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Val Sheffield

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.

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Publications

TOP 3
Walder Roxanne Y; Yang Baoli; Stokes John B; Kirby Patricia A; Cao Xiao; Shi Peijun; Searby Charles C; Husted Russell F; Sheffield Val C
Mice defective in Trpm6 show embryonic mortality and neural tube defects.
Kaushik Anjan P; Martin James A; Zhang Qihong; Sheffield Val C; Morcuende Jose A
Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.
Shyy William; Dietz Frederick; Dobbs Matthew B; Sheffield Val C; Morcuende Jose A
Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.

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All Publications

2009: Walder Roxanne Y; Yang Baoli; Stokes John B; Kirby Patricia A; Cao Xiao; Shi Peijun; Searby Charles C; Husted Russell F; Sheffield Val C
Mice defective in Trpm6 show embryonic mortality and neural tube defects.
Human molecular genetics 2009;18(22):4367-75.
2009: Kaushik Anjan P; Martin James A; Zhang Qihong; Sheffield Val C; Morcuende Jose A
Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society 2009;27(8):1093-9.
2009: Shyy William; Dietz Frederick; Dobbs Matthew B; Sheffield Val C; Morcuende Jose A
Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.
Clinical orthopaedics and related research 2009;467(5):1201-5.
2009: Seo Seongjin; Guo Deng-Fu; Bugge Kevin; Morgan Donald A; Rahmouni Kamal; Sheffield Val C
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
Human molecular genetics 2009;18(7):1323-31.
2008: Davis Lea K; Hazlett Heather C; Librant Amy L; Nopoulos Peggy; Sheffield Val C; Piven Joesph; Wassink Thomas H
Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(7):1145-51.
2008: Fingert John H; Oh Kean; Chung Mina; Scheetz Todd E; Andorf Jeaneen L; Johnson Rebecca M; Sheffield Val C; Stone Edwin M
Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.
Archives of ophthalmology 2008;126(9):1301-7.
2008: Tayeh Marwan K; Yen Hsan-Jan; Beck John S; Searby Charles C; Westfall Trudi A; Griesbach Hilary; Sheffield Val C; Slusarski Diane C
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.
Human molecular genetics 2008;17(13):1956-67.
2008: Davis L K; Meyer K J; Rudd D S; Librant A L; Epping E A; Sheffield V C; Wassink T H
Pax6 3' deletion results in aniridia, autism and mental retardation.
Human genetics 2008;123(4):371-8.
2008: Thompson Stewart; Foster Russell G; Stone Edwin M; Sheffield Val C; Mrosovsky N
Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light.
The European journal of neuroscience 2008;27(8):1973-9.
2008: Wassink Thomas H; Vieland Veronica J; Sheffield Val C; Bartlett Christopher W; Goedken Rhinda; Childress Deborah; Piven Joseph
Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16.
Psychiatric genetics 2008;18(2):85-91.
2008: Rahmouni Kamal; Fath Melissa A; Seo Seongjin; Thedens Daniel R; Berry Christopher J; Weiss Robert; Nishimura Darryl Y; Sheffield Val C
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
The Journal of clinical investigation 2008;118(4):1458-67.
2008: Shah Shaival S; Al-Rajhi Ali; Brandt James D; Mannis Mark J; Roos Ben; Sheffield Val C; Syed Nasreen A; Stone Edwin M; Fingert John H
Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.
Ophthalmic genetics 2008;29(1):41-5.
2008: Shankar Suma P; Fingert John H; Carelli Valerio; Valentino Maria L; King Terri M; Daiger Stephen P; Salomao Solange R; Berezovsky Adriana; Belfort Rubens; Braun Terri A; Sheffield Val C; Sadun Alfredo A; Stone Edwin M
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.
Ophthalmic genetics 2008;29(1):17-24.
2008: Shah Alok S; Farmen Sara L; Moninger Thomas O; Businga Thomas R; Andrews Michael P; Bugge Kevin; Searby Charles C; Nishimura Darryl; Brogden Kim A; Kline Joel N; Sheffield Val C; Welsh Michael J
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(9):3380-5.
2008: Wang Wan-Heng; McNatt Loretta G; Pang Iok-Hou; Millar J Cameron; Hellberg Peggy E; Hellberg Mark H; Steely H Thomas; Rubin Jeffrey S; Fingert John H; Sheffield Val C; Stone Edwin M; Clark Abbot F
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure.
The Journal of clinical investigation 2008;118(3):1056-64.
2008: Hjortshøj Tina Duelund; Grønskov Karen; Philp Alisdair R; Nishimura Darryl Y; Adeyemo Adebowale; Rotimi Charles N; Sheffield Val C; Rosenberg Thomas; Brøndum-Nielsen Karen
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
American journal of medical genetics. Part A 2008;146A(4):517-20.
2007: O'Leary Brian M; Davis Steven G; Smith Michael F; Brown Bartley; Kemp Mathew B; Almabrazi Hakeem; Grundstad Jason A; Burns Thomas; Leontiev Vladimir; Andorf Jeaneen; Clark Abbot F; Sheffield Val C; Casavant Thomas L; Scheetz Todd E; Stone Edwin M; Braun Terry A
Transcript annotation prioritization and screening system (TrAPSS) for mutation screening.
Journal of bioinformatics and computational biology 2007;5(6):1155-72.
2007: Fingert John H; Alward Wallace L M; Kwon Young H; Wang Kai; Streb Luan M; Sheffield Val C; Stone Edwin M
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States.
American journal of ophthalmology 2007;144(6):974-975.
2007: Davis Roger E; Swiderski Ruth E; Rahmouni Kamal; Nishimura Darryl Y; Mullins Robert F; Agassandian Khristofor; Philp Alisdair R; Searby Charles C; Andrews Michael P; Thompson Stewart; Berry Christopher J; Thedens Daniel R; Yang Baoli; Weiss Robert M; Cassell Martin D; Stone Edwin M; Sheffield Val C
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(49):19422-7.
2007: Swiderski Ruth E; Nishimura Darryl Y; Mullins Robert F; Olvera Marissa A; Ross Jean L; Huang Jian; Stone Edwin M; Sheffield Val C
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.
Investigative ophthalmology & visual science 2007;48(7):3329-40.
2007: Nachury Maxence V; Loktev Alexander V; Zhang Qihong; Westlake Christopher J; Peränen Johan; Merdes Andreas; Slusarski Diane C; Scheller Richard H; Bazan J Fernando; Sheffield Val C; Jackson Peter K
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
Cell 2007;129(6):1201-13.
2007: Fingert John H; Honkanen Robert A; Shankar Suma P; Affatigato Louisa M; Ehlinger Mary A; Moore Michael D; Jampol Lee M; Sheffield Val C; Stone Edwin M; Alward Wallace L M
Familial cavitary optic disk anomalies: identification of a novel genetic locus.
American journal of ophthalmology 2007;143(5):795-800.
2007: Wassink Thomas H; Losh Molly; Piven Joseph; Sheffield Val C; Ashley Elizabeth; Westin Erik R; Patil Shivanand R
Systematic screening for subtelomeric anomalies in a clinical sample of autism.
Journal of autism and developmental disorders 2007;37(4):703-8.
2007: Fingert John H; Grassi Michael A; Janutka Josesph C; East Jade S; Howard James G; Sheffield Val C; Jacobson Dan M; Hayreh Sohan S; Stone Edwin M
Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree.
Ophthalmic genetics 2007;28(1):1-7.
2007: Fingert John H; Alward Wallace L M; Kwon Young H; Shankar Suma P; Andorf Jeaneen L; Mackey David A; Sheffield Val C; Stone Edwin M
No association between variations in the WDR36 gene and primary open-angle glaucoma.
Archives of ophthalmology 2007;125(3):434-6.
2007: Shepard Allan R; Jacobson Nasreen; Millar J Cameron; Pang Iok-Hou; Steely H Thomas; Searby Charles C; Sheffield Val C; Stone Edwin M; Clark Abbot F
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.
Human molecular genetics 2007;16(6):609-17.
2007: White Dominic R A; Ganesh Anuradha; Nishimura Darryl; Rattenberry Eleanor; Ahmed Shakeel; Smith Ursula M; Pasha Shanaz; Raeburn Sandy; Trembath Richard C; Rajab Anna; Macdonald Fiona; Banin Eyal; Stone Edwin M; Johnson Colin A; Sheffield Val C; Maher Eamonn R
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
European journal of human genetics : EJHG 2007;15(2):173-8.
2007: Grassi Michael A; Folk James C; Scheetz Todd E; Taylor Christine M; Sheffield Val C; Stone Edwin M
Complement factor H polymorphism p.Tyr402His and cuticular Drusen.
Archives of ophthalmology 2007;125(1):93-7.
2006: Azari Amir A; Aleman Tomas S; Cideciyan Artur V; Schwartz Sharon B; Windsor Elizabeth A M; Sumaroka Alexander; Cheung Andy Y; Steinberg Janet D; Roman Alejandro J; Stone Edwin M; Sheffield Val C; Jacobson Samuel G
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
Investigative ophthalmology & visual science 2006;47(11):5004-10.
2006: Scheetz Todd E; Kim Kwang-Youn A; Swiderski Ruth E; Philp Alisdair R; Braun Terry A; Knudtson Kevin L; Dorrance Anne M; DiBona Gerald F; Huang Jian; Casavant Thomas L; Sheffield Val C; Stone Edwin M
Regulation of gene expression in the mammalian eye and its relevance to eye disease.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(39):14429-34.
2006: Fingert John H; Kwon Young H; Moore Paula A; Johnston Rebecca M; Kim Kwang-Youn; Sheffield Val C; Alward Wallace L M; Stone Edwin M
The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa.
Ophthalmic genetics 2006;27(2):39-41.
2006: Bischof Jared M; Chiang Annie P; Scheetz Todd E; Stone Edwin M; Casavant Thomas L; Sheffield Val C; Braun Terry A
Genome-wide identification of pseudogenes capable of disease-causing gene conversion.
Human mutation 2006;27(6):545-52.
2006: Fingert John H; Eliason David A; Phillips Nicole C; Lotery Andrew J; Sheffield Val C; Stone Edwin M
Case of Stargardt disease caused by uniparental isodisomy.
Archives of ophthalmology 2006;124(5):744-5.
2006: Chiang Annie P; Beck John S; Yen Hsan-Jan; Tayeh Marwan K; Scheetz Todd E; Swiderski Ruth E; Nishimura Darryl Y; Braun Terry A; Kim Kwang-Youn A; Huang Jian; Elbedour Khalil; Carmi Rivka; Slusarski Diane C; Casavant Thomas L; Stone Edwin M; Sheffield Val C
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
Proceedings of the National Academy of Sciences of the United States of America 2006;103(16):6287-92.
2006: Yen Hsan-Jan; Tayeh Marwan K; Mullins Robert F; Stone Edwin M; Sheffield Val C; Slusarski Diane C
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.
Human molecular genetics 2006;15(5):667-77.
2006: Braun Terry A; Shankar Suma P; Davis Steve; O'Leary Brian; Scheetz Todd E; Clark Abbot F; Sheffield Val C; Casavant Thomas L; Stone Edwin M
Prioritizing regions of candidate genes for efficient mutation screening.
Human mutation 2006;27(2):195-200.
2005: Nishimura Darryl Y; Swiderski Ruth E; Searby Charles C; Berg Erik M; Ferguson Amanda L; Hennekam Raoul; Merin Saul; Weleber Richard G; Biesecker Leslie G; Stone Edwin M; Sheffield Val C
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
American journal of human genetics 2005;77(6):1021-33.
2005: Wang Kai; Sheffield Val C
A constrained-likelihood approach to marker-trait association studies.
American journal of human genetics 2005;77(5):768-80.
2005: Pinto Lawrence H; Vitaterna Martha H; Shimomura Kazuhiro; Siepka Sandra M; McDearmon Erin L; Fenner Deborah; Lumayag Stephen L; Omura Chiaki; Andrews Anne W; Baker Matthew; Invergo Brandon M; Olvera Marissa A; Heffron Edward; Mullins Robert F; Sheffield Val C; Stone Edwin M; Takahashi Joseph S
Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse.
Visual neuroscience 2005;22(5):619-29.
2005: Wassink Thomas H; Piven Joseph; Vieland Veronica J; Jenkins Laura; Frantz Rebecca; Bartlett Christopher W; Goedken Rhinda; Childress Deb; Spence M Anne; Smith Moyra; Sheffield Val C
Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;136B(1):36-44.
2005: Wassink Thomas H; Losh Molly; Frantz Rebecca S; Vieland Veronica J; Goedken Rhinda; Piven Joseph; Sheffield Val C
A case of autism and uniparental disomy of chromosome 1.
Human genetics 2005;117(2-3):200-6.
2005: Fath Melissa A; Mullins Robert F; Searby Charles; Nishimura Darryl Y; Wei Jun; Rahmouni Kamal; Davis Roger E; Tayeh Marwan K; Andrews Michael; Yang Baoli; Sigmund Curt D; Stone Edwin M; Sheffield Val C
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
Human molecular genetics 2005;14(9):1109-18.
2005: Ho B-C; Wassink T H; O'Leary D S; Sheffield V C; Andreasen N C
Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: working memory, frontal lobe MRI morphology and frontal cerebral blood flow.
Molecular psychiatry 2005;10(3):229, 287-98.
2005: Iannaccone Alessandro; Mykytyn Kirk; Persico Antonio M; Searby Charles C; Baldi Alfonso; Jablonski Monica M; Sheffield Val C
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene.
American journal of medical genetics. Part A 2005;132(4):343-6.
2005: Héon Elise; Westall Carol; Carmi Rivka; Elbedour Khalil; Panton Carole; Mackeen Leslie; Stone Edwin M; Sheffield Val C
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.
American journal of medical genetics. Part A 2005;132A(3):283-7.
2004: Pinto Lawrence H; Vitaterna Martha Hotz; Siepka Sanda M; Shimomura Kazuhiro; Lumayag Stephen; Baker Matthew; Fenner Deborah; Mullins Robert F; Sheffield Val C; Stone Edwin M; Heffron Edward; Takahashi Joseph S
Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.
Vision research 2004;44(28):3335-45.
2004: Nishimura Darryl Y; Fath Melissa; Mullins Robert F; Searby Charles; Andrews Michael; Davis Roger; Andorf Jeaneen L; Mykytyn Kirk; Swiderski Ruth E; Yang Baoli; Carmi Rivka; Stone Edwin M; Sheffield Val C
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(47):16588-93.
2004: Bonaldo Maria F; Bair Thomas B; Scheetz Todd E; Snir Einat; Akabogu Ike; Bair Jennifer L; Berger Brian; Crouch Keith; Davis Aja; Eyestone Mari E; Keppel Catherine; Kucaba Tamara A; Lebeck Mark; Lin Jenny L; de Melo Anna I R; Rehmann Joshua; Reiter Rebecca S; Schaefer Kelly; Smith Christina; Tack Dylan; Trout Kurtis; Sheffield Val C; Lin Jim J-C; Casavant Thomas L; Soares Marcelo B
1274 full-open reading frames of transcripts expressed in the developing mouse nervous system.
Genome research 2004;14(10B):2053-63.
2004: Wassink T H; Piven J; Vieland V J; Pietila J; Goedken R J; Folstein S E; Sheffield V C
Examination of AVPR1a as an autism susceptibility gene.
Molecular psychiatry 2004;9(10):968-72.
2004: Chiang Annie P; Nishimura Darryl; Searby Charles; Elbedour Khalil; Carmi Rivka; Ferguson Amanda L; Secrist Jenifer; Braun Terry; Casavant Thomas; Stone Edwin M; Sheffield Val C
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).
American journal of human genetics 2004;75(3):475-84.
2004: Jacobson Samuel G; Sumaroka Alexander; Aleman Tomas S; Cideciyan Artur V; Schwartz Sharon B; Roman Alejandro J; McInnes Roderick R; Sheffield Val C; Stone Edwin M; Swaroop Anand; Wright Alan F
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.
Human molecular genetics 2004;13(17):1893-902.
2004: Stone Edwin M; Braun Terry A; Russell Stephen R; Kuehn Markus H; Lotery Andrew J; Moore Paula A; Eastman Christopher G; Casavant Thomas L; Sheffield Val C
Missense variations in the fibulin 5 gene and age-related macular degeneration.
The New England journal of medicine 2004;351(4):346-53.
2004: Mykytyn Kirk; Mullins Robert F; Andrews Michael; Chiang Annie P; Swiderski Ruth E; Yang Baoli; Braun Terry; Casavant Thomas; Stone Edwin M; Sheffield Val C
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(23):8664-9.
2004: Sheffield Val C
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.
Pediatric research 2004;55(6):908-11.
2004: Kwitek Anne E; Gullings-Handley Jo; Yu Jiaming; Carlos Danilo C; Orlebeke Kimberly; Nie Jeff; Eckert Jeffrey; Lemke Angela; Andrae Jaime Wendt; Bromberg Susan; Pasko Dean; Chen Dan; Scheetz Todd E; Casavant Thomas L; Soares M Bento; Sheffield Val C; Tonellato Peter J; Jacob Howard J
High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence.
Genome research 2004;14(4):750-7.
2004: Laffin Jennifer J S; Scheetz Todd E; Bonaldo Maria de Fatima; Reiter Rebecca S; Chang Shereen; Eyestone Mari; Abdulkawy Hakeem; Brown Bartley; Roberts Chad; Tack Dylan; Kucaba Tamara; Lin Jim Jung-Ching; Sheffield Val C; Casavant Thomas L; Soares M Bento
A comprehensive nonredundant expressed sequence tag collection for the developing Rattus norvegicus heart.
Physiological genomics 2004;17(2):245-52.
2004: Mykytyn Kirk; Sheffield Val C
Establishing a connection between cilia and Bardet-Biedl Syndrome.
Trends in molecular medicine 2004;10(3):106-9.
2003: Alward Wallace L M; Kwon Young H; Kawase Kazuhide; Craig Jamie E; Hayreh Sohan S; Johnson A Tim; Khanna Cheryl L; Yamamoto Tetsuya; Mackey David A; Roos Benjamin R; Affatigato Louisa M; Sheffield Val C; Stone Edwin M
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.
American journal of ophthalmology 2003;136(5):904-10.
2003: Bomar Jamee M; Benke Paul J; Slattery Eric L; Puttagunta Radhika; Taylor Larry P; Seong Eunju; Nystuen Arne; Chen Weidong; Albin Roger L; Patel Paresh D; Kittles Rick A; Sheffield Val C; Burmeister Margit
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.
Nature genetics 2003;35(3):264-9.
2003: Scheetz Todd E; Trivedi Nishank; Roberts Chad A; Kucaba Tamara; Berger Brian; Robinson Natalie L; Birkett Clayton L; Gavin Allen J; O'Leary Brian; Braun Terry A; Bonaldo Maria F; Robinson John P; Sheffield Val C; Soares Marcelo B; Casavant Thomas L
ESTprep: preprocessing cDNA sequence reads.
Bioinformatics (Oxford, England) 2003;19(11):1318-24.
2003: Jacobson Samuel G; Cideciyan Artur V; Aleman Tomas S; Pianta Michael J; Sumaroka Alexander; Schwartz Sharon B; Smilko Elaine E; Milam Ann H; Sheffield Val C; Stone Edwin M
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
Human molecular genetics 2003;12(9):1073-8.
2003: Milam Ann H; Barakat Mark R; Gupta Nisha; Rose Linda; Aleman Tomas S; Pianta Michael J; Cideciyan Artur V; Sheffield Val C; Stone Edwin M; Jacobson Samuel G
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.
