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Val C. Sheffield - Publications

Affiliations: 
Neuroscience University of Iowa, Iowa City, IA 
 University of Illinois at Chicago, Chicago, IL, United States 
Area:
Neuroscience Biology, Medicine and Surgery, Human Development
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Year Citation  Score
2023 Guo DF, Williams PA, Laule C, Seaby C, Zhang Q, Sheffield VC, Rahmouni K. POMC Neuron BBSome Regulation of Body Weight is Independent of its Ciliary Function. Function (Oxford, England). 5: zqad070. PMID 38223458 DOI: 10.1093/function/zqad070  0.504
2022 Guo DF, Merrill RA, Qian L, Hsu Y, Zhang Q, Lin Z, Thedens DR, Usachev YM, Grumbach I, Sheffield VC, Strack S, Rahmouni K. The BBSome regulates mitochondria dynamics and function. Molecular Metabolism. 101654. PMID 36513220 DOI: 10.1016/j.molmet.2022.101654  0.482
2022 Carter CS, Huang SC, Searby CC, Cassaidy B, Miller MJ, Grzesik WJ, Piorczynski TB, Pak TK, Walsh SA, Acevedo M, Zhang Q, Mapuskar KA, Milne GL, Hinton AO, Guo DF, ... ... Sheffield VC, et al. Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes. Cell Metabolism. 34: 1893. PMID 36323238 DOI: 10.1016/j.cmet.2022.10.003  0.595
2022 Mayer SK, Thomas J, Helms M, Kothapalli A, Cherascu I, Salesevic A, Stalter E, Wang K, Datta P, Searby C, Seo S, Hsu Y, Bhattarai S, Sheffield VC, Drack AV. Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model. Disease Models & Mechanisms. 15. PMID 36125046 DOI: 10.1242/dmm.049473  0.317
2022 Stubbs T, Koemeter-Cox A, Bingman JI, Zhao F, Kalyanasundaram A, Rowland LA, Periasamy M, Carter CS, Sheffield VC, Askwith CC, Mykytyn K. Disruption of dopamine receptor 1 localization to primary cilia impairs signaling in striatal neurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 35882560 DOI: 10.1523/JNEUROSCI.0497-22.2022  0.501
2022 Huang SC, Pak TK, Graber CP, Searby CC, Liu G, Marcy J, Yaszemski AK, Bedell K, Bui E, Perlman S, Zhang Q, Wang K, Sheffield VC, Carter CS. An open source and convenient method for the wide-spread testing of COVID-19 using deep throat sputum samples. Peerj. 10: e13277. PMID 35573180 DOI: 10.7717/peerj.13277  0.446
2021 Pak TK, Carter CS, Zhang Q, Huang SC, Searby C, Hsu Y, Taugher RJ, Vogel T, Cychosz CC, Genova R, Moreira NN, Stevens H, Wemmie JA, Pieper AA, Wang K, ... Sheffield VC, et al. A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment. Plos Genetics. 17: e1009484. PMID 33886537 DOI: 10.1371/journal.pgen.1009484  0.524
2021 Carter CS, Huang S, Searby C, Cassaidy B, Miller M, Grzesik W, Piorczynski TB, Pak TK, Walsh S, Acevedo M, Zhang Q, Mapuskar K, Milne G, Hinton AO, Guo DF, ... ... Sheffield VC, et al. Response to: An alternative hypothesis for why exposure to static magnetic and electric fields treats type 2 diabetes. American Journal of Physiology. Endocrinology and Metabolism. PMID 33843283 DOI: 10.1152/ajpendo.00119.2021  0.598
2021 Carter CS, Huang S, Searby C, Cassaidy B, Miller M, Grzesik W, Piorczynski TB, Pak TK, Walsh S, Acevedo M, Zhang Q, Mapuskar K, Milne G, Hinton AO, Guo DF, ... ... Sheffield VC, et al. Counterpoint regarding an alternative hypothesis for why exposure to static magnetic and electric fields treat type 2 diabetes. American Journal of Physiology. Endocrinology and Metabolism. PMID 33843282 DOI: 10.1152/ajpendo.00110.2021  0.597
2020 Carter CS, Huang SC, Searby CC, Cassaidy B, Miller MJ, Grzesik WJ, Piorczynski TB, Pak TK, Walsh SA, Acevedo M, Zhang Q, Mapuskar KA, Milne GL, Hinton AO, Guo DF, ... ... Sheffield VC, et al. Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes. Cell Metabolism. 32: 1076. PMID 33264599 DOI: 10.1016/j.cmet.2020.11.001  0.595
2020 Carter CS, Huang SC, Searby CC, Cassaidy B, Miller MJ, Grzesik WJ, Piorczynski TB, Pak TK, Walsh SA, Acevedo M, Zhang Q, Mapuskar KA, Milne GL, Hinton AO, Guo DF, ... ... Sheffield VC, et al. Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes. Cell Metabolism. 32: 561-574.e7. PMID 33027675 DOI: 10.1016/j.cmet.2020.09.012  0.618
2020 Arafat M, Harlev A, