Val C. Sheffield - Publications

Neuroscience University of Iowa, Iowa City, IA 
 University of Illinois at Chicago, Chicago, IL, United States 
Neuroscience Biology, Medicine and Surgery, Human Development

249 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Giacalone JC, Andorf JL, Zhang Q, Burnight E, Ochoa D, Reutzel AJ, Collins MM, Sheffield V, Mullins RF, Han IC, Stone E, Tucker BA. Development of a Molecularly Stable Gene Therapy Vector for the Treatment of RPGR-associated X-linked Retinitis Pigmentosa. Human Gene Therapy. PMID 31106594 DOI: 10.1089/hum.2018.244  0.44
2019 Zhang Q, Giacalone JC, Searby C, Stone EM, Tucker BA, Sheffield VC. Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP. Proceedings of the National Academy of Sciences of the United States of America. PMID 30622176 DOI: 10.1073/pnas.1817639116  0.44
2018 Weihbrecht K, Goar WA, Carter CS, Sheffield VC, Seo S. Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model. Plos One. 13: e0192755. PMID 29444170 DOI: 10.1371/journal.pone.0192755  0.4
2017 Weihbrecht K, Goar WA, Pak T, Garrison JE, DeLuca AP, Stone EM, Scheetz TE, Sheffield VC. Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. Medical Research Archives. 5. PMID 29457131  0.44
2017 Hsu Y, Garrison JE, Kim G, Schmitz AR, Searby CC, Zhang Q, Datta P, Nishimura DY, Seo S, Sheffield VC. BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. Plos Genetics. 13: e1007057. PMID 29049287 DOI: 10.1371/journal.pgen.1007057  0.4
2017 Scott CA, Marsden AN, Rebagliati MR, Zhang Q, Chamling X, Searby CC, Baye LM, Sheffield VC, Slusarski DC. Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. Plos Genetics. 13: e1006936. PMID 28753627 DOI: 10.1371/journal.pgen.1006936  0.44
2017 Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. PMID 28559085 DOI: 10.1016/j.ophtha.2017.04.008  0.44
2016 Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Human Molecular Genetics. PMID 27008867 DOI: 10.1093/hmg/ddw096  0.44
2015 Zode GS, Kuehn MH, Nishimura DY, Searby CC, Mohan K, Grozdanic SD, Bugge K, Anderson MG, Clark AF, Stone EM, Sheffield VC. Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. The Journal of Clinical Investigation. 125: 3303. PMID 26237042 DOI: 10.1172/JCI82799  0.44
2015 Datta P, Allamargot C, Hudson JS, Andersen EK, Bhattarai S, Drack AV, Sheffield VC, Seo S. Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. Proceedings of the National Academy of Sciences of the United States of America. 112: E4400-9. PMID 26216965 DOI: 10.1073/pnas.1510111112  0.4
2015 Starks RD, Beyer AM, Guo DF, Boland L, Zhang Q, Sheffield VC, Rahmouni K. Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins. Plos Genetics. 11: e1005311. PMID 26103456 DOI: 10.1371/journal.pgen.1005311  0.8
2015 Goodman CW, Major HJ, Walls WD, Sheffield VC, Casavant TL, Darbro BW. CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays. Journal of Biomedical Informatics. 54: 106-13. PMID 25595567 DOI: 10.1016/j.jbi.2015.01.001  0.8
2014 Mei X, Westfall TA, Zhang Q, Sheffield VC, Bassuk AG, Slusarski DC. Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms. Developmental Biology. 392: 245-55. PMID 24938409 DOI: 10.1016/j.ydbio.2014.05.020  0.8
2014 Agassandian K, Patel M, Agassandian M, Steren KE, Rahmouni K, Sheffield VC, Card JP. Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model. Plos One. 9: e93484. PMID 24695551 DOI: 10.1371/journal.pone.0093484  0.8
2014 Zode GS, Sharma AB, Lin X, Searby CC, Bugge K, Kim GH, Clark AF, Sheffield VC. Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma. The Journal of Clinical Investigation. 124: 1956-65. PMID 24691439 DOI: 10.1172/JCI69774  0.8
2014 Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, ... ... Sheffield VC, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/gb-2014-15-3-r53  0.44
2014 Chamling X, Seo S, Searby CC, Kim G, Slusarski DC, Sheffield VC. The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. Plos Genetics. 10: e1004083. PMID 24550735 DOI: 10.1371/journal.pgen.1004083  0.8
2014 Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC. BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Human Molecular Genetics. 23: 40-51. PMID 23943788 DOI: 10.1093/hmg/ddt394  0.8
2013 Stone EM, Aldave AJ, Drack AV, MacCumber MW, Sheffield VC, Traboulsi E, Weleber RG. Author reply: To PMID 22944025. Ophthalmology. 120: e73. PMID 24090960 DOI: 10.1016/j.ophtha.2013.07.008  0.8
2013 Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R. Congenital myopathy is caused by mutation of HACD1. Human Molecular Genetics. 22: 5229-36. PMID 23933735 DOI: 10.1093/hmg/ddt380  0.8
2013 Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, Sheffield VC, Tucker BA, Stone EM. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Human Molecular Genetics. 22: 5136-45. PMID 23918662 DOI: 10.1093/hmg/ddt367  0.8
2013 Zhang Q, Nishimura D, Vogel T, Shao J, Swiderski R, Yin T, Searby C, Carter CS, Kim G, Bugge K, Stone EM, Sheffield VC. BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. Journal of Cell Science. 126: 2372-80. PMID 23572516 DOI: 10.1242/jcs.111740  0.8
2013 Chamling X, Seo S, Bugge K, Searby C, Guo DF, Drack AV, Rahmouni K, Sheffield VC. Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. Plos One. 8: e59101. PMID 23554981 DOI: 10.1371/journal.pone.0059101  0.8
2013 Scheetz TE, Fingert JH, Wang K, Kuehn MH, Knudtson KL, Alward WL, Boldt HC, Russell SR, Folk JC, Casavant TL, Braun TA, Clark AF, Stone EM, Sheffield VC. A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci. Plos One. 8: e58657. PMID 23536807 DOI: 10.1371/journal.pone.0058657  0.8
2012 Carter CS, Vogel TW, Zhang Q, Seo S, Swiderski RE, Moninger TO, Cassell MD, Thedens DR, Keppler-Noreuil KM, Nopoulos P, Nishimura DY, Searby CC, Bugge K, Sheffield VC. Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. Nature Medicine. 18: 1797-804. PMID 23160237 DOI: 10.1038/nm.2996  0.8
2012 Humbert MC, Weihbrecht K, Searby CC, Li Y, Pope RM, Sheffield VC, Seo S. ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proceedings of the National Academy of Sciences of the United States of America. 109: 19691-6. PMID 23150559 DOI: 10.1073/pnas.1210916109  0.8
2012 Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM. Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. Plos Genetics. 8: e1003001. PMID 23055945 DOI: 10.1371/journal.pgen.1003001  0.8
2012 Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 119: 2408-10. PMID 22944025 DOI: 10.1016/j.ophtha.2012.05.047  0.8
2012 Cox KF, Kerr NC, Kedrov M, Nishimura D, Jennings BJ, Stone EM, Sheffield VC, Iannaccone A. Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. Vision Research. 75: 77-87. PMID 22940089 DOI: 10.1016/j.visres.2012.08.005  0.8
2012 Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, ... ... Sheffield VC, et al. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Human Molecular Genetics. 21: 4781-92. PMID 22843504 DOI: 10.1093/hmg/dds301  0.8