Ophthalmology 2003;110(3):549-58.
2003: Honkanen Robert A; Nishimura Darryl Y; Swiderski Ruth E; Bennett Steven R; Hong Sungpyo; Kwon Young H; Stone Edwin M; Sheffield Val C; Alward Wallace L M
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
American journal of ophthalmology 2003;135(3):368-75.
2003: Mykytyn Kirk; Nishimura Darryl Y; Searby Charles C; Beck Gretel; Bugge Kevin; Haines Heidi L; Cornier Alberto S; Cox Gerald F; Fulton Anne B; Carmi Rivka; Iannaccone Alessandro; Jacobson Samuel G; Weleber Richard G; Wright Alan F; Riise Ruth; Hennekam Raoul C M; Lüleci Güven; Berker-Karauzum Sibel; Biesecker Leslie G; Stone Edwin M; Sheffield Val C
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
American journal of human genetics 2003;72(2):429-37.
2002: Graul Thomas A; Kwon Young H; Zimmerman M Bridget; Kim Chang-Sik; Sheffield Val C; Stone Edwin M; Alward Wallace L M
A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation.
American journal of ophthalmology 2002;134(6):884-90.
2002: Fingert John H; Stone Edwin M; Sheffield Val C; Alward Wallace L M
Myocilin glaucoma.
Survey of ophthalmology 2002;47(6):547-61.
2002: Riise Ruth; Tornqvist Kristina; Wright Alan F; Mykytyn Kirk; Sheffield Val C
The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.
Archives of ophthalmology 2002;120(10):1364-7.
2002: Gavin A J; Scheetz T E; Roberts C A; O'Leary B; Braun T A; Sheffield V C; Soares M B; Robinson J P; Casavant T L
Pooled library tissue tags for EST-based gene discovery.
Bioinformatics (Oxford, England) 2002;18(9):1162-6.
2002: Alward Wallace L M; Kwon Young H; Khanna Cheryl L; Johnson A Tim; Hayreh Sohan S; Zimmerman M Bridget; Narkiewicz Joanna; Andorf Jeaneen L; Moore Paula A; Fingert John H; Sheffield Val C; Stone Edwin M
Variations in the myocilin gene in patients with open-angle glaucoma.
Archives of ophthalmology 2002;120(9):1189-97.
2002: Mykytyn Kirk; Nishimura Darryl Y; Searby Charles C; Shastri Mythreyi; Yen Hsan-jan; Beck John S; Braun Terry; Streb Luan M; Cornier Alberto S; Cox Gerald F; Fulton Anne B; Carmi Rivka; Lüleci Güven; Chandrasekharappa Settara C; Collins Francis S; Jacobson Samuel G; Heckenlively John R; Weleber Richard G; Stone Edwin M; Sheffield Val C
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Nature genetics 2002;31(4):435-8.
2002: Wassink Thomas H; Piven Joseph; Vieland Veronica J; Pietila Jennifer; Goedken Rhinda J; Folstein Susan E; Sheffield Val C
Evaluation of FOXP2 as an autism susceptibility gene.
American journal of medical genetics 2002;114(5):566-9.
2002: Neuhausen Susan L; Weizman Zvi; Camp Nicola J; Elbedour Khalil; Sheffield Val C; Zone John J; Carmi Rivka
HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease.
Human immunology 2002;63(6):502-7.
2002: Walder Roxanne Y; Landau Daniel; Meyer Peter; Shalev Hanna; Tsolia Maria; Borochowitz Zvi; Boettger Melanie Barbara; Beck Gretel E; Englehardt Richard K; Carmi Rivka; Sheffield Val C
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.
Nature genetics 2002;31(2):171-4.
2002: Green Glenn E; Scott Daryl A; McDonald Joshua M; Teagle Holly F B; Tomblin Bruce J; Spencer Linda J; Woodworth George G; Knutson John F; Gantz Bruce J; Sheffield Val C; Smith Richard J H
Performance of cochlear implant recipients with GJB2-related deafness.
American journal of medical genetics 2002;109(3):167-70.
2002: Jacobson Samuel G; Cideciyan Artur V; Bennett Jean; Kingsley Ronald M; Sheffield Val C; Stone Edwin M
Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy.
Archives of ophthalmology 2002;120(3):376-9.
2002: Borges Adriana Silva; Susanna Remo; Carani José Carlos Eudes; Betinjane Alberto J; Alward Wallace L; Stone Edwin M; Sheffield Val C; Nishimura Darryl Y
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
Journal of glaucoma 2002;11(1):51-6.
2002: Milam Ann H; Rose Linda; Cideciyan Artur V; Barakat Mark R; Tang Wai-Xing; Gupta Nisha; Aleman Tomas S; Wright Alan F; Stone Edwin M; Sheffield Val C; Jacobson Samuel G
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(1):473-8.
2001: Kawase C; Kawase K; Taniguchi T; Sugiyama K; Yamamoto T; Kitazawa Y; Alward W L; Stone E M; Nishimura D Y; Sheffield V C
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
Journal of glaucoma 2001;10(6):477-82.
2001: Shepard A R; Jacobson N; Fingert J H; Stone E M; Sheffield V C; Clark A F
Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells.
Investigative ophthalmology & visual science 2001;42(13):3173-81.
2001: Kwitek A E; Tonellato P J; Chen D; Gullings-Handley J; Cheng Y S; Twigger S; Scheetz T E; Casavant T L; Stoll M; Nobrega M A; Shiozawa M; Soares M B; Sheffield V C; Jacob H J
Automated construction of high-density comparative maps between rat, human, and mouse.
Genome research 2001;11(11):1935-43.
2001: Biswas S; Munier F L; Yardley J; Hart-Holden N; Perveen R; Cousin P; Sutphin J E; Noble B; Batterbury M; Kielty C; Hackett A; Bonshek R; Ridgway A; McLeod D; Sheffield V C; Stone E M; Schorderet D F; Black G C
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
Human molecular genetics 2001;10(21):2415-23.
2001: Stone E M; Sheffield V C; Hageman G S
Molecular genetics of age-related macular degeneration.
Human molecular genetics 2001;10(20):2285-92.
2001: Nurmi E L; Bradford Y; Chen Y; Hall J; Arnone B; Gardiner M B; Hutcheson H B; Gilbert J R; Pericak-Vance M A; Copeland-Yates S A; Michaelis R C; Wassink T H; Santangelo S L; Sheffield V C; Piven J; Folstein S E; Haines J L; Sutcliffe J S
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.
Genomics 2001;77(1-2):105-13.
2001: Bradford Y; Haines J; Hutcheson H; Gardiner M; Braun T; Sheffield V; Cassavant T; Huang W; Wang K; Vieland V; Folstein S; Santangelo S; Piven J
Incorporating language phenotypes strengthens evidence of linkage to autism.
