Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1.500.000 Profiles
More than 1.800 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

William Kimberling

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Concepts & Ideas

Physiology

Procedures

Anatomy

Chromosomes, Human, Pair 1

Genes & Molecular Sequences

Recessive Genes

Chemicals & Drugs

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
Grillet Nicolas; Schwander Martin; Hildebrand Michael S; Sczaniecka Anna; Kolatkar Anand; Velasco Janice; Webster Jennifer A; Kahrizi Kimia; Najmabadi Hossein; Kimberling William J; Stephan Dietrich; Bahlo Melanie; Wiltshire Tim; Tarantino Lisa M; Kuhn Peter; Smith Richard J H; Müller Ulrich
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
Shearer A Eliot; Hildebrand Michael S; Webster Jennifer A; Kahrizi Kimia; Meyer Nicole C; Jalalvand Khadijeh; Arzhanginy Sanaz; Kimberling William J; Stephan Dietrich; Bahlo Melanie; Smith Richard J H; Najmabadi Hossein
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
Jacobson Samuel G; Aleman Tomas S; Sumaroka Alexander; Cideciyan Artur V; Roman Alejandro J; Windsor Elizabeth A M; Schwartz Sharon B; Rehm Heidi L; Kimberling William J
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of William Kimberling (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

2009: Grillet Nicolas; Schwander Martin; Hildebrand Michael S; Sczaniecka Anna; Kolatkar Anand; Velasco Janice; Webster Jennifer A; Kahrizi Kimia; Najmabadi Hossein; Kimberling William J; Stephan Dietrich; Bahlo Melanie; Wiltshire Tim; Tarantino Lisa M; Kuhn Peter; Smith Richard J H; Müller Ulrich
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
American journal of human genetics 2009;85(3):328-37.
2009: Shearer A Eliot; Hildebrand Michael S; Webster Jennifer A; Kahrizi Kimia; Meyer Nicole C; Jalalvand Khadijeh; Arzhanginy Sanaz; Kimberling William J; Stephan Dietrich; Bahlo Melanie; Smith Richard J H; Najmabadi Hossein
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
The Laryngoscope 2009;119(4):727-33.
2009: Jacobson Samuel G; Aleman Tomas S; Sumaroka Alexander; Cideciyan Artur V; Roman Alejandro J; Windsor Elizabeth A M; Schwartz Sharon B; Rehm Heidi L; Kimberling William J
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.
Investigative ophthalmology & visual science 2009;50(4):1886-94.
2009: Hmani-Aifa Mounira; Benzina Zeineb; Zulfiqar Fareeha; Dhouib Houria; Shahzadi Amber; Ghorbel Abdelmonem; Rebaï Ahmed; Söderkvist Peter; Riazuddin Sheikh; Kimberling William J; Ayadi Hammadi
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.
European journal of human genetics : EJHG 2009;17(4):474-82.
2009: Shearer A Eliot; Hildebrand Michael S; Bromhead Catherine J; Kahrizi Kimia; Webster Jennifer A; Azadeh Batool; Kimberling William J; Anousheh Ali; Nazeri Arash; Stephan Dietrich; Najmabadi Hossein; Smith Richard J H; Bahlo Melanie
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
American journal of medical genetics. Part A 2009;149A(3):555-8.
2008: Reed Berenice; McFann Kim; Kimberling William J; Pei York; Gabow Patricia A; Christopher Karen; Petersen Eric; Kelleher Catherine; Fain Pamela R; Johnson Ann; Schrier Robert W
Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2008;52(6):1042-50.
2008: Hildebrand Michael S; Sorensen Jessica L; Jensen Maren; Kimberling William J; Smith Richard J H
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
American journal of medical genetics. Part A 2008;146A(17):2258-65.
2008: Jacobson Samuel G; Cideciyan Artur V; Aleman Tomas S; Sumaroka Alexander; Roman Alejandro J; Gardner Leigh M; Prosser Haydn M; Mishra Monalisa; Bech-Hansen N Torben; Herrera Waldo; Schwartz Sharon B; Liu Xue-Zhong; Kimberling William J; Steel Karen P; Williams David S
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Human molecular genetics 2008;17(15):2405-15.
2008: Oshima A; Jaijo T; Aller E; Millan J M; Carney C; Usami S; Moller C; Kimberling W J
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
Human mutation 2008;29(6):E37-46.
