011, Biochimica et biophysica acta.

A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25.

T. Friedman, R. Morell, R. Fisher, 2000, Genomics.

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family.

T. Friedman, R. Morell, J. H. Asher, 1993, Human molecular genetics.

Auditory function and the M34T allele of connexin 26.

A. Griffith, T. Friedman, 2002, Archives of Otolaryngology - Head and Neck Surgery.

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

D. Gašperíková, S. Riazuddin, Z. Ahmed, 2015, Human Genetics.

Recessive mutations of TMC1 associated with moderate to severe hearing loss

J. R. Holt, T. Friedman, S. Naz, 2016, neurogenetics.

Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

P. Sieving, A. Griffith, T. Friedman, 2014, Investigative ophthalmology & visual science.

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

S. Riazuddin, S. Riazuddin, A. Griffith, 2002, American Journal of Human Genetics.

Auditory mechanotransduction in the absence of functional myosin‐XVa

A. Griffith, T. Friedman, G. Frolenkov, 2006, The Journal of physiology.

A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

A. Schäffer, E. Gertz, A. Griffith, 2017, Journal of Medical Genetics.

Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

S. Leal, S. Riazuddin, T. Friedman, 2023, Clinical genetics.

A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait

D. Ge, H. Snieder, T. Friedman, 2007, Human Genetics.

Human inner ear OCP2 cDNA maps to 5q22-5q35.2 with related sequences on chromosomes 4p16.2-4p14, 5p13-5q22, 7pter-q22, 10 and 12p13-12qter.

T. Friedman, C. Chang, J. H. Asher, 1997, Gene.

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2010, European Journal of Human Genetics.

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

Robert W. Taylor, I. Hochberg, W. Newman, 2017, bioRxiv.

DFNB3 families and Shaker-2 mice: mutations in an unconventional myosin, myo 15.

Y. Raphael, T. Friedman, S. Camper, 2000, Advances in oto-rhino-laryngology.

Usher syndrome: hearing loss with vision loss.

Z. Ahmed, T. Friedman, C. Brewer, 2011, Advances in oto-rhino-laryngology.

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

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2001, American journal of human genetics.

Purine-resistant Drosophila melanogaster result from mutations in the adenine phosphoribosyltransferase structural gene.

T. Friedman, D. Johnson, 1983, Proceedings of the National Academy of Sciences of the United States of America.

TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing.

T. Abe, H. Kiyonari, R. Petralia, 2019, JCI insight.

Unbalanced bidirectional radial stiffness gradients within the organ of Corti promoted by TRIOBP

T. Friedman, G. Frolenkov, H. Babahosseini, 2022, Proceedings of the National Academy of Sciences of the United States of America.

ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points

A. Nuttall, Dongseok Choi, T. Friedman, 2022, The Journal of cell biology.

TRIOBP promotes bidirectional radial stiffness gradients within the organ of Corti

T. Friedman, G. Frolenkov, H. Babahosseini, 2021, bioRxiv.

Genetic causes of moderate to severe hearing loss point to modifiers

T. Friedman, C. Brewer, G. Mujtaba, 2017, Clinical genetics.

Heritability of Non-Speech Auditory Processing Skills

O. Zobay, D. Moore, A. Griffith, 2016, European Journal of Human Genetics.

Autonomous timer in malpighian tubules.

T. Friedman, D. Johnson, 1978, Science.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome

L. Rüttiger, A. Forge, O. Thoumine, 2017, Nature Communications.

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

W. Newman, Shaheen N. Khan, S. Riazuddin, 2017, Clinical genetics.