American journal of medical genetics 2001;105(6):539-47.
2001: Wassink T H; Piven J; Vieland V J; Huang J; Swiderski R E; Pietila J; Braun T; Beck G; Folstein S E; Haines J L; Sheffield V C
Evidence supporting WNT2 as an autism susceptibility gene.
American journal of medical genetics 2001;105(5):406-13.
2001: Clark A F; Steely H T; Dickerson J E; English-Wright S; Stropki K; McCartney M D; Jacobson N; Shepard A R; Clark J I; Matsushima H; Peskind E R; Leverenz J B; Wilkinson C W; Swiderski R E; Fingert J H; Sheffield V C; Stone E M
Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues.
Investigative ophthalmology & visual science 2001;42(8):1769-80.
2001: Mykytyn K; Braun T; Carmi R; Haider N B; Searby C C; Shastri M; Beck G; Wright A F; Iannaccone A; Elbedour K; Riise R; Baldi A; Raas-Rothschild A; Gorman S W; Duhl D M; Jacobson S G; Casavant T; Stone E M; Sheffield V C
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Nature genetics 2001;28(2):188-91.
2001: Sheffield V C; Nishimura D; Stone E M
The molecular genetics of Bardet-Biedl syndrome.
Current opinion in genetics & development 2001;11(3):317-21.
2001: Guymer R H; Héon E; Lotery A J; Munier F L; Schorderet D F; Baird P N; McNeil R J; Haines H; Sheffield V C; Stone E M
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.
Archives of ophthalmology 2001;119(5):745-51.
2001: Clark A F; Kawase K; English-Wright S; Lane D; Steely H T; Yamamoto T; Kitazawa Y; Kwon Y H; Fingert J H; Swiderski R E; Mullins R F; Hageman G S; Alward W L; Sheffield V C; Stone E M
Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2001;15(7):1251-3.
2001: Webster A R; Héon E; Lotery A J; Vandenburgh K; Casavant T L; Oh K T; Beck G; Fishman G A; Lam B L; Levin A; Heckenlively J R; Jacobson S G; Weleber R G; Sheffield V C; Stone E M
An analysis of allelic variation in the ABCA4 gene.
Investigative ophthalmology & visual science 2001;42(6):1179-89.
2001: Campbell C; Cucci R A; Prasad S; Green G E; Edeal J B; Galer C E; Karniski L P; Sheffield V C; Smith R J
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Human mutation 2001;17(5):403-11.
2001: Wang W H; McNatt L G; Shepard A R; Jacobson N; Nishimura D Y; Stone E M; Sheffield V C; Clark A F
Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR.
Molecular vision 2001;7():89-94.
2001: Nishimura D Y; Searby C C; Carmi R; Elbedour K; Van Maldergem L; Fulton A B; Lam B L; Powell B R; Swiderski R E; Bugge K E; Haider N B; Kwitek-Black A E; Ying L; Duhl D M; Gorman S W; Heon E; Iannaccone A; Bonneau D; Biesecker L G; Jacobson S G; Stone E M; Sheffield V C
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Human molecular genetics 2001;10(8):865-74.
2001: Lotery A J; Jacobson S G; Fishman G A; Weleber R G; Fulton A B; Namperumalsamy P; Héon E; Levin A V; Grover S; Rosenow J R; Kopp K K; Sheffield V C; Stone E M
Mutations in the CRB1 gene cause Leber congenital amaurosis.
Archives of ophthalmology 2001;119(3):415-20.
2001: Scheetz T E; Raymond M R; Nishimura D Y; McClain A; Roberts C; Birkett C; Gardiner J; Zhang J; Butters N; Sun C; Kwitek-Black A; Jacob H; Casavant T L; Soares M B; Sheffield V C
Generation of a high-density rat EST map.
Genome research 2001;11(3):497-502.
2001: Nishimura D Y; Searby C C; Alward W L; Walton D; Craig J E; Mackey D A; Kawase K; Kanis A B; Patil S R; Stone E M; Sheffield V C
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
American journal of human genetics 2001;68(2):364-72.
2001: Jacobson N; Andrews M; Shepard A R; Nishimura D; Searby C; Fingert J H; Hageman G; Mullins R; Davidson B L; Kwon Y H; Alward W L; Stone E M; Clark A F; Sheffield V C
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.
Human molecular genetics 2001;10(2):117-25.
2001: Fingert J H; Clark A F; Craig J E; Alward W L; Snibson G R; McLaughlin M; Tuttle L; Mackey D A; Sheffield V C; Stone E M
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.
Investigative ophthalmology & visual science 2001;42(1):145-52.
2000: Swiderski R E; Ross J L; Fingert J H; Clark A F; Alward W L; Stone E M; Sheffield V C
Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization.
Investigative ophthalmology & visual science 2000;41(11):3420-8.
2000: Slavotinek A M; Stone E M; Mykytyn K; Heckenlively J R; Green J S; Heon E; Musarella M A; Parfrey P S; Sheffield V C; Biesecker L G
Mutations in MKKS cause Bardet-Biedl syndrome.
Nature genetics 2000;26(1):15-6.
2000: Scott D A; Wang R; Kreman T M; Andrews M; McDonald J M; Bishop J R; Smith R J; Karniski L P; Sheffield V C
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
Human molecular genetics 2000;9(11):1709-15.
2000: Lotery A J; Munier F L; Fishman G A; Weleber R G; Jacobson S G; Affatigato L M; Nichols B E; Schorderet D F; Sheffield V C; Stone E M
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
Investigative ophthalmology & visual science 2000;41(6):1291-6.
2000: Scott D A; Drury S; Sundstrom R A; Bishop J; Swiderski R E; Carmi R; Ramesh A; Elbedour K; Srikumari Srisailapathy C R; Keats B J; Sheffield V C; Smith R J
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.
Gene 2000;246(1-2):265-74.
2000: Lotery A J; Namperumalsamy P; Jacobson S G; Weleber R G; Fishman G A; Musarella M A; Hoyt C S; Héon E; Levin A; Jan J; Lam B; Carr R E; Franklin A; Radha S; Andorf J L; Sheffield V C; Stone E M
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Archives of ophthalmology 2000;118(4):538-43.
2000: Haider N B; Jacobson S G; Cideciyan A V; Swiderski R; Streb L M; Searby C; Beck G; Hockey R; Hanna D B; Gorman S; Duhl D; Carmi R; Bennett J; Weleber R G; Fishman G A; Wright A F; Stone E M; Sheffield V C
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
Nature genetics 2000;24(2):127-31.
2000: Scott D A; Sheffield V C
DFNB11.