2008: Herrera Waldo; Aleman Tomas S; Cideciyan Artur V; Roman Alejandro J; Banin Eyal; Ben-Yosef Tamar; Gardner Leigh M; Sumaroka Alexander; Windsor Elizabeth A M; Schwartz Sharon B; Stone Edwin M; Liu Xue-Zhong; Kimberling William J; Jacobson Samuel G
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Investigative ophthalmology & visual science 2008;49(6):2651-60.
2008: Kochhar Amit; Orten Dana J; Sorensen Jessica L; Fischer Stephanie M; Cremers Cor W R J; Kimberling William J; Smith Richard J H
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
Human mutation 2008;29(4):565.
2008: Orten Dana J; Fischer Stephanie M; Sorensen Jessica L; Radhakrishna Uppala; Cremers Cor W R J; Marres Henri A M; Van Camp Guy; Welch Katherine O; Smith Richard J H; Kimberling William J
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
Human mutation 2008;29(4):537-44.
2008: Gopalarao Deepika; Kimberling William J; Jesteadt Walt; Kelley Philip M; Beauchaine Kathryn L; Cohn Edward S
Is hearing loss due to mutations in the Connexin 26 gene progressive?
International journal of audiology 2008;47(1):11-20.
2007: Azaiez Hela; Yang Tao; Prasad Sai; Sorensen Jessica L; Nishimura Carla J; Kimberling William J; Smith Richard J H
Genotype-phenotype correlations for SLC26A4-related deafness.
Human genetics 2007;122(5):451-7.
2007: Smith Richard J H; Alexander Jessy; Barlow Paul N; Botto Marina; Cassavant Thomas L; Cook H Terence; de Córdoba Santiago Rodriguez; Hageman Gregory S; Jokiranta T Sakari; Kimberling William J; Lambris John D; Lanning Lynne D; Levidiotis Vicki; Licht Christoph; Lutz Hans U; Meri Seppo; Pickering Matthew C; Quigg Richard J; Rops Angelique L; Salant David J; Sethi Sanjeev; Thurman Joshua M; Tully Hope F; Tully Sean P; van der Vlag Johan; Walker Patrick D; Würzner Reinhard; Zipfel Peter F;
New approaches to the treatment of dense deposit disease.
Journal of the American Society of Nephrology : JASN 2007;18(9):2447-56.
2007: Kochhar Amit; Fischer Stephanie M; Kimberling William J; Smith Richard J H
Branchio-oto-renal syndrome.
American journal of medical genetics. Part A 2007;143A(14):1671-8.
2007: Fishman Gerald A; Bozbeyoglu Simge; Massof Robert W; Kimberling William
Natural course of visual field loss in patients with Type 2 Usher syndrome.
Retina (Philadelphia, Pa.) 2007;27(5):601-8.
2007: Hoskins Bethan E; Cramer Carl H; Silvius Derek; Zou Dan; Raymond Richard M; Orten Dana J; Kimberling William J; Smith Richard J H; Weil Dominique; Petit Christine; Otto Edgar A; Xu Pin-Xian; Hildebrandt Friedhelm
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
American journal of human genetics 2007;80(4):800-4.
2007: Cremers Frans P M; Kimberling William J; Külm Maigi; de Brouwer Arjan P; van Wijk Erwin; te Brinke Heleen; Cremers Cor W R J; Hoefsloot Lies H; Banfi Sandro; Simonelli Francesca; Fleischhauer Johannes C; Berger Wolfgang; Kelley Phil M; Haralambous Elene; Bitner-Glindzicz Maria; Webster Andrew R; Saihan Zubin; De Baere Elfride; Leroy Bart P; Silvestri Giuliana; McKay Gareth J; Koenekoop Robert K; Millan Jose M; Rosenberg Thomas; Joensuu Tarja; Sankila Eeva-Marja; Weil Dominique; Weston Mike D; Wissinger Bernd; Kremer Hannie
Development of a genotyping microarray for Usher syndrome.
Journal of medical genetics 2007;44(2):153-60.
2006: Sadeghi André M; Eriksson Kristina; Kimberling William J; Sjöström Anders; Möller Claes
Longterm visual prognosis in Usher syndrome types 1 and 2.
Acta ophthalmologica Scandinavica 2006;84(4):537-44.
2006: Varga R; Avenarius M R; Kelley P M; Keats B J; Berlin C I; Hood L J; Morlet T G; Brashears S M; Starr A; Cohn E S; Smith R J H; Kimberling W J
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
Journal of medical genetics 2006;43(7):576-81.
2006: Excoffon Katherine J D A; Avenarius Matthew R; Hansen Marlan R; Kimberling William J; Najmabadi Hossein; Smith Richard J H; Zabner Joseph
The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear development.
Hearing research 2006;215(1-2):1-9.
2005: Kimberling William J
Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.
Human mutation 2005;26(5):462-70.
2005: Sadeghi Mehdi; Cohn Edward S; Kimberling William J; Tranebjaerg Lisbeth; Möller Claes
Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
International journal of audiology 2005;44(5):307-16.
2005: Schwartz Sharon B; Aleman Tomas S; Cideciyan Artur V; Windsor Elizabeth A M; Sumaroka Alexander; Roman Alejandro J; Rane Tej; Smilko Elaine E; Bennett Jean; Stone Edwin M; Kimberling William J; Liu Xue-Zhong; Jacobson Samuel G
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.
Investigative ophthalmology & visual science 2005;46(2):734-43.
2004: Kumar Arun; Babu Mohan; Kimberling William J; Venkatesh Conjeevaram P
Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.
Molecular vision 2004;10():910-6.
2004: Pennings Ronald J E; Topsakal Vedat; Astuto Lisa; de Brouwer Arjan P M; Wagenaar Mariette; Huygen Patrick L M; Kimberling William J; Deutman August F; Kremer Hannie; Cremers Cor W R J
Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2004;25(5):699-706.
2004: Pennings Ronald J E; Te Brinke Heleen; Weston Michael D; Claassen Annemarie; Orten Dana J; Weekamp Henriëtte; Van Aarem Annelies; Huygen Patrick L M; Deutman August F; Hoefsloot Lies H; Cremers Frans P M; Cremers Cor W R J; Kimberling William J; Kremer Hannie
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
Human mutation 2004;24(2):185.
2004: Cohn Edward; Bhattacharya Gautam; Pearsall Nicole; Shendrik Igor; Kimberling William; Cosgrove Dominic
Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of usher syndrome type IIa.
The Laryngoscope 2004;114(7):1310-4.
2004: Pennings Ronald J E; Huygen Patrick L M; Orten Dana J; Wagenaar Mariette; van Aarem Annelies; Kremer Hannie; Kimberling William J; Cremers Cor W R J; Deutman August F
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.
Acta ophthalmologica Scandinavica 2004;82(2):131-9.
2004: Sadeghi Mehdi; Cohn Edward S; Kelly William J; Kimberling William J; Tranebjoerg Lisbeth; Möller Claes
Audiological findings in Usher syndrome types IIa and II (non-IIa).
International journal of audiology 2004;43(3):136-43.
2004: Iannaccone Alessandro; Kritchevsky Stephen B; Ciccarelli Maria Laura; Tedesco Salvatore A; Macaluso Claudio; Kimberling William J; Somes Grant W
Kinetics of visual field loss in Usher syndrome Type II.
Investigative ophthalmology & visual science 2004;45(3):784-92.
2004: Weston Michael D; Luijendijk Mirjam W J; Humphrey Kurt D; Möller Claes; Kimberling William J
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
American journal of human genetics 2004;74(2):357-66.
2004: Kimberling William J
Transcription, translation, and transitions.
Audiology & neuro-otology 2004;9(1):1.
2004: Bhattacharya Gautam; Kalluri Raghu; Orten Dana J; Kimberling William J; Cosgrove Dominic
A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure.
Journal of cell science 2004;117(Pt 2):233-42.
2003: Alford Raye L; Friedman Thomas B; Keats Bronya J B; Kimberling William J; Proud Virginia K; Smith Richard J H; Arnos Kathleen S; Korf Bruce R; Rehm Heidi L; Toriello Helga V
Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.
Genetics in medicine : official journal of the American College of Medical Genetics 2003;5(4):338-41.
2003: Kimberling William J
Uncertainties in the molecular diagnosis of recessive hearing loss disorders.
Genetics in medicine : official journal of the American College of Medical Genetics 2003;5(4):259-60.
2003: Pennings Ronald J E; Fields Randall R; Huygen Patrick L M; Deutman August F; Kimberling William J; Cremers Cor W R J
Usher syndrome type III can mimic other types of Usher syndrome.
The Annals of otology, rhinology, and laryngology 2003;112(6):525-30.
2003: de Brouwer Arjan P M; Pennings Ronald J E; Roeters Marjolijn; Van Hauwe Peter; Astuto Lisa M; Hoefsloot Lies H; Huygen Patrick L M; van den Helm Bellinda; Deutman August F; Bork Julie M; Kimberling William J; Cremers Frans P M; Cremers Cor W R J; Kremer Hannie
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