2012 Zhang Q, Yu D, Seo S, Stone EM, Sheffield VC. Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. The Journal of Biological Chemistry. 287: 20625-35. PMID 22500027 DOI: 10.1074/jbc.M112.341487  0.8
2012 Zode GS, Bugge KE, Mohan K, Grozdanic SD, Peters JC, Koehn DR, Anderson MG, Kardon RH, Stone EM, Sheffield VC. Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma. Investigative Ophthalmology & Visual Science. 53: 1557-65. PMID 22328638 DOI: 10.1167/iovs.11-8837  0.8
2012 Zhang Q, Seo S, Bugge K, Stone EM, Sheffield VC. BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Human Molecular Genetics. 21: 1945-53. PMID 22228099 DOI: 10.1093/hmg/dds004  0.8
2012 Meyer KJ, Axelsen MS, Sheffield VC, Patil SR, Wassink TH. Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism. Psychiatric Genetics. 22: 137-40. PMID 22157634 DOI: 10.1097/YPG.0b013e32834dc3f5  0.8
2012 Drack AV, Dumitrescu AV, Bhattarai S, Gratie D, Stone EM, Mullins R, Sheffield VC. TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. Investigative Ophthalmology & Visual Science. 53: 100-6. PMID 22110077 DOI: 10.1167/iovs.11-8544  0.8
2011 Zhang Q, Nishimura D, Seo S, Vogel T, Morgan DA, Searby C, Bugge K, Stone EM, Rahmouni K, Sheffield VC. Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proceedings of the National Academy of Sciences of the United States of America. 108: 20678-83. PMID 22139371 DOI: 10.1073/pnas.1113220108  0.8
2011 Wright KJ, Baye LM, Olivier-Mason A, Mukhopadhyay S, Sang L, Kwong M, Wang W, Pretorius PR, Sheffield VC, Sengupta P, Slusarski DC, Jackson PK. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes & Development. 25: 2347-60. PMID 22085962 DOI: 10.1101/gad.173443.111  0.8
2011 Seo S, Zhang Q, Bugge K, Breslow DK, Searby CC, Nachury MV, Sheffield VC. A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. Plos Genetics. 7: e1002358. PMID 22072986 DOI: 10.1371/journal.pgen.1002358  0.8
2011 Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proceedings of the National Academy of Sciences of the United States of America. 108: E569-76. PMID 21825139 DOI: 10.1073/pnas.1108918108  0.8
2011 Zode GS, Kuehn MH, Nishimura DY, Searby CC, Mohan K, Grozdanic SD, Bugge K, Anderson MG, Clark AF, Stone EM, Sheffield VC. Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. The Journal of Clinical Investigation. 121: 3542-53. PMID 21821918 DOI: 10.1172/JCI58183  0.8
2011 Sheffield VC, Stone EM. Genomics and the eye. The New England Journal of Medicine. 364: 1932-42. PMID 21591945 DOI: 10.1056/NEJMra1012354  0.8
2011 Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, ... ... Sheffield VC, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 145: 513-28. PMID 21565611 DOI: 10.1016/j.cell.2011.04.019  0.8
2011 Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. American Journal of Human Genetics. 88: 599-607. PMID 21496787 DOI: 10.1016/j.ajhg.2011.03.018  0.8
2011 Fingert JH, Robin AL, Stone JL, Roos BR, Davis LK, Scheetz TE, Bennett SR, Wassink TH, Kwon YH, Alward WL, Mullins RF, Sheffield VC, Stone EM. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Human Molecular Genetics. 20: 2482-94. PMID 21447600 DOI: 10.1093/hmg/ddr123  0.8
2011 Davis LK, Meyer KJ, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Sheffield VC, et al. Copy number variations and primary open-angle glaucoma. Investigative Ophthalmology & Visual Science. 52: 7122-33. PMID 21310917 DOI: 10.1167/iovs.10-5606  0.8
2011 Pretorius PR, Aldahmesh MA, Alkuraya FS, Sheffield VC, Slusarski DC. Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Human Molecular Genetics. 20: 1625-32. PMID 21282186 DOI: 10.1093/hmg/ddr039  0.8
2011 Westlake CJ, Baye LM, Nachury MV, Wright KJ, Ervin KE, Phu L, Chalouni C, Beck JS, Kirkpatrick DS, Slusarski DC, Sheffield VC, Scheller RH, Jackson PK. Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome. Proceedings of the National Academy of Sciences of the United States of America. 108: 2759-64. PMID 21273506 DOI: 10.1073/pnas.1018823108  0.8
2011 Baye LM, Patrinostro X, Swaminathan S, Beck JS, Zhang Y, Stone EM, Sheffield VC, Slusarski DC. The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Human Molecular Genetics. 20: 1467-77. PMID 21257638 DOI: 10.1093/hmg/ddr025  0.8
2011 Stone EM, Cideciyan AV, Aleman TS, Scheetz TE, Sumaroka A, Ehlinger MA, Schwartz SB, Fishman GA, Traboulsi EI, Lam BL, Fulton AB, Mullins RF, Sheffield VC, Jacobson SG. Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Archives of Ophthalmology (Chicago, Ill. : 1960). 129: 81-7. PMID 21220633 DOI: 10.1001/archophthalmol.2010.330  0.8
2011 Muhammad E, Leventhal N, Parvari G, Hanukoglu A, Hanukoglu I, Chalifa-Caspi V, Feinstein Y, Weinbrand J, Jacoby H, Manor E, Nagar T, Beck JC, Sheffield VC, Hershkovitz E, Parvari R. Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. Human Genetics. 129: 397-405. PMID 21184099 DOI: 10.1007/s00439-010-0930-4  0.8
2011 Guo DF, Beyer AM, Yang B, Nishimura DY, Sheffield VC, Rahmouni K. Inactivation of Bardet-Biedl syndrome genes causes kidney defects. American Journal of Physiology. Renal Physiology. 300: F574-80. PMID 21106857 DOI: 10.1152/ajprenal.00150.2010  0.8
2011 Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, ... Sheffield VC, et al. Genome-wide analysis of copy number variants in age-related macular degeneration. Human Genetics. 129: 91-100. PMID 20981449 DOI: 10.1007/s00439-010-0904-6  0.8
2010 Thompson S, Recober A, Vogel TW, Kuburas A, Owens JA, Sheffield VC, Russo AF, Stone EM. Light aversion in mice depends on nonimage-forming irradiance detection. Behavioral Neuroscience. 124: 821-7. PMID 21038932 DOI: 10.1037/a0021568  0.8
2010 Sapp JC, Nishimura D, Johnston JJ, Stone EM, Héon E, Sheffield VC, Biesecker LG. Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 623-7. PMID 20949666 DOI: 10.1097/GIM.0b013e3181f07572  0.8
2010 Beyer AM, Guo DF, Sheffield VC, Rahmouni K. Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes. American Journal of Physiology. Heart and Circulatory Physiology. 299: H1902-7. PMID 20852044 DOI: 10.1152/ajpheart.00336.2010  0.8
2010 Shyy W, Wang K, Gurnett CA, Dobbs MB, Miller NH, Wise C, Sheffield VC, Morcuende JA. Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis. Journal of Pediatric Orthopedics. 30: 539-43. PMID 20733416 DOI: 10.1097/BPO.0b013e3181e7902c  0.8
2010 Sheffield VC. The blind leading the obese: the molecular pathophysiology of a human obesity syndrome. Transactions of the American Clinical and Climatological Association. 121: 172-81; discussion 1. PMID 20697559  0.8
2010 Schindler EI, Nylen EL, Ko AC, Affatigato LM, Heggen AC, Wang K, Sheffield VC, Stone EM. Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Human Molecular Genetics. 19: 3693-701. PMID 20647261 DOI: 10.1093/hmg/ddq284  0.8