Advances in oto-rhino-laryngology 2000;56():168-70.
1999: Kanis A B; Al-Rajhi A A; Taylor C M; Mathers W D; Folberg R Y; Nishimura D Y; Sheffield V C; Stone E M
Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci.
Ophthalmic genetics 1999;20(4):243-9.
1999: Mellott M L; Brown J; Fingert J H; Taylor C M; Keech R V; Sheffield V C; Stone E M
Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.
Archives of ophthalmology 1999;117(12):1630-3.
1999: Barrett S; Beck J C; Bernier R; Bisson E; Braun T A; Casavant T L; Childress D; Folstein S E; Garcia M; Gardiner M B; Gilman S; Haines J L; Hopkins K; Landa R; Meyer N H; Mullane J A; Nishimura D Y; Palmer P; Piven J; Purdy J; Santangelo S L; Searby C; Sheffield V; Singleton J; Slager S
An autosomal genomic screen for autism. Collaborative linkage study of autism.
American journal of medical genetics 1999;88(6):609-15.
1999: Ying L; Katz Y; Schlesinger M; Carmi R; Shalev H; Haider N; Beck G; Sheffield V C; Landau D
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.
American journal of human genetics 1999;65(6):1538-46.
1999: Haider N B; Searby C; Galperin E; Mintz L; Horowitz M; Stone E M; Sheffield V C
Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1).
Gene 1999;240(1):227-32.
1999: Swiderski R E; Reiter R S; Nishimura D Y; Alward W L; Kalenak J W; Searby C S; Stone E M; Sheffield V C; Lin J J
Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects.
Developmental dynamics : an official publication of the American Association of Anatomists 1999;216(1):16-27.
1999: Gorman S W; Haider N B; Grieshammer U; Swiderski R E; Kim E; Welch J W; Searby C; Leng S; Carmi R; Sheffield V C; Duhl D M
The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.
Genomics 1999;59(2):150-60.
1999: Ellsworth R E; Ionasescu V; Searby C; Sheffield V C; Braden V V; Kucaba T A; McPherson J D; Marra M A; Green E D
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.
Genome research 1999;9(6):568-74.
1999: Green G E; Scott D A; McDonald J M; Woodworth G G; Sheffield V C; Smith R J
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
JAMA : the journal of the American Medical Association 1999;281(23):2211-6.
1999: Stone E M; Lotery A J; Munier F L; Héon E; Piguet B; Guymer R H; Vandenburgh K; Cousin P; Nishimura D; Swiderski R E; Silvestri G; Mackey D A; Hageman G S; Bird A C; Sheffield V C; Schorderet D F
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
Nature genetics 1999;22(2):199-202.
1999: Swiderski R E; Ying L; Cassell M D; Alward W L; Stone E M; Sheffield V C
Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.
Brain research. Molecular brain research 1999;68(1-2):64-72.
1999: Fingert J H; Héon E; Liebmann J M; Yamamoto T; Craig J E; Rait J; Kawase K; Hoh S T; Buys Y M; Dickinson J; Hockey R R; Williams-Lyn D; Trope G; Kitazawa Y; Ritch R; Mackey D A; Alward W L; Sheffield V C; Stone E M
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Human molecular genetics 1999;8(5):899-905.
1999: Scott D A; Wang R; Kreman T M; Sheffield V C; Karniski L P
The Pendred syndrome gene encodes a chloride-iodide transport protein.
Nature genetics 1999;21(4):440-3.
1998: Walder R Y; Garrett M R; McClain A M; Beck G E; Brennan T M; Kramer N A; Kanis A B; Mark A L; Rapp J P; Sheffield V C
Short tandem repeat polymorphic markers for the rat genome from marker-selected libraries.
Mammalian genome : official journal of the International Mammalian Genome Society 1998;9(12):1013-21.
1998: Stone E M; Webster A R; Vandenburgh K; Streb L M; Hockey R R; Lotery A J; Sheffield V C
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration.
Nature genetics 1998;20(4):328-9.
1998: Haider N B; Carmi R; Shalev H; Sheffield V C; Landau D
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.
American journal of human genetics 1998;63(5):1404-10.
1998: Heaney C; Shalev H; Elbedour K; Carmi R; Staack J B; Sheffield V C; Beier D R
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.
Human molecular genetics 1998;7(9):1407-10.
1998: Scott D A; Greinwald J H; Marietta J R; Drury S; Swiderski R E; Viñas A; DeAngelis M M; Carmi R; Ramesh A; Kraft M L; Elbedour K; Skworak A B; Friedman R A; Srikumari Srisailapathy C R; Verhoeven K; Van Gamp G; Lovett M; Deininger P L; Batzer M A; Morton C C; Keats B J; Smith R J; Sheffield V C
Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.
Gene 1998;215(2):461-9.
1998: Nishimura D Y; Swiderski R E; Alward W L; Searby C C; Patil S R; Bennet S R; Kanis A B; Gastier J M; Stone E M; Sheffield V C
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
Nature genetics 1998;19(2):140-7.
1998: Fingert J H; Ying L; Swiderski R E; Nystuen A M; Arbour N C; Alward W L; Sheffield V C; Stone E M
Characterization and comparison of the human and mouse GLC1A glaucoma genes.
Genome research 1998;8(4):377-84.
1998: Alward W L; Fingert J H; Coote M A; Johnson A T; Lerner S F; Junqua D; Durcan F J; McCartney P J; Mackey D A; Sheffield V C; Stone E M
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
The New England journal of medicine 1998;338(15):1022-7.
1998: Brennan T M; Landau D; Shalev H; Lamb F; Schutte B C; Walder R Y; Mark A L; Carmi R; Sheffield V C
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.
American journal of human genetics 1998;62(2):355-61.
1998: Scott D A; Kraft M L; Stone E M; Sheffield V C; Smith R J
Connexin mutations and hearing loss.
Nature 1998;391(6662):32.
1998: Carmi R; Elbedour K; Wietzman D; Sheffield V; Shoham-Vardi I
Lowering the burden of hereditary diseases in a traditional, inbred community: ethical aspects of genetic research and its application.
Science in context 1998;11(3-4):391-95.
1998: Scott D A; Kraft M L; Carmi R; Ramesh A; Elbedour K; Yairi Y; Srisailapathy C R; Rosengren S S; Markham A F; Mueller R F; Lench N J; Van Camp G; Smith R J; Sheffield V C
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
Human mutation 1998;11(5):387-94.
1997: Everett L A; Glaser B; Beck J C; Idol J R; Buchs A; Heyman M; Adawi F; Hazani E; Nassir E; Baxevanis A D; Sheffield V C; Green E D
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
Nature genetics 1997;17(4):411-22.