Human genetics 2003;112(2):156-63.
2003: Pennings Ronald J E; Huygen Patrick L M; Weston Michael D; van Aarem Annelies; Wagenaar Mariette; Kimberling William J; Cremers Cor W R J
Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2003;24(1):58-63.
2003: Varga R; Kelley P M; Keats B J; Starr A; Leal S M; Cohn E; Kimberling W J
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
Journal of medical genetics 2003;40(1):45-50.
2002: Pennings R J E; Kremer H; Deutman A F; Kimberling W J; Cremers C W R J
[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)]
Nederlands tijdschrift voor geneeskunde 2002;146(49):2354-8.
2002: Reisser Christoph F V; Kimberling William J; Otterstedde Christian R
Hearing loss in Usher syndrome type II is nonprogressive.
The Annals of otology, rhinology, and laryngology 2002;111(12 Pt 1):1108-11.
2002: Pearsall Nicole; Bhattacharya Gautam; Wisecarver Jim; Adams Joe; Cosgrove Dominic; Kimberling William
Usherin expression is highly conserved in mouse and human tissues.
Hearing research 2002;174(1-2):55-63.
2002: Fields Randall R; Zhou Guimei; Huang Dali; Davis Jack R; Möller Claes; Jacobson Samuel G; Kimberling William J; Sumegi Janos
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
American journal of human genetics 2002;71(3):607-17.
2002: Huang Dali; Eudy James D; Uzvolgyi Eva; Davis Jack R; Talmadge Catherine B; Pretto Dalyir; Weston Michael D; Lehman Janae E; Zhou Ming; Seemayer Thomas A; Ahmad Iqbal; Kimberling William J; Sumegi Janos
Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease.
Genomics 2002;80(2):195-203.
2002: Astuto L M; Bork J M; Weston M D; Askew J W; Fields R R; Orten D J; Ohliger S J; Riazuddin S; Morell R J; Khan S; Riazuddin S; Kremer H; van Hauwe P; Moller C G; Cremers C W R J; Ayuso C; Heckenlively J R; Rohrschneider K; Spandau U; Greenberg J; Ramesar R; Reardon W; Bitoun P; Millan J; Legge R; Friedman T B; Kimberling W J
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
American journal of human genetics 2002;71(2):262-75.
2002: Astuto Lisa M; Kelley Philip M; Askew James W; Weston Michael D; Smith Richard J H; Alswaid Abdulrahman F; Al-Rakaf Mona; Kimberling William J
Searching for evidence of DFNB2.
American journal of medical genetics 2002;109(4):291-7.
2002: Hmani-Aifa M; Ben Arab S; Kharrat K; Orten D J; Boulila-Elgaied A; Drira M; Hachicha S; Kimberling W J; Ayadi H
Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome.
Journal of medical genetics 2002;39(4):281-3.
2002: Bhattacharya Gautam; Miller Caroline; Kimberling William J; Jablonski Monica M; Cosgrove Dominic
Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa.
Hearing research 2002;163(1-2):1-11.
2002: Pennings R J E; Wagenaar M; van Aarem A; Huygen P L M; Kimberling W J; Cremers C W R J
Hearing impairment in Usher's syndrome.
Advances in oto-rhino-laryngology 2002;61():184-91.
2001: Abe S; Kelley P M; Kimberling W J; Usami S I
Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.
American journal of medical genetics 2001;103(4):334-8.
2001: Dreyer B; Tranebjaerg L; Brox V; Rosenberg T; Möller C; Beneyto M; Weston M D; Kimberling W J; Cremers C W; Liu X Z; Nilssen O
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
American journal of human genetics 2001;69(1):228-34.
2001: Leroy B P; Aragon-Martin J A; Weston M D; Bessant D A; Willis C; Webster A R; Bird A C; Kimberling W J; Payne A M; Bhattacharya S S
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
Experimental eye research 2001;72(5):503-9.
2001: Otterstedde C R; Spandau U; Blankenagel A; Kimberling W J; Reisser C
A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I.
The Laryngoscope 2001;111(1):84-6.
2001: Namba A; Abe S; Shinkawa H; Kimberling W J; Usami S I
Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.
Journal of human genetics 2001;46(9):518-21.
2001: Akita J; Abe S; Shinkawa H; Kimberling W J; Usami S
Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.
Journal of human genetics 2001;46(7):355-61.
2000: Astuto L M; Weston M D; Carney C A; Hoover D M; Cremers C W; Wagenaar M; Moller C; Smith R J; Pieke-Dahl S; Greenberg J; Ramesar R; Jacobson S G; Ayuso C; Heckenlively J R; Tamayo M; Gorin M B; Reardon W; Kimberling W J
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.
American journal of human genetics 2000;67(6):1569-74.
2000: Wagenaar M; Schuknecht H; Nadol J; Benraad-Van Rens M; Pieke-Dahl S; Kimberling W; Cremers C
Histopathologic features of the temporal bone in usher syndrome type I.
Archives of otolaryngology--head & neck surgery 2000;126(8):1018-23.
2000: Dreyer B; Tranebjaerg L; Rosenberg T; Weston M D; Kimberling W J; Nilssen O
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
European journal of human genetics : EJHG 2000;8(7):500-6.
2000: Kumar S; Deffenbacher K; Marres H A; Cremers C W; Kimberling W J
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.
American journal of human genetics 2000;66(5):1715-20.
2000: Kelley P M; Cohn E; Kimberling W J
Connexin 26: required for normal auditory function.
Brain research. Brain research reviews 2000;32(1):184-8.
2000: Pieke-Dahl S; Möller C G; Kelley P M; Astuto L M; Cremers C W; Gorin M B; Kimberling W J
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.
Journal of medical genetics 2000;37(4):256-62.
2000: Adato A; Weston M D; Berry A; Kimberling W J; Bonne-Tamir A
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
Human mutation 2000;15(4):388.
2000: Weston M D; Eudy J D; Fujita S; Yao S; Usami S; Cremers C; Greenberg J; Ramesar R; Martini A; Moller C; Smith R J; Sumegi J; Kimberling W J;
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
American journal of human genetics 2000;66(4):1199-210.
2000: Abe S; Usami S; Shinkawa H; Kelley P M; Kimberling W J
Prevalent connexin 26 gene (GJB2) mutations in Japanese.
Journal of medical genetics 2000;37(1):41-3.
2000: Orten D J; Weston M D; Kelley P M; Cremers C W; Wagenaar M; Jacobson S G; Kimberling W J
Erratum: analysis of DNA elements that modulate myosin VIIa expression in humans.
Human mutation 2000;15(1):114-5.
2000: Usami S; Abe S; Akita J; Shinkawa H; Kimberling W J
Sensorineural hearing loss associated with the mitochondrial mutations.
Advances in oto-rhino-laryngology 2000;56():203-11.
2000: Kimberling W J; Orten D; Pieke-Dahl S
Genetic heterogeneity of Usher syndrome.
Advances in oto-rhino-laryngology 2000;56():11-8.
1999: Kelley P M; Abe S; Askew J W; Smith S D; Usami S i; Kimberling W J
Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.
Genomics 1999;62(2):172-6.
1999: Wagenaar M; Draaijer P; Meek H; ten Donkelaar H J; Wesseling P; Kimberling W; Cremers C
The cochlear nuclei in two patients with Usher syndrome type I.
International journal of pediatric otorhinolaryngology 1999;50(3):185-95.
1999: Orten D J; Weston M D; Kelley P M; Cremers C W; Wagenaar M; Jacobson S G; Kimberling W J
Analysis of DNA elements that modulate myosin VIIA expression in humans.
Human mutation 1999;14(4):354.
1999: Beiraghi S; Miller-Chisholm A; Kimberling W J; Sun C E; Wang Y F; Russell L J; Khoshnevisan M; Storm A L; Long R E; Witt P D; Mazaheri M; Diehl S R
Confirmation of linkage of Van der Woude syndrome to chromosome 1q32: evidence of association with STR alleles suggests possible unique origin of the disease mutation.
Journal of craniofacial genetics and developmental biology 1999;19(3):128-34.
1999: van Aarem A; Wagenaar M; Tonnaer E; Pieke Dahl S; Bisseling J; Janssen H; Bastiaans B; Kimberling W; Cremers C
Semen analysis in the Usher syndrome type 2A.
ORL; journal for oto-rhino-laryngology and its related specialties 1999;61(3):126-30.
1999: Wagenaar M; van Aarem A; Huygen P; Pieke-Dahl S; Kimberling W; Cremers C
Hearing impairment related to age in Usher syndrome types 1B and 2A.
Archives of otolaryngology--head & neck surgery 1999;125(4):441-5.
1999: Cohn E S; Kelley P M; Fowler T W; Gorga M P; Lefkowitz D M; Kuehn H J; Schaefer G B; Gobar L S; Hahn F J; Harris D J; Kimberling W J
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
Pediatrics 1999;103(3):546-50.