2010 Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. American Journal of Human Genetics. 86: 686-95. PMID 20398886 DOI: 10.1016/j.ajhg.2010.03.005  0.8
2010 Shyy W, Wang K, Sheffield VC, Morcuende JA. Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot. Journal of Pediatric Orthopedics. 30: 231-4. PMID 20357587 DOI: 10.1097/BPO.0b013e3181d35e3f  0.8
2010 Pretorius PR, Baye LM, Nishimura DY, Searby CC, Bugge K, Yang B, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. Plos Genetics. 6: e1000884. PMID 20333246 DOI: 10.1371/journal.pgen.1000884  0.8
2010 Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K. Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. Human Mutation. 31: 429-36. PMID 20120035 DOI: 10.1002/humu.21204  0.8
2010 Seo S, Baye LM, Schulz NP, Beck JS, Zhang Q, Slusarski DC, Sheffield VC. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proceedings of the National Academy of Sciences of the United States of America. 107: 1488-93. PMID 20080638 DOI: 10.1073/pnas.0910268107  0.8
2010 Jones KB, Piombo V, Searby C, Kurriger G, Yang B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, Vortkamp A, Sheffield VC. A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proceedings of the National Academy of Sciences of the United States of America. 107: 2054-9. PMID 20080592 DOI: 10.1073/pnas.0910875107  0.8
2009 Walder RY, Yang B, Stokes JB, Kirby PA, Cao X, Shi P, Searby CC, Husted RF, Sheffield VC. Mice defective in Trpm6 show embryonic mortality and neural tube defects. Human Molecular Genetics. 18: 4367-75. PMID 19692351 DOI: 10.1093/hmg/ddp392  0.8
2009 Kaushik AP, Martin JA, Zhang Q, Sheffield VC, Morcuende JA. 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. 27: 1093-9. PMID 19195025 DOI: 10.1002/jor.20855  0.8
2009 Shyy W, Dietz F, Dobbs MB, Sheffield VC, Morcuende JA. Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot. Clinical Orthopaedics and Related Research. 467: 1201-5. PMID 19159115 DOI: 10.1007/s11999-008-0701-x  0.8
2009 Seo S, Guo DF, Bugge K, Morgan DA, Rahmouni K, Sheffield VC. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Human Molecular Genetics. 18: 1323-31. PMID 19150989 DOI: 10.1093/hmg/ddp031  0.8
2009 Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Novel copy number variants in children with autism and additional developmental anomalies Journal of Neurodevelopmental Disorders. 1: 292-301. DOI: 10.1007/s11689-009-9013-z  0.8
2008 Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, Bazan JF, Slusarski DC, Sheffield VC, Jackson PK, Nachury MV. A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Developmental Cell. 15: 854-65. PMID 19081074 DOI: 10.1016/j.devcel.2008.11.001  0.8
2008 Fingert JH, Oh K, Chung M, Scheetz TE, Andorf JL, Johnson RM, Sheffield VC, Stone EM. Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. Archives of Ophthalmology (Chicago, Ill. : 1960). 126: 1301-7. PMID 18779497 DOI: 10.1001/archopht.126.9.1301  0.8
2008 Thompson S, Foster RG, Stone EM, Sheffield VC, Mrosovsky N. Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light. The European Journal of Neuroscience. 27: 1973-9. PMID 18412618 DOI: 10.1111/j.1460-9568.2008.06168.x  0.8
2008 Tayeh MK, Yen HJ, Beck JS, Searby CC, Westfall TA, Griesbach H, Sheffield VC, Slusarski DC. Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Human Molecular Genetics. 17: 1956-67. PMID 18381349 DOI: 10.1093/hmg/ddn093  0.8
2008 Shah SS, Al-Rajhi A, Brandt JD, Mannis MJ, Roos B, Sheffield VC, Syed NA, Stone EM, Fingert JH. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Ophthalmic Genetics. 29: 41-5. PMID 18363173 DOI: 10.1080/13816810701850033  0.8
2008 Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R, Braun TA, Sheffield VC, Sadun AA, Stone EM. Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genetics. 29: 17-24. PMID 18363168 DOI: 10.1080/13816810701867607  0.8
2008 Davis LK, Hazlett HC, Librant AL, Nopoulos P, Sheffield VC, Piven J, Wassink TH. 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. 147: 1145-51. PMID 18361446 DOI: 10.1002/ajmg.b.30738  0.8
2008 Wassink TH, Vieland VJ, Sheffield VC, Bartlett CW, Goedken R, Childress D, Piven J. Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16. Psychiatric Genetics. 18: 85-91. PMID 18349700 DOI: 10.1097/YPG.0b013e3282f9b48e  0.8
2008 Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Pax6 3′ deletion results in aniridia, autism and mental retardation Human Genetics. 123: 371-378. PMID 18322702 DOI: 10.1007/s00439-008-0484-x  0.8
2008 Rahmouni K, Fath MA, Seo S, Thedens DR, Berry CJ, Weiss R, Nishimura DY, Sheffield VC. Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. The Journal of Clinical Investigation. 118: 1458-67. PMID 18317593 DOI: 10.1172/JCI32357  0.8
2008 Shah AS, Farmen SL, Moninger TO, Businga TR, Andrews MP, Bugge K, Searby CC, Nishimura D, Brogden KA, Kline JN, Sheffield VC, Welsh MJ. 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. 105: 3380-5. PMID 18299575 DOI: 10.1073/pnas.0712327105  0.8
2008 Wang WH, McNatt LG, Pang IH, Millar JC, Hellberg PE, Hellberg MH, Steely HT, Rubin JS, Fingert JH, Sheffield VC, Stone EM, Clark AF. Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. The Journal of Clinical Investigation. 118: 1056-64. PMID 18274669 DOI: 10.1172/JCI33871  0.8
2008 Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Brøndum-Nielsen K. Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. American Journal of Medical Genetics. Part A. 146: 517-20. PMID 18203199 DOI: 10.1002/ajmg.a.32136  0.8
2007 O'Leary BM, Davis SG, Smith MF, Brown B, Kemp MB, Almabrazi H, Grundstad JA, Burns T, Leontiev V, Andorf J, Clark AF, Sheffield VC, Casavant TL, Scheetz TE, Stone EM, et al. Transcript annotation prioritization and screening system (TrAPSS) for mutation screening. Journal of Bioinformatics and Computational Biology. 5: 1155-72. PMID 18172923 DOI: 10.1142/S0219720007003132  0.8
2007 Fingert JH, Alward WL, Kwon YH, Wang K, Streb LM, Sheffield VC, Stone EM. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. American Journal of Ophthalmology. 144: 974-975. PMID 18036875 DOI: 10.1016/j.ajo.2007.09.034  0.8
2007 Davis RE, Swiderski RE, Rahmouni K, Nishimura DY, Mullins RF, Agassandian K, Philp AR, Searby CC, Andrews MP, Thompson S, Berry CJ, Thedens DR, Yang B, Weiss RM, Cassell MD, ... ... Sheffield VC, et al. 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. 104: 19422-7. PMID 18032602 DOI: 10.1073/pnas.0708571104  0.8
2007 Swiderski RE, Nishimura DY, Mullins RF, Olvera MA, Ross JL, Huang J, Stone EM, Sheffield VC. 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. 48: 3329-40. PMID 17591906 DOI: 10.1167/iovs.06-1477  0.8
2007 Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 129: 1201-13. PMID 17574030 DOI: 10.1016/j.cell.2007.03.053  0.8
2007 Fingert JH, Grassi MA, Janutka JC, East JS, Howard JG, Sheffield VC, Jacobson DM, Hayreh SS, Stone EM. Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree. Ophthalmic Genetics. 28: 1-7. PMID 17454741 DOI: 10.1080/13816810701199399  0.8
