E. Wilcox

发表

Targeted Amplicon Sequencing (TAS): A Scalable Next-Gen Approach to Multilocus, Multitaxa Phylogenetics

Mark J. Clement, Keith A. Crandall, Seth M. Bybee, 2011, Genome biology and evolution.

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

A. Lalwani, J. Fex, J. R. Brister, 1994, American journal of human genetics.

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

S. Leal, G. Merlino, S. Riazuddin, 2009, American journal of human genetics.

A mutation in PDS causes non-syndromic recessive deafness

E. Green, T. Friedman, A. Lalwani, 1998, Nature Genetics.

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2005, Human Genetics.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2004, BMC Medical Genetics.

Recent Advances in the Understanding of Syndromic Forms of Hearing Loss

S. Riazuddin, Z. Ahmed, A. Griffith, 2003, Ear and hearing.

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2004, Human Genetics.

Realizing the promise of biodiversity genomics with highly accurate long reads

R. Stewart, P. Frandsen, S. Hotaling, 2022 .

A study of common scorpionfly (Mecoptera: Panorpidae) visual systems reveals the expression of a single opsin

Seth M. Bybee, M. Whiting, E. Wilcox, 2016, Organisms Diversity & Evolution.

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

T. Walsh, M. King, B. Fernandez, 2009, European Journal of Human Genetics.

The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4.

E. Green, A. Lalwani, E. Wilcox, 2000, Advances in oto-rhino-laryngology.

The first two authors should be regarded as joint first authors

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2002 .

Genetic modifiers of hereditary hearing loss.

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2002, Advances in oto-rhino-laryngology.

A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration.

A. Lalwani, W. Luxford, A. Mhatre, 1999, American journal of human genetics.

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.

V. Sheffield, D. Nishimura, G. Van Camp, 1996, Human molecular genetics.

Genotype‐Phenotype Correlations in Type 1 Waardenburg Syndrome

A. Lalwani, A. Mhatre, E. Wilcox, 1996, The Laryngoscope.

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.

Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13.

G. Van Camp, E. Wilcox, W. McGuirt, 2000, Advances in oto-rhino-laryngology.

Mutations of MYO6 are associated with recessive deafness, DFNB37.

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

A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.

F. Linthicum, A. Lalwani, M. R. Miller, 1997, Audiology & neuro-otology.

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.

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 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 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.

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

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

Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

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

A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.

A. Lalwani, E. Wilcox, C. Wang, 1998, Molecular and cellular probes.

A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).

A. Lalwani, E. Wilcox, A. Attaie, 1997, Molecular and cellular probes.

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 .

A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

A. Lalwani, I. Verma, E. Wilcox, 1998, Genomics.

A New Strain of Bacillus thuringiensis with Activity Against Coleopteran Insects

C. Herrnstadt, E. Wilcox, D. L. Edwards, 1986, Bio/Technology.

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.

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.

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.

A study of common scorpionfly (Mecoptera: Panorpidae) visual systems reveals the expression of a single opsin

Seth M. Bybee, M. Whiting, E. Wilcox, 2016, Organisms Diversity & Evolution.

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

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

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.

Shelley D. Smith, P. Coucke, C. Srisailapathy, 1995, Genome research.

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

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

Some Deafness-Causing Mutations Can Be Silenced with the Appropriate Gene Partner

E. Wilcox, S. Riazuddin, 2001, TheScientificWorldJournal.

Modifier genes of hereditary hearing loss

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

Highly accurate long reads are crucial for realizing the potential of biodiversity genomics

R. Stewart, P. Frandsen, S. Hotaling, 2022, bioRxiv.

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.

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

A. Lalwani, A. Mhatre, E. Wilcox, 1998, American journal of medical 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.

Author ' s response to reviews

E. Ives, S. Luscombe, E. Wilcox, 2004 .

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.

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.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

A. Pandya, Shaheen N. Khan, S. Riazuddin, 2003, Journal of medical genetics.

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

F. Bess, E. Wilcox, M. Lesperance, 1995, Human molecular genetics.

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

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

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

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

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

K. Arnos, L. Farrer, C. Baldwin, 1994, American journal of human genetics.