1997: Bonné-Tamir B; Nystuen A; Seroussi E; Kalinsky H; Kwitek-Black A E; Korostishevsky M; Adato A; Sheffield V C
Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders.
American journal of physical anthropology 1997;104(2):193-200.
1997: Greinwald J H; Scott D A; Marietta J R; Carmi R; Manaligod J; Ramesh A; Zbar R I; Kraft M L; Elbedour K; Yairi Y; Musy M; Skvorak A B; Van Camp G; Srisailapathy C R; Lovett M; Morton C C; Sheffield V C; Smith R J
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.
Genome research 1997;7(9):879-86.
1997: Chen A; Wayne S; Bell A; Ramesh A; Srisailapathy C R; Scott D A; Sheffield V C; Van Hauwe P; Zbar R I; Ashley J; Lovett M; Van Camp G; Smith R J
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.
American journal of medical genetics 1997;71(4):467-71.
1997: Walder R Y; Shalev H; Brennan T M; Carmi R; Elbedour K; Scott D A; Hanauer A; Mark A L; Patil S; Stone E M; Sheffield V C
Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.
Human molecular genetics 1997;6(9):1491-7.
1997: Arbour N C; Zlotogora J; Knowlton R G; Merin S; Rosenmann A; Kanis A B; Rokhlina T; Stone E M; Sheffield V C
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.
Human molecular genetics 1997;6(5):689-94.
1997: Nystuen A; Costeff H; Elpeleg O N; Apter N; Bonné-Tamir B; Mohrenweiser H; Haider N; Stone E M; Sheffield V C
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene.
Human molecular genetics 1997;6(4):563-9.
1997: Brown J; Fingert J H; Taylor C M; Lake M; Sheffield V C; Stone E M
Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)
Archives of ophthalmology 1997;115(1):95-9.
1997: Stone E M; Fingert J H; Alward W L; Nguyen T D; Polansky J R; Sunden S L; Nishimura D; Clark A F; Nystuen A; Nichols B E; Mackey D A; Ritch R; Kalenak J W; Craven E R; Sheffield V C
Identification of a gene that causes primary open angle glaucoma.
Science (New York, N.Y.) 1997;275(5300):668-70.
1997: Sheffield V C; Pierpont M E; Nishimura D; Beck J S; Burns T L; Berg M A; Stone E M; Patil S R; Lauer R M
Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.
Human molecular genetics 1997;6(1):117-21.
1996: Piguet B; Héon E; Munier F L; Grounauer P A; Niemeyer G; Butler N; Schorderet D F; Sheffield V C; Stone E M
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.
Ophthalmic genetics 1996;17(4):175-86.
1996: Wayne S; Der Kaloustian V M; Schloss M; Polomeno R; Scott D A; Hejtmancik J F; Sheffield V C; Smith R J
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.
Human molecular genetics 1996;5(10):1689-92.
1996: Sunden S L; Alward W L; Nichols B E; Rokhlina T R; Nystuen A; Stone E M; Sheffield V C
Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes.
Genome research 1996;6(9):862-9.
1996: Ionasescu V; Searby C; Sheffield V C; Roklina T; Nishimura D; Ionasescu R
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).
Human molecular genetics 1996;5(9):1373-5.
1996: Alward W L; Johnson A T; Nishimura D Y; Sheffield V C; Stone E M
Molecular genetics of glaucoma: current status.
Journal of glaucoma 1996;5(4):276-84.
1996: Scott D A; Carmi R; Elbedour K; Yosefsberg S; Stone E M; Sheffield V C
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.
American journal of human genetics 1996;59(2):385-91.
1996: O'Neill M E; Marietta J; Nishimura D; Wayne S; Van Camp G; Van Laer L; Negrini C; Wilcox E R; Chen A; Fukushima K; Ni L; Sheffield V C; Smith R J
A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.
Human molecular genetics 1996;5(6):853-6.
1996: Nystuen A; Benke P J; Merren J; Stone E M; Sheffield V C
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands.
Human molecular genetics 1996;5(4):525-31.
1996: Sheffield V C; Kraiem Z; Beck J C; Nishimura D; Stone E M; Salameh M; Sadeh O; Glaser B
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.
Nature genetics 1996;12(4):424-6.
1996: Gastier J M; Brody T; Pulido J C; Businga T; Sunden S; Hu X; Maitra S; Buetow K H; Murray J C; Sheffield V C; Boguski M; Duyk G M; Hudson T J
Development of a screening set for new (CAG/CTG)n dynamic mutations.
Genomics 1996;32(1):75-85.
1996: Sunden S L; Businga T; Beck J; McClain A; Gastier J M; Pulido J C; Yandava C N; Brody T; Ghazizadeh J; Weber J L; Duyk G M; Murray J C; Buetow K H; Sheffield V C
Chromosomal assignment of 2900 tri- and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2.
Genomics 1996;32(1):15-20.
1996: Héon E; Piguet B; Munier F; Sneed S R; Morgan C M; Forni S; Pescia G; Schorderet D; Taylor C M; Streb L M; Wiles C D; Nishimura D Y; Sheffield V C; Stone E M
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.
Archives of ophthalmology 1996;114(2):193-8.
1995: Carmi R; Elbedour K; Stone E M; Sheffield V C
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.
American journal of medical genetics 1995;59(2):199-203.
1995: Zittergruen M M; Murray J C; Lauer R M; Burns T L; Sheffield V C
Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects.
Circulation 1995;92(10):2803-10.
1995: Sheffield V C; Weber J L; Buetow K H; Murray J C; Even D A; Wiles K; Gastier J M; Pulido J C; Yandava C; Sunden S L
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps.
Human molecular genetics 1995;4(10):1837-44.
1995: Gastier J M; Pulido J C; Sunden S; Brody T; Buetow K H; Murray J C; Weber J L; Hudson T J; Sheffield V C; Duyk G M
Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers.
Human molecular genetics 1995;4(10):1829-36.
1995: Scott D A; Carmi R; Elbedour K; Duyk G M; Stone E M; Sheffield V C
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel.
American journal of human genetics 1995;57(4):965-8.
1995: Terrell R B; Wille A H; Cheville J C; Nystuen A M; Cohen M B; Sheffield V C
Microsatellite instability in adenocarcinoma of the prostate.
The American journal of pathology 1995;147(3):799-805.
1995: Héon E; Sheth B P; Kalenak J W; Sunden S L; Streb L M; Taylor C M; Alward W L; Sheffield V C; Stone E M
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
Human molecular genetics 1995;4(8):1435-9.
1995: Sheffield V C; Nishimura D Y; Stone E M
Novel approaches to linkage mapping.
Current opinion in genetics & development 1995;5(3):335-41.