1999: Usami S; Abe S; Weston M D; Shinkawa H; Van Camp G; Kimberling W J
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
Human genetics 1999;104(2):188-92.
1999: Abe S; Usami S; Hoover D M; Cohn E; Shinkawa H; Kimberling W J
Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.
American journal of medical genetics 1999;82(4):322-8.
1999: Usami S; Abe S; Shinkawa H; Deffenbacher K; Kumar S; Kimberling W J
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family.
Journal of human genetics 1999;44(4):261-5.
1998: Abe S; Usami S; Shinkawa H; Weston M D; Overbeck L D; Hoover D M; Kenyon J B; Horai S; Kimberling W J
Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.
European journal of human genetics : EJHG 1998;6(6):563-9.
1998: Schaefer G B; Bodensteiner J B; Thompson J N; Kimberling W J; Craft J M
Volumetric neuroimaging in Usher syndrome: evidence of global involvement.
American journal of medical genetics 1998;79(1):1-4.
1998: Eudy J D; Yao S; Weston M D; Ma-Edmonds M; Talmadge C B; Cheng J J; Kimberling W J; Sumegi J
Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41.
Genomics 1998;50(3):382-4.
1998: Eudy J D; Weston M D; Yao S; Hoover D M; Rehm H L; Ma-Edmonds M; Yan D; Ahmad I; Cheng J J; Ayuso C; Cremers C; Davenport S; Moller C; Talmadge C B; Beisel K W; Tamayo M; Morton C C; Swaroop A; Kimberling W J; Sumegi J
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Science (New York, N.Y.) 1998;280(5370):1753-7.
1998: Verhoeven K; Van Laer L; Kirschhofer K; Legan P K; Hughes D C; Schatteman I; Verstreken M; Van Hauwe P; Coucke P; Chen A; Smith R J; Somers T; Offeciers F E; Van de Heyning P; Richardson G P; Wachtler F; Kimberling W J; Willems P J; Govaerts P J; Van Camp G
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
Nature genetics 1998;19(1):60-2.
1998: Usami S; Abe S; Tono T; Komune S; Kimberling W J; Shinkawa H
Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555 A-->G mitochondrial mutation.
ORL; journal for oto-rhino-laryngology and its related specialties 1998;60(3):164-9.
1998: Kumar S; Marres H A; Cremers C W; Kimberling W J
Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.
American journal of medical genetics 1998;76(5):395-401.
1998: Kelley P M; Harris D J; Comer B C; Askew J W; Fowler T; Smith S D; Kimberling W J
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
American journal of human genetics 1998;62(4):792-9.
1998: Kirschhofer K; Kenyon J B; Hoover D M; Franz P; Weipoltshammer K; Wachtler F; Kimberling W J
Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.
Cytogenetics and cell genetics 1998;82(1-2):126-30.
1998: Kumar S; Kimberling W J; Weston M D; Schaefer B G; Berg M A; Marres H A; Cremers C W
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
Human mutation 1998;11(6):443-9.
1997: Pieke-Dahl S; Ohlemiller K K; McGee J; Walsh E J; Kimberling W J
Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa.
Hearing research 1997;112(1-2):1-12.
1997: Farjo Q; Jackson A; Pieke-Dahl S; Scott K; Kimberling W J; Sieving P A; Richards J E; Swaroop A
Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration.
Genomics 1997;45(2):395-401.
1997: Eudy J D; Ma-Edmonds M; Yao S F; Talmadge C B; Kelley P M; Weston M D; Kimberling W J; Sumegi J
Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32.
Genomics 1997;43(1):104-6.
1997: Johnson M L; Gong G; Kimberling W; Reckér S M; Kimmel D B; Recker R B
Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13)
American journal of human genetics 1997;60(6):1326-32.
1997: Usami S; Abe S; Kasai M; Shinkawa H; Moeller B; Kenyon J B; Kimberling W J
Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation.
The Laryngoscope 1997;107(4):483-90.
1997: Kelley P M; Weston M D; Chen Z Y; Orten D J; Hasson T; Overbeck L D; Pinnt J; Talmadge C B; Ing P; Mooseker M S; Corey D; Sumegi J; Kimberling W J
The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).
Genomics 1997;40(1):73-9.
1997: Kumar S; Deffenbacher K; Cremers C W; Van Camp G; Kimberling W J
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.