2007 Fingert JH, Honkanen RA, Shankar SP, Affatigato LM, Ehlinger MA, Moore MD, Jampol LM, Sheffield VC, Stone EM, Alward WL. Familial cavitary optic disk anomalies: identification of a novel genetic locus. American Journal of Ophthalmology. 143: 795-800. PMID 17368552 DOI: 10.1016/j.ajo.2007.01.042  0.8
2007 Fingert JH, Alward WL, Kwon YH, Shankar SP, Andorf JL, Mackey DA, Sheffield VC, Stone EM. No association between variations in the WDR36 gene and primary open-angle glaucoma. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 434-6. PMID 17353431 DOI: 10.1001/archopht.125.3.434-b  0.8
2007 Shepard AR, Jacobson N, Millar JC, Pang IH, Steely HT, Searby CC, Sheffield VC, Stone EM, Clark AF. Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Human Molecular Genetics. 16: 609-17. PMID 17317787 DOI: 10.1093/hmg/ddm001  0.8
2007 Grassi MA, Folk JC, Scheetz TE, Taylor CM, Sheffield VC, Stone EM. Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 93-7. PMID 17210858 DOI: 10.1001/archopht.125.1.93  0.8
2007 White DR, Ganesh A, Nishimura D, Rattenberry E, Ahmed S, Smith UM, Pasha S, Raeburn S, Trembath RC, Rajab A, Macdonald F, Banin E, Stone EM, Johnson CA, Sheffield VC, et al. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. European Journal of Human Genetics : Ejhg. 15: 173-8. PMID 17106446 DOI: 10.1038/sj.ejhg.5201736  0.44
2007 Wassink TH, Losh M, Piven J, Sheffield VC, Ashley E, Westin ER, Patil SR. Systematic screening for subtelomeric anomalies in a clinical sample of autism. Journal of Autism and Developmental Disorders. 37: 703-8. PMID 17004120 DOI: 10.1007/s10803-006-0196-9  0.8
2006 Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Investigative Ophthalmology & Visual Science. 47: 5004-10. PMID 17065520 DOI: 10.1167/iovs.06-0517  0.44
2006 Scheetz TE, Kim KY, Swiderski RE, Philp AR, Braun TA, Knudtson KL, Dorrance AM, DiBona GF, Huang J, Casavant TL, Sheffield VC, Stone EM. 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. 103: 14429-34. PMID 16983098 DOI: 10.1073/pnas.0602562103  0.8
2006 Fingert JH, Kwon YH, Moore PA, Johnston RM, Kim KY, Sheffield VC, Alward WL, Stone EM. 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. 27: 39-41. PMID 16754204 DOI: 10.1080/13816810600677883  0.8
2006 Fingert JH, Eliason DA, Phillips NC, Lotery AJ, Sheffield VC, Stone EM. Case of Stargardt disease caused by uniparental isodisomy. Archives of Ophthalmology (Chicago, Ill. : 1960). 124: 744-5. PMID 16682602 DOI: 10.1001/archopht.124.5.744  0.8
2006 Bischof JM, Chiang AP, Scheetz TE, Stone EM, Casavant TL, Sheffield VC, Braun TA. Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Human Mutation. 27: 545-52. PMID 16671097 DOI: 10.1002/humu.20335  0.8
2006 Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, ... Sheffield VC, et al. 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. 103: 6287-92. PMID 16606853 DOI: 10.1073/pnas.0600158103  0.8
2006 Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Human Molecular Genetics. 15: 667-77. PMID 16399798 DOI: 10.1093/hmg/ddi468  0.8
2006 Braun TA, Shankar SP, Davis S, O'Leary B, Scheetz TE, Clark AF, Sheffield VC, Casavant TL, Stone EM. Prioritizing regions of candidate genes for efficient mutation screening. Human Mutation. 27: 195-200. PMID 16395665 DOI: 10.1002/humu.20247  0.8
2005 Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. American Journal of Human Genetics. 77: 1021-33. PMID 16380913 DOI: 10.1086/498323  0.44
2005 Pinto LH, Vitaterna MH, Shimomura K, Siepka SM, McDearmon EL, Fenner D, Lumayag SL, Omura C, Andrews AW, Baker M, Invergo BM, Olvera MA, Heffron E, Mullins RF, Sheffield VC, et al. Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse. Visual Neuroscience. 22: 619-29. PMID 16332273 DOI: 10.1017/S0952523805225117  0.8
2005 Wang K, Sheffield VC. A constrained-likelihood approach to marker-trait association studies. American Journal of Human Genetics. 77: 768-80. PMID 16252237 DOI: 10.1086/497434  0.8
2005 Wassink TH, Piven J, Vieland VJ, Jenkins L, Frantz R, Bartlett CW, Goedken R, Childress D, Spence MA, Smith M, Sheffield VC. 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. 136: 36-44. PMID 15892143 DOI: 10.1002/ajmg.b.30180  0.8
2005 Wassink TH, Losh M, Frantz RS, Vieland VJ, Goedken R, Piven J, Sheffield VC. A case of autism and uniparental disomy of chromosome 1. Human Genetics. 117: 200-6. PMID 15887000 DOI: 10.1007/s00439-005-1257-4  0.8
2005 Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Human Molecular Genetics. 14: 1109-18. PMID 15772095 DOI: 10.1093/hmg/ddi123  0.8
2005 Héon E, Westall C, Carmi R, Elbedour K, Panton C, Mackeen L, Stone EM, Sheffield VC. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. American Journal of Medical Genetics. Part A. 132: 283-7. PMID 15690372 DOI: 10.1002/ajmg.a.30466  0.8
2005 Ho BC, Wassink TH, O'Leary DS, Sheffield VC, Andreasen NC. Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: working memory, frontal lobe MRI morphology and frontal cerebral blood flow. Molecular Psychiatry. 10: 229, 287-98. PMID 15668720 DOI: 10.1038/  0.8
2005 Iannaccone A, Mykytyn K, Persico AM, Searby CC, Baldi A, Jablonski MM, Sheffield VC. Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. American Journal of Medical Genetics. Part A. 132: 343-6. PMID 15654695 DOI: 10.1002/ajmg.a.30512  0.8
2005 Brown J, Webster AR, Sheffield VC, Stone EM. Molecular Genetics of Retinal Disease Retina: Fourth Edition. 1: 373-394. DOI: 10.1016/B978-0-323-02598-0.50022-7  0.8
2004 Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC. 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. 101: 16588-93. PMID 15539463 DOI: 10.1073/pnas.0405496101  0.8
2004 Pinto LH, Vitaterna MH, Siepka SM, Shimomura K, Lumayag S, Baker M, Fenner D, Mullins RF, Sheffield VC, Stone EM, Heffron E, Takahashi JS. Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus. Vision Research. 44: 3335-45. PMID 15536001 DOI: 10.1016/j.visres.2004.07.025  0.8
2004 Bonaldo MF, Bair TB, Scheetz TE, Snir E, Akabogu I, Bair JL, Berger B, Crouch K, Davis A, Eyestone ME, Keppel C, Kucaba TA, Lebeck M, Lin JL, de Melo AI, ... ... Sheffield VC, et al. 1274 full-open reading frames of transcripts expressed in the developing mouse nervous system. Genome Research. 14: 2053-63. PMID 15489326 DOI: 10.1101/gr.2601304  0.8
2004 Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC. Missense variations in the fibulin 5 gene and age-related macular degeneration. The New England Journal of Medicine. 351: 346-53. PMID 15269314 DOI: 10.1056/NEJMoa040833  0.8
2004 Sheffield VC. Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome Pediatric Research. 55: 908-911. PMID 15155861 DOI: 10.1203/01.pdr.0000127013.14444.9c  0.8