1995: Vanagaite L; James M R; Rotman G; Savitsky K; Bar-Shira A; Gilad S; Ziv Y; Uchenik V; Sartiel A; Collins F S; Sheffield V C; Richard C W; Weissenbach J; Shiloh Y
A high-density microsatellite map of the ataxia-telangiectasia locus.
Human genetics 1995;95(4):451-4.
1995: Héon E; Mathers W D; Alward W L; Weisenthal R W; Sunden S L; Fishbaugh J A; Taylor C M; Krachmer J H; Sheffield V C; Stone E M
Linkage of posterior polymorphous corneal dystrophy to 20q11.
Human molecular genetics 1995;4(3):485-8.
1995: Willert J R; Daneshvar L; Sheffield V C; Cogen P H
Deletion of chromosome arm 17p DNA sequences in pediatric high-grade and juvenile pilocytic astrocytomas.
Genes, chromosomes & cancer 1995;12(3):165-72.
1995: Carmi R; Rokhlina T; Kwitek-Black A E; Elbedour K; Nishimura D; Stone E M; Sheffield V C
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.
Human molecular genetics 1995;4(1):9-13.
1995: Brown D M; Vandenburgh K; Kimura A E; Weingeist T A; Sheffield V C; Stone E M
Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy).
Human molecular genetics 1995;4(1):141-2.
1994: Buetow K H; Ludwigsen S; Scherpbier-Heddema T; Quillen J; Murray J C; Sheffield V C; Duyk G M; Weber J L; Weissenbach J; Gyapay G
Human genetic map. Genome maps V. Wall chart.
Science (New York, N.Y.) 1994;265(5181):2055-70.
1994: Murray J C; Buetow K H; Weber J L; Ludwigsen S; Scherpbier-Heddema T; Manion F; Quillen J; Sheffield V C; Sunden S; Duyk G M
A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC).
Science (New York, N.Y.) 1994;265(5181):2049-54.
1994: Folberg R; Stone E M; Sheffield V C; Mathers W D
The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study.
Archives of ophthalmology 1994;112(8):1080-5.
1994: Sheffield V C; Carmi R; Kwitek-Black A; Rokhlina T; Nishimura D; Duyk G M; Elbedour K; Sunden S L; Stone E M
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.
Human molecular genetics 1994;3(8):1331-5.
1994: Stone E M; Nichols B E; Kimura A E; Weingeist T A; Drack A; Sheffield V C
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q.
Archives of ophthalmology 1994;112(6):765-72.
1994: Buetow K H; Weber J L; Ludwigsen S; Scherpbier-Heddema T; Duyk G M; Sheffield V C; Wang Z; Murray J C
Integrated human genome-wide maps constructed using the CEPH reference panel.
Nature genetics 1994;6(4):391-3.
1994: Cousineau A J; Lauer R M; Pierpont M E; Burns T L; Ardinger R H; Patil S R; Sheffield V C
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21.
Human genetics 1994;93(2):103-8.
1994: Nichols B E; Bascom R; Litt M; McInnes R; Sheffield V C; Stone E M
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.
American journal of human genetics 1994;54(1):95-103.
1993: Kwitek-Black A E; Carmi R; Duyk G M; Buetow K H; Elbedour K; Parvari R; Yandava C N; Stone E M; Sheffield V C
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.
Nature genetics 1993;5(4):392-6.
1993: Nichols B E; Sheffield V C; Stone E M
A user-friendly Hypercard interface for human linkage analysis.
Computer applications in the biosciences : CABIOS 1993;9(6):757-9.
1993: Ibraghimov-Beskrovnaya O; Sheffield V C; Campbell K P
Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR.
Human molecular genetics 1993;2(11):1983.
1993: Nichols B E; Drack A V; Vandenburgh K; Kimura A E; Sheffield V C; Stone E M
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.
Human molecular genetics 1993;2(8):1347.
1993: Sheffield V C; Stone E M; Alward W L; Drack A V; Johnson A T; Streb L M; Nichols B E
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.
Nature genetics 1993;4(1):47-50.
1993: Sheffield V C; Beck J S; Kwitek A E; Sandstrom D W; Stone E M
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions.
Genomics 1993;16(2):325-32.
1993: Nichols B E; Drack A V; Vandenburgh K; Kimura A E; Sheffield V C; Stone E M
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.
Human molecular genetics 1993;2(5):601-3.
1993: Nichols B E; Sheffield V C; Vandenburgh K; Drack A V; Kimura A E; Stone E M
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.
Nature genetics 1993;3(3):202-7.
1993: Beck J S; Kwitek A E; Cogen P H; Metzger A K; Duyk G M; Sheffield V C
A denaturing gradient gel electrophoresis assay for sensitive detection of p53 mutations.
Human genetics 1993;91(1):25-30.
1992: Stone E M; Kimura A E; Folk J C; Bennett S R; Nichols B E; Streb L M; Sheffield V C
Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.
Human molecular genetics 1992;1(9):685-9.
1992: Brown D M; Nichols B E; Weingeist T A; Sheffield V C; Kimura A E; Stone E M
Procollagen II gene mutation in Stickler syndrome.
Archives of ophthalmology 1992;110(11):1589-93.
1992: Freneaux E; Sheffield V C; Molin L; Shires A; Rhead W J
Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.
The Journal of clinical investigation 1992;90(5):1679-86.
1992: Buetow K H; Sheffield V C; Zhu M; Zhou T; Shen F M; Hino O; Smith M; McMahon B J; Lanier A P; London W T
Low frequency of p53 mutations observed in a diverse collection of primary hepatocellular carcinomas.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(20):9622-6.
1992: Stone E M; Nichols B E; Streb L M; Kimura A E; Sheffield V C
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.
Nature genetics 1992;1(4):246-50.
1992: Sheffield V C; Beck J S; Nichols B; Cousineau A; Lidral A C; Stone E M
Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis.
American journal of human genetics 1992;50(3):567-75.
1992: Cogen P H; Daneshvar L; Metzger A K; Duyk G; Edwards M S; Sheffield V C
Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis.
American journal of human genetics 1992;50(3):584-9.
1991: Stone E M; Kimura A E; Nichols B E; Khadivi P; Fishman G A; Sheffield V C
Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.
Ophthalmology 1991;98(12):1806-13.
1991: Sheffield V C; Fishman G A; Beck J S; Kimura A E; Stone E M
Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.
American journal of human genetics 1991;49(4):699-706.
1991: Metzger A K; Sheffield V C; Duyk G; Daneshvar L; Edwards M S; Cogen P H
Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(17):7825-9.
1989: Sheffield V C; Cox D R; Lerman L S; Myers R M
Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(1):232-6.

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