Genetic testing 1997;1(4):243-51.
1996: van Aarem A; Pinckers A J; Kimberling W J; Huygen P L; Bleeker-Wagemakers E M; Cremers C W
Stable and progressive hearing loss in type 2A Usher's syndrome.
The Annals of otology, rhinology, and laryngology 1996;105(12):962-7.
1996: Wagenaar M; Snik A F; Kimberling W J; Cremers C W
Carriers of the Usher syndrome type IB: is audiometric identification possible?
The American journal of otology 1996;17(6):853-8.
1996: Weston M D; Kelley P M; Overbeck L D; Wagenaar M; Orten D J; Hasson T; Chen Z Y; Corey D; Mooseker M; Sumegi J; Cremers C; Moller C; Jacobson S G; Gorin M B; Kimberling W J
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
American journal of human genetics 1996;59(5):1074-83.
1996: Chen Z Y; Hasson T; Kelley P M; Schwender B J; Schwartz M F; Ramakrishnan M; Kimberling W J; Mooseker M S; Corey D P
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.
Genomics 1996;36(3):440-8.
1996: Pieke-Dahl S; van Aarem A; Dobin A; Cremers C W; Kimberling W J
Genetic heterogeneity of Usher syndrome type II in a Dutch population.
Journal of medical genetics 1996;33(9):753-7.
1996: Sumegi J; Wang J Y; Zhen D K; Eudy J D; Talmadge C B; Li B F; Berglund P; Weston M D; Yao S F; Ma-Edmonds M; Overbeck L; Kelley P M; Zabarovsky E; Uzvolgyi E; Stanbridge E J; Klein G; Kimberling W J
The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41.
Genomics 1996;35(1):79-86.
1996: Kumar S; Kimberling W J; Lanyi A; Sumegi J; Pinnt J; Ing P; Tinley S; Marres H A; Cremers C W
Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q.
Genomics 1996;31(1):71-9.
1996: Kimberling W J; Yium J J; Johnson A M; Gabow P A; Martinez-Maldonado M
Genetic studies in a black family with autosomal dominant polycystic kidney disease and sickle-cell trait.
Nephron 1996;72(4):595-8.
1995: Wagenaar M; ter Rahe B; van Aarem A; Huygen P; Admiraal R; Bleeker-Wagemakers E; Pinckers A; Kimberling W; Cremers C
Clinical findings in obligate carriers of type I Usher syndrome.
American journal of medical genetics 1995;59(3):375-9.
1995: Talmadge C B; Zhen D K; Wang J Y; Berglund P; Li B F; Weston M D; Kimberling W J; Zabarovsky E R; Stanbridge E J; Klein G
Construction and characterization of a NotI linking library from human chromosome region 1q25-qter.
Genomics 1995;29(1):105-14.
1995: Cremers C W; Brown S D; Steel K P; Brunner H G; Read A P; Kimberling W J
Gene linkage and genetic deafness.
International journal of pediatric otorhinolaryngology 1995;32 Suppl():S167-74.
1995: Ivy D D; Shaffer E M; Johnson A M; Kimberling W J; Dobin A; Gabow P A
Cardiovascular abnormalities in children with autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN 1995;5(12):2032-6.
1995: Kimberling W J; Weston M D; Möller C; van Aarem A; Cremers C W; Sumegi J; Ing P S; Connolly C; Martini A; Milani M
Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41.
American journal of human genetics 1995;56(1):216-23.
1995: Kimberling W J; Möller C
Clinical and molecular genetics of Usher syndrome.
Journal of the American Academy of Audiology 1995;6(1):63-72.
1994: Kumar S; Kimberling W J; Connolly C J; Tinley S; Marres H A; Cremers C W
Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.
American journal of human genetics 1994;55(6):1188-94.
1994: Weston M D; Kimberling W J
Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41.
Human molecular genetics 1994;3(7):1212.
1994: Weston M D; Zhen D K; Sumegi J; Kimberling W J
Dinucleotide repeat polymorphism in the TGFB2 gene.
Human molecular genetics 1994;3(7):1211.
1994: Weston M D; Zhen D K; Sumegi J; Kimberling W J
Dinucleotide repeat polymorphism at D1S556.
Human molecular genetics 1994;3(7):1211.
1993: Kimberling W J; Kumar S; Gabow P A; Kenyon J B; Connolly C J; Somlo S
Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23.
Genomics 1993;18(3):467-72.
1993: Pieke Dahl S; Kimberling W J; Gorin M B; Weston M D; Furman J M; Pikus A; Möller C
Genetic heterogeneity of Usher syndrome type II.
Journal of medical genetics 1993;30(10):843-8.