2004 Mykytyn K, Sheffield VC. Establishing a connection between cilia and Bardet-Biedl Syndrome. Trends in Molecular Medicine. 10: 106-9. PMID 15106604 DOI: 10.1016/j.molmed.2004.01.003  0.8
2004 Wassink TH, Piven J, Vieland VJ, Pietila J, Goedken RJ, Folstein SE, Sheffield VC. Examination of AVPR1a as an autism susceptibility gene. Molecular Psychiatry. 9: 968-72. PMID 15098001 DOI: 10.1038/  0.8
2003 Jacobson SG, Cideciyan AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, Smilko EE, Milam AH, Sheffield VC, Stone EM. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Human Molecular Genetics. 12: 1073-8. PMID 12700176 DOI: 10.1093/hmg/ddg117  0.8
2003 Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology. 110: 549-58. PMID 12623820 DOI: 10.1016/S0161-6420(02)01757-8  0.8
2003 Braun TA, Scheetz TE, Webster G, Clark A, Stone EM, Sheffield VC, Casavant TL. Identifying candidate disease genes with high-performance computing Journal of Supercomputing. 26: 7-24. DOI: 10.1023/A:1024417200364  0.8
2002 Fingert JH, Stone EM, Sheffield VC, Alward WL. Myocilin glaucoma. Survey of Ophthalmology. 47: 547-61. PMID 12504739 DOI: 10.1016/S0039-6257(02)00353-3  0.8
2002 Graul TA, Kwon YH, Zimmerman MB, Kim CS, Sheffield VC, Stone EM, Alward WL. 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. 134: 884-90. PMID 12470758 DOI: 10.1016/S0002-9394(02)01754-3  0.8
2002 Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC. The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. Archives of Ophthalmology (Chicago, Ill. : 1960). 120: 1364-7. PMID 12365916  0.8
2002 Gavin AJ, Scheetz TE, Roberts CA, O'Leary B, Braun TA, Sheffield VC, Soares MB, Robinson JP, Casavant TL. Pooled library tissue tags for EST-based gene discovery. Bioinformatics (Oxford, England). 18: 1162-6. PMID 12217907  0.8
2002 Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, ... ... Sheffield VC, et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genetics. 31: 435-8. PMID 12118255 DOI: 10.1038/ng935  0.8
2002 Wassink TH, Piven J, Vieland VJ, Pietila J, Goedken RJ, Folstein SE, Sheffield VC. Evaluation of FOXP2 as an autism susceptibility gene. American Journal of Medical Genetics. 114: 566-9. PMID 12116195 DOI: 10.1002/ajmg.10415  0.8
2002 Neuhausen SL, Weizman Z, Camp NJ, Elbedour K, Sheffield VC, Zone JJ, Carmi R. HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease. Human Immunology. 63: 502-7. PMID 12039527 DOI: 10.1016/S0198-8859(02)00395-6  0.8
2002 Green GE, Scott DA, McDonald JM, Teagle HF, Tomblin BJ, Spencer LJ, Woodworth GG, Knutson JF, Gantz BJ, Sheffield VC, Smith RJ. Performance of cochlear implant recipients with GJB2-related deafness. American Journal of Medical Genetics. 109: 167-70. PMID 11977173 DOI: 10.1002/ajmg.10330  0.8
2002 Jacobson SG, Cideciyan AV, Bennett J, Kingsley RM, Sheffield VC, Stone EM. Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Archives of Ophthalmology (Chicago, Ill. : 1960). 120: 376-9. PMID 11879143  0.8
2002 Borges AS, Susanna R, Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY. Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. Journal of Glaucoma. 11: 51-6. PMID 11821690  0.8
2001 Sheffield VC. Homozygosity mapping using pooled DNA Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. PMID 18428233  0.8
2001 Kawase C, Kawase K, Taniguchi T, Sugiyama K, Yamamoto T, Kitazawa Y, Alward WL, Stone EM, Nishimura DY, Sheffield VC. Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. Journal of Glaucoma. 10: 477-82. PMID 11740218  0.8
2001 Shepard AR, Jacobson N, Fingert JH, Stone EM, Sheffield VC, Clark AF. Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells. Investigative Ophthalmology & Visual Science. 42: 3173-81. PMID 11726619  0.8
2001 Stone EM, Sheffield VC, Hageman GS. Molecular genetics of age-related macular degeneration. Human Molecular Genetics. 10: 2285-92. PMID 11673412  0.8
2001 Sheffield VC, Nishimura D, Stone EM. The molecular genetics of Bardet-Biedl syndrome. Current Opinion in Genetics & Development. 11: 317-21. PMID 11377969 DOI: 10.1016/S0959-437X(00)00196-9  0.8
2001 Wang WH, McNatt LG, Shepard AR, Jacobson N, Nishimura DY, Stone EM, Sheffield VC, Clark AF. Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR. Molecular Vision. 7: 89-94. PMID 11320352  0.8
2001 Campbell C, Cucci RA, Prasad S, Green GE, Bradley Edeal J, Galer CE, Karniski LP, Sheffield VC, Smith RJH. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations Human Mutation. 17: 403-411. PMID 11317356 DOI: 10.1002/humu.1116  0.8
2001 Shalev H, Mishori-Dery A, Kapelushnik J, Moser A, Sheffield VC, McClain A, Carmi R. Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis. Prenatal Diagnosis. 21: 183-6. PMID 11260604 DOI: 10.1002/1097-0223(200103)21:3<183::AID-PD28>3.0.CO;2-M  0.8
2000 Swiderski RE, Ross JL, Fingert JH, Clark AF, Alward WL, Stone EM, Sheffield VC. Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Investigative Ophthalmology & Visual Science. 41: 3420-8. PMID 11006234  0.8
2000 Sheffield VC. The vision of Typhoon Lengkieki Nature Medicine. 6: 746-747. PMID 10888918 DOI: 10.1038/77465  0.8
2000 Scott DA, Sheffield VC. DFNB11. Advances in Oto-Rhino-Laryngology. 56: 168-70. PMID 10868230  0.8
2000 Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC. 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. 9: 1709-15. PMID 10861298  0.8
2000 Scott DA, Drury S, Sundstrom RA, Bishop J, Swiderski RE, Carmi R, Ramesh A, Elbedour K, Srikumari Srisailapathy CR, Keats BJ, Sheffield VC, Smith RJ. Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. Gene. 246: 265-74. PMID 10767548 DOI: 10.1016/S0378-1119(00)00090-1  0.8
2000 Buddles MRH, Donne RL, Richards A, Goodship J, Goodship THJ, Sheffield VC, Ying L, Carmi R, Landau D. Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome (multiple letters) American Journal of Human Genetics. 66: 1721-1722. PMID 10762557 DOI: 10.1086/302877  0.8
2000 Ghiasvand NM, Kanis AB, Helms C, Sheffield VC, Stone EM, Donis-Keller H. Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21. American Journal of Medical Genetics. 90: 165-8. PMID 10607958 DOI: 10.1002/(SICI)1096-8628(20000117)90:2<165::AID-AJMG15>3.0.CO;2-O  0.8
1999 El-Shanti H, Al-Salem M, El-Najjar M, Ajlouni K, Beck J, Sheffield VC, Stone EM. A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan [3] Journal of Medical Genetics. 36: 862-865. PMID 10636733  0.8
1999 Kanis AB, Al-Rajhi AA, Taylor CM, Mathers WD, Folberg R, Nishimura DY, Sheffield VC, Stone EM. Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci Ophthalmic Genetics. 20: 243-249. PMID 10617922  0.8
1999 Mellott ML, Brown J, Fingert JH, Taylor CM, Keech RV, Sheffield VC, Stone EM. Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly. Archives of Ophthalmology (Chicago, Ill. : 1960). 117: 1630-3. PMID 10604668  0.8
1999 Ying L, Katz Y, Schlesinger M, Carmi R, Shalev H, Haider N, Beck G, Sheffield VC, Landau D. Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. American Journal of Human Genetics. 65: 1538-46. PMID 10577907 DOI: 10.1086/302673  0.8
1999 Haider NB, Searby C, Galperin E, Mintz L, Horowitz M, Stone EM, Sheffield VC. Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). Gene. 240: 227-32. PMID 10564830 DOI: 10.1016/S0378-1119(99)00395-9  0.8
1999 Swiderski RE, Reiter RS, Nishimura DY, Alward WLM, Kalenak JW, Searby CS, Stone EM, Sheffield VC, Lin JJC. Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects Developmental Dynamics. 216: 16-27. PMID 10474162 DOI: 10.1002/(SICI)1097-0177(199909)216:1<16::AID-DVDY4>3.0.CO;2-1  0.8
1999 Ellsworth RE, Ionasescu V, Searby C, Sheffield VC, Braden VV, Kucaba TA, McPherson JD, Marra MA, Green ED. The CMT2D locus: Refined genetic position and construction of a bacterial clone-based physical map Genome Research. 9: 568-574. PMID 10400924  0.8
1999 Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. Jama. 281: 2211-6. PMID 10376574 DOI: 10.1001/jama.281.23.2211  0.8
1999 Swiderski RE, Ying L, Cassell MD, Alward WL, Stone EM, Sheffield VC. Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. Brain Research. Molecular Brain Research. 68: 64-72. PMID 10320784 DOI: 10.1016/S0169-328X(99)00085-6  0.8
1999 Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nature Genetics. 21: 440-3. PMID 10192399 DOI: 10.1038/7783  0.8
1999 Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. The Journal of Clinical Endocrinology and Metabolism. 84: 1061-71. PMID 10084596 DOI: 10.1210/jcem.84.3.5541  0.8
1998 Stone EM, Webster AR, Vandenburgh K, Streb LM, Hockey RR, Lotery AJ, Sheffield VC. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nature Genetics. 20: 328-9. PMID 9843201 DOI: 10.1038/3798  0.8
1998 Sheffield VC, Stone EM, Carmi R. Use of isolated inbred human populations for identification of disease genes. Trends in Genetics : Tig. 14: 391-6. PMID 9820027 DOI: 10.1016/S0168-9525(98)01556-X  0.8
1998 Haider NB, Carmi R, Shalev H, Sheffield VC, Landau D. A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. American Journal of Human Genetics. 63: 1404-10. PMID 9792867 DOI: 10.1086/302108  0.8
1998 Scott DA, Greinwald JH, Marietta JR, Drury S, Swiderski RE, Viñas A, DeAngelis MM, Carmi R, Ramesh A, Kraft ML, Elbedour K, Skworak AB, Friedman RA, Srikumari Srisailapathy CR, Verhoeven K, ... ... Sheffield VC, et al. 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. 215: 461-9. PMID 9758550 DOI: 10.1016/S0378-1119(98)00316-3  0.8
1998 Broman KW, Murray JC, Sheffield VC, White RL, Weber JL. Comprehensive human genetic maps: individual and sex-specific variation in recombination. American Journal of Human Genetics. 63: 861-9. PMID 9718341 DOI: 10.1086/302011  0.8
1998 Heaney C, Shalev H, Elbedour K, Carmi R, Staack JB, Sheffield VC, Beier DR. Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. Human Molecular Genetics. 7: 1407-10. PMID 9700194 DOI: 10.1093/hmg/7.9.1407  0.8
1998 Parvari R, Hershkovitz E, Kanis A, Gorodischer R, Shalitin S, Sheffield VC, Carmi R. Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. American Journal of Human Genetics. 63: 163-9. PMID 9634513 DOI: 10.1086/301915  0.8
1998 Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Human Mutation. 11: 387-94. PMID 9600457 DOI: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8  0.8
1998 Fingert JH, Ying L, Swiderski RE, Nystuen AM, Arbour NC, Alward WL, Sheffield VC, Stone EM. Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Research. 8: 377-84. PMID 9548973  0.8
1998 Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, Jacobson SG, McInnes RR, Zack DJ, Stone EM. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nature Genetics. 18: 311-2. PMID 9537410 DOI: 10.1038/ng0498-311  0.8
1998 Brennan TM, Landau D, Shalev H, Lamb F, Schutte BC, Walder RY, Mark AL, Carmi R, Sheffield VC. Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. American Journal of Human Genetics. 62: 355-61. PMID 9463315 DOI: 10.1086/301708  0.8
1998 Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJ. Connexin mutations and hearing loss. Nature. 391: 32. PMID 9422505 DOI: 10.1038/34079  0.8
1998 Scheetz TE, Braun TA, Munn KJ, Stone EM, Sheffield VC, Casavant TL. GenoMap: A distributed system for unifying genotyping and genetic linkage analysis Parallel Computing. 24: 1567-1592.  0.8
1997 Lam BL, Fingert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC, Stone EM. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1) Ophthalmic Genetics. 18: 175-84. PMID 9457748  0.8
1997 Bonné-Tamir B, Nystuen A, Seroussi E, Kalinsky H, Kwitek-Black AE, Korostishevsky M, Adato A, Sheffield VC. Usher syndrome in the Samaritans: Strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders American Journal of Physical Anthropology. 104: 193-200. PMID 9386826 DOI: 10.1002/(SICI)1096-8644(199710)104:2<193::AID-AJPA5>3.0.CO;2-#  0.8
1997 Weleber RG, Butler NS, Murphey WH, Sheffield VC, Stone EM. X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR Archives of Ophthalmology. 115: 1429-1435. PMID 9366675  0.8
1997 Greinwald JH, Scott DA, Marietta JR, Carmi R, Manaligod J, Ramesh A, Zbar RI, Kraft ML, Elbedour K, Yairi Y, Musy M, Skvorak AB, Van Camp G, Srisailapathy CR, Lovett M, ... ... Sheffield VC, et al. Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. Genome Research. 7: 879-86. PMID 9314493  0.8
1997 Chen A, Wayne S, Bell A, Ramesh A, Srisailapathy CR, Scott DA, Sheffield VC, Van Hauwe P, Zbar RI, Ashley J, Lovett M, Van Camp G, Smith RJ. New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. American Journal of Medical Genetics. 71: 467-71. PMID 9286457 DOI: 10.1002/(SICI)1096-8628(19970905)71:4<467::AID-AJMG18>3.0.CO;2-E  0.8
1997 Walder RY, Shalev H, Brennan TM, Carmi R, Elbedour K, Scott DA, Hanauer A, Mark AL, Patil S, Stone EM, Sheffield VC. Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Human Molecular Genetics. 6: 1491-7. PMID 9285786 DOI: 10.1093/hmg/6.9.1491  0.8
1997 Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, Rokhlina T, Stone EM, Sheffield VC. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling Human Molecular Genetics. 6: 689-694. PMID 9158143  0.8
1997 Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonné-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC. 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. 6: 563-9. PMID 9097959 DOI: 10.1093/hmg/6.4.563  0.8
1997 Yuan B, Vaske D, Weber JL, Beck J, Sheffield VC. Improved set of short-tandem-repeat polymorphisms for screening the human genome. American Journal of Human Genetics. 60: 459-60. PMID 9012420  0.8
1997 Sheffield VC, Pierpont ME, Nishimura D, Beck JS, Burns TL, Berg MA, Stone EM, Patil SR, Lauer RM. Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis Human Molecular Genetics. 6: 117-121. PMID 9002679 DOI: 10.1093/hmg/6.1.117  0.8