1993: Dahl S P; Weston M D; Overbeck L D; Evans K L; Porteous D J; Kimberling W J
Dinucleotide repeat polymorphism at the human olfactory marker protein (OMP) locus on chromosome 11q13.5 near tyrosinase (TYR).
Human molecular genetics 1993;2(6):822.
1993: Overbeck L D; Weston M D; Kimberling W J; Evans G A
Dinucleotide (CT)n (CA)n repeat polymorphism for D11S787 on chromosome 11q13.4.
Human molecular genetics 1993;2(5):611.
1993: Dobin A; Kimberling W J; Pettinger W; Bailey-Wilson J E; Shugart Y Y; Gabow P
Segregation analysis of autosomal dominant polycystic kidney disease.
Genetic epidemiology 1993;10(3):189-200.
1993: Traystman M D; Schulte N; Colombo J L; Sammut P H; Reilly P; Patel C; Acquazzino D; Simanek B; Anderson R; Kimberling W J
Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center.
Human mutation 1993;2(1):7-15.
1992: Kimberling W J; Möller C G; Davenport S; Priluck I A; Beighton P H; Greenberg J; Reardon W; Weston M D; Kenyon J B; Grunkemeyer J A
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.
Genomics 1992;14(4):988-94.
1992: Kimberling W; Smith R J
Gene mapping of the Usher syndromes.
Otolaryngologic clinics of North America 1992;25(5):923-34.
1992: Kumar S; Kimberling W J; Kenyon J B; Smith R J; Marres H A; Cremers C W
Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.
Human molecular genetics 1992;1(7):491-5.
1992: Overbeck L D; Weston M D; Kimberling W J; Johnson D H
A new highly polymorphic dinucleotide (CT)n repeat polymorphism D1S158 on chromosome 1q isolated by microdissection.
Human molecular genetics 1992;1(2):141.
1991: Kimberling W J; Pieke-Dahl S A; Kumar S
The genetics of cystic diseases of the kidney.
Seminars in nephrology 1991;11(6):596-606.
1991: Kumar S; Kimberling W J; Gabow P A; Kenyon J B
Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family.
Human genetics 1991;87(2):129-33.
1991: Pieke Dahl S; Weston M D; Kimberling W J; Kenyon J B; Shugart Y Y; Smith R J
Report on attempts to localize Usher syndrome type 1 by linkage analysis to selected candidate regions.
Annals of the New York Academy of Sciences 1991;630():298-300.
1991: Ing P S; Wernimont B M; Smith S D; Kimberling W J
National Deaf Register as a resource for hereditary deafness research.
Annals of the New York Academy of Sciences 1991;630():292.
1991: Comeau K; Kimberling W J; Cremers C W; Shugart Y
The search for branchiootorenal syndrome on chromosomes 1 and 8.
Annals of the New York Academy of Sciences 1991;630():288-9.
1991: Weston M D; Kimberling W J; Möller C G; Pieke Dahl S; Smith R J; Martini A; Milani M
A progress report on the localization of Usher syndrome type II to chromosome 1q.
Annals of the New York Academy of Sciences 1991;630():284-7.
1991: Kimberling W J; Weston M D; Pieke Dahl S; Kenyon J B; Shugart Y Y; Moller C; Davenport S L; Martini A; Milani M; Smith R J
Genetic studies of Usher syndrome.
Annals of the New York Academy of Sciences 1991;630():167-75.
1990: Kumar S; Kimberling W J; Gabow P A; Shugart Y Y; Pieke-Dahl S
Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1.
Journal of medical genetics 1990;27(11):697-700.
1990: Kimberling W J; Weston M D; Möller C; Davenport S L; Shugart Y Y; Priluck I A; Martini A; Milani M; Smith R J
Localization of Usher syndrome type II to chromosome 1q.
Genomics 1990;7(2):245-9.
1989: Möller C G; Kimberling W J; Davenport S L; Priluck I; White V; Biscone-Halterman K; Odkvist L M; Brookhouser P E; Lund G; Grissom T J
Usher syndrome: an otoneurologic study.
The Laryngoscope 1989;99(1):73-9.
1989: Kimberling W J; Möller C G; Davenport S L; Lund G; Grissom T J; Priluck I; White V; Weston M D; Biscone-Halterman K; Brookhouser P E
Usher syndrome: clinical findings and gene localization studies.
The Laryngoscope 1989;99(1):66-72.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

William Kimberling

Research Profile (preview)

Disorders

Concepts & Ideas

Physiology

Procedures

Anatomy

Genes & Molecular Sequences

Chemicals & Drugs

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of William Kimberling (preview)

All Publications