1996 Wille AH, Terrell RB, Cheville JC, Sheffield VC, Cohen MB. Focal microsatellite mutations in relatives with prostatic adenocarcinoma. Anticancer Research. 16: 3883-6. PMID 9042275  0.8
1996 Piguet B, Héon E, Munier FL, Grounauer PA, Niemeyer G, Butler N, Schorderet DF, Sheffield VC, Stone EM. Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. Ophthalmic Genetics. 17: 175-86. PMID 9010868  0.8
1996 Jacobson SG, Cideciyan AV, Maguire AM, Bennett J, Sheffield VC, Stone EM. Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene Experimental Eye Research. 63: 603-608. PMID 8994365  0.8
1996 Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Human Molecular Genetics. 5: 1689-92. PMID 8894709  0.8
1996 Sunden SLF, Alward WLM, Nichols BE, Rokhlina TR, Nystuen A, Stone EM, Sheffield VC. Fine mapping of the autosomal dominant Juvenile Open Angle Glaucoma (GLC1A) region and evaluation of candidate genes Genome Research. 6: 862-869. PMID 8889553  0.8
1996 Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D) Human Molecular Genetics. 5: 1373-1375. PMID 8872480 DOI: 10.1093/hmg/5.9.1373  0.8
1996 Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands Human Molecular Genetics. 5: 525-531. PMID 8845847 DOI: 10.1093/hmg/5.4.525  0.8
1996 Alward WLM, Johnson AT, Nishimura DY, Sheffield VC, Stone EM. Molecular genetics of glaucoma: Current status Journal of Glaucoma. 5: 276-284. PMID 8795774  0.8
1996 Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC. An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. American Journal of Human Genetics. 59: 385-91. PMID 8755925  0.8
1996 Jacobson SG, Cideciyan AV, Kemp CM, Sheffield VC, Stone EM. Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. Investigative Ophthalmology & Visual Science. 37: 1662-74. PMID 8675410  0.8
1996 Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, 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. 12: 424-426. PMID 8630498 DOI: 10.1038/ng0496-424  0.8
1996 Stone EM, Sheffield VC. Genetic approaches to human retinal disorders Investigative Ophthalmology and Visual Science. 37.  0.8
1996 Iannaccone A, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG. Phenotype of chromosome 8q-linked autosomal dominant retinitis pigmentosa Investigative Ophthalmology and Visual Science. 37.  0.8
1996 Regunath G, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG. Vitamin A increases pericentral visual function in patients with macular degeneration due to Sorsby's fundus dystrophy and a TIMP3 gene mutation Investigative Ophthalmology and Visual Science. 37.  0.8
1996 Nystuen AM, Benke P, Merren J, Stone EM, Sheffield VC. A genetic locus associated with nystagmus and strabismus identified by pooling of DNA from an isolated Cayman island population Investigative Ophthalmology and Visual Science. 37.  0.8
1996 Kwitek-Black AE, Krizman D, Carmi R, Doggett N, Stone EM, Sheffield VC. Fine-mapping of Bardet-Biedl syndrome locus on chromosome 16 Investigative Ophthalmology and Visual Science. 37: S1123.  0.8
1996 Jacobson SG, Cideciyan AV, Kuntz CA, Li ZY, Sheffield VC, Stone EM, Milam AH. A late onset autosomal dominant retinal degeneration with sub-retinal pigment epithelial deposits Investigative Ophthalmology and Visual Science. 37.  0.8
1996 Cideciyan AV, Hood DC, Regunath G, Sheffield VC, Stone EM, Nathans J, Jacobson SG. Post-receptoral rod and cone abnormalities in retinitis pigmentosa caused by rhodopsin gene mutations Investigative Ophthalmology and Visual Science. 37: S501.  0.8
1996 Sheffield VC, Sunden SLF, Alward WLM, Rohklina TR, Nichols BE, Stone EM. High-density mapping of the juvenile open angle glaucoma region Investigative Ophthalmology and Visual Science. 37.  0.8
1996 Fingert JH, Brown J, Taylor CM, Butler N, Lake M, Sheffield VC, Stone EM. Refinement of the dominant optic atrophy locus (3q) and clinical characterization of a large family Investigative Ophthalmology and Visual Science. 37: S656.  0.8
1995 Gastier JM, Pulido JC, Sunden S, Brody T, Buetow KH, Murray JC, Weber JL, Hudson TJ, Sheffield VC, Duyk GM. Survey of trinucleotide repeats in the human genome: Assessment of their utility as genetic markers Human Molecular Genetics. 4: 1829-1836. PMID 8595403 DOI: 10.1093/hmg/4.10.1829  0.8
1995 Carmi R, Elbedour K, Stone EM, Sheffield VC. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. American Journal of Medical Genetics. 59: 199-203. PMID 8588586 DOI: 10.1002/ajmg.1320590216  0.8
1995 el-Sayed NM, Alarcon CM, Beck JC, Sheffield VC, Donelson JE. cDNA expressed sequence tags of Trypanosoma brucei rhodesiense provide new insights into the biology of the parasite. Molecular and Biochemical Parasitology. 73: 75-90. PMID 8577350 DOI: 10.1016/0166-6851(95)00098-L  0.8
1995 Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Ophthalmology. 102: 246-55. PMID 7862413  0.8
1995 Lam BL, Vandenburgh K, Sheffield VC, Stone EM. Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop) American Journal of Ophthalmology. 119: 65-71. PMID 7825692  0.8
1995 Dubovsky J, Sheffield VC, Duyk GM, Weber JL. Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome Human Molecular Genetics. 4: 449-452. PMID 7795601 DOI: 10.1093/hmg/4.3.449  0.8
1995 Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Human Molecular Genetics. 4: 9-13. PMID 7711739  0.8
1995 Brown DM, Vandenburgh K, Kimura AE, Weingeist TA, Sheffield VC, Stone EM. Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with stickler syndrome (hereditary arthro-ophthalmopathy) Human Molecular Genetics. 4: 141-142. PMID 7711727 DOI: 10.1093/hmg/4.1.141  0.8
1995 Terrell RB, Wille AH, Cheville JC, Nystuen AM, Cohen MB, Sheffield VC. Microsatellite instability in adenocarcinoma of the prostate. The American Journal of Pathology. 147: 799-805. PMID 7677191  0.8
1995 Zittergruen MM, Murray JC, Lauer RM, Burns TL, Sheffield VC. Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects Circulation. 92: 2803-2810. PMID 7586245  0.8
1995 Scott DA, Carmi R, Elbedour K, Duyk GM, Stone EM, Sheffield VC. Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. American Journal of Human Genetics. 57: 965-8. PMID 7573061  0.8
1995 Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone EM. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nature Genetics. 11: 27-32. PMID 7550309 DOI: 10.1038/ng0995-27  0.8
1995 Sheffield VC, Nishimura DY, Stone EM. Novel approaches to linkage mapping Current Opinion in Genetics and Development. 5: 335-341. PMID 7549428 DOI: 10.1016/0959-437X(95)80048-4  0.8
1995 Willert JR, Daneshvar L, Sheffield VC, Cogen PH. Deletion of chromosome arm 17p DNA sequences in pediatric high-grade and juvenile pilocytic astrocytomas Genes Chromosomes and Cancer. 12: 165-172. PMID 7536455 DOI: 10.1002/gcc.2870120303  0.8
1994 Nichols BE, Bascom R, Litt M, McInnes R, Sheffield VC, Stone EM. Refining the locus for best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM I American Journal of Human Genetics. 54: 95-103. PMID 8279475  0.8
1994 Cousineau AJ, Lauer RM, Pierpont ME, Burns TL, Ardinger RH, Patil SR, Sheffield VC. Linkage analysis of autosomal dominant atrio ventricular canal defects: exclusion of chromosome 21 Human Genetics. 93: 103-108. PMID 8112730 DOI: 10.1007/BF00210591  0.8
1994 Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa Ophthalmology. 101: 1409-1421. PMID 8058286  0.8
1994 Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Duyk GM, Sheffield VC, Wang Z, Murray JC. Integrated human genome−wide maps constructed using the CEPH reference panel Nature Genetics. 6: 391-393. PMID 8054980 DOI: 10.1038/ng0494-391  0.8
1994 Folberg R, Stone EM, Sheffield VC, Mathers WD. The Relationship Between Granular, Lattice Type 1, and Avellino Corneal Dystrophies: A Histopathologic Study Archives of Ophthalmology. 112: 1080-1085. PMID 8053822 DOI: 10.1001/archopht.1994.01090200086027  0.8
1994 Kemp CM, Jacobson SG, Cideciyan AV, Kimura AE, Sheffield VC, Stone EM. RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. Investigative Ophthalmology & Visual Science. 35: 3154-62. PMID 8045710  0.8
1994 Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC. Clinical Features of a Stargardt-Like Dominant Progressive Macular Dystrophy With Genetic Linkage to Chromosome 6q Archives of Ophthalmology. 112: 765-772. PMID 8002834 DOI: 10.1001/archopht.1994.01090180063036  0.8
1994 Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL, Stone EM. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Human Molecular Genetics. 3: 1331-5. PMID 7987310 DOI: 10.1093/hmg/3.8.1331  0.8
1993 Sheffield VC, Stone EM, Alward WLM, Drack AV, Johnson AT, Streb LM, Nichols BE. Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31 Nature Genetics. 4: 47-50. PMID 8513321 DOI: 10.1038/ng0593-47  0.8
1993 Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene Nature Genetics. 3: 202-207. PMID 8485574 DOI: 10.1038/ng0393-202  0.8
1993 Beck JS, Kwitek AE, Cogen PH, Metzger AK, Duyk GM, Sheffield VC. A denaturing gradient gel electrophoresis assay for sensitive detection of p53 mutations. Human Genetics. 91: 25-30. PMID 8454284 DOI: 10.1007/BF00230217  0.8
1993 Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EM. A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea Human Molecular Genetics. 2: 1347. PMID 8401530 DOI: 10.1093/hmg/2.8.1347-a  0.8
1993 Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics. 16: 325-32. PMID 8314571 DOI: 10.1006/geno.1993.1193  0.8
1993 Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM, Sheffield VC. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genetics. 5: 392-6. PMID 8298649 DOI: 10.1038/ng1293-392  0.8
1993 Ibraghimov-Beskrovnaya O, Sheffield VC, Campbell KP. Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR. Human Molecular Genetics. 2: 1983. PMID 8281174 DOI: 10.1093/hmg/2.11.1983-a  0.8
1993 Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EM. A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea Human Molecular Genetics. 2: 601-603. PMID 8251014 DOI: 10.1093/hmg/2.5.601  0.8
1993 Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene Archives of Ophthalmology. 111: 1531-1542. PMID 8240110 DOI: 10.1001/archopht.1993.01090110097033  0.8
1993 Nichols BE, Sheffield VC, Stone EM. A user-friendly hypercard interface for human linkage analysis Bioinformatics. 9: 757-759. PMID 8143163 DOI: 10.1093/bioinformatics/9.6.757  0.8
1993 Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EM. Corrigendum: A 2 bair deletion in the RDS gene associated with butterfly-shaped pigment dytrophy of the fovea (Human Molecular Genetics (1993) 2 (601-603)) Human Molecular Genetics. 2: 1347.  0.8
1992 Fishman GA, Stone EM, Sheffield VC, Gilbert LD, Kimura AE. Ocular Findings Associated with Rhodopsin Gene Codon 17 and Codon 182 Transition Mutations in Dominant Retinitis Pigmentosa Archives of Ophthalmology. 110: 54-62. PMID 1731723 DOI: 10.1001/archopht.1992.01080130056026  0.8
1992 Fishman GA, Stone EM, Gilbert LD, Sheffield VC. Ocular Findings Associated with a Rhodopsin Gene Codon 106 Mutation: Glycine-to-Arginine Change in Autosomal Dominant Retinitis Pigmentosa Archives of Ophthalmology. 110: 646-653. PMID 1580841 DOI: 10.1001/archopht.1992.01080170068026  0.8
1992 Sheffield VC, Beck JS, Stone EM, Myers RM. A simple and efficient method for attachment of a 40-base pair, GC-rich sequence to PCR-amplified DNA Biotechniques. 12. PMID 1571147  0.8
1992 Sheffield VC, Beck JS, Nichols B, Cousineau A, Lidral AC, Stone EM. Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. American Journal of Human Genetics. 50: 567-75. PMID 1539594  0.8
1992 Brown DM, Nichols BE, Weingeist TA, Sheffield VC, Kimura AE, Stone EM. Procollagen II Gene Mutation in Stickler Syndrome Archives of Ophthalmology. 110: 1589-1593. PMID 1444917 DOI: 10.1001/archopht.1992.01080230089027  0.8
1992 Fishman GA, Vandenburgh K, Stone EM, Gilbert LD, Alexander KR, Sheffield VC. Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa. Archives of Ophthalmology (Chicago, Ill. : 1960). 110: 1582-8. PMID 1444916 DOI: 10.1001/archopht.1992.01080230082026  0.8
1992 Freneaux E, Sheffield VC, Molin L, Shires A, Rhead WJ. Glutaric acidemia type II: Heterogeneity in β-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the α subunit of electron transfer flavoprotein in eight patients Journal of Clinical Investigation. 90: 1679-1686. PMID 1430199  0.8
1992 Cogen PH, Daneshvar L, Metzger AK, Duyk G, Edwards MS, Sheffield VC. Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. American Journal of Human Genetics. 50: 584-9. PMID 1347196  0.8
1992 Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13 Nature Genetics. 1: 246-250. PMID 1302019 DOI: 10.1038/ng0792-246  0.8
1992 Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC. Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13 Human Molecular Genetics. 1: 685-689. PMID 1284594 DOI: 10.1093/hmg/1.9.685  0.8
1991 Fishman GA, Stone EM, Gilbert LD, Kenna P, Sheffield VC. Ocular Findings Associated With a Rhodopsin Gene Codon 58 Transversion Mutation in Autosomal Dominant Retinitis Pigmentosa Archives of Ophthalmology. 109: 1387-1393. PMID 1929926 DOI: 10.1001/archopht.1991.01080100067044  0.8
1991 Sheffield VC, Fishman GA, Beck JS, Kimura AE, Stone EM. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. American Journal of Human Genetics. 49: 699-706. PMID 1897520  0.8
1991 Stone EM, Kimura AE, Nichols BE, Khadivi P, Fishman GA, Sheffield VC. Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene Ophthalmology. 98: 1806-1813. PMID 1775314  0.8
1991 Metzger AK, Sheffield VC, Duyk G, Daneshvar L, Edwards MS, Cogen PH. 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. 88: 7825-9. PMID 1679237  0.8
1989 Sheffield VC, Cox DR, Lerman LS, Myers RM. 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. 86: 232-6. PMID 2643100  0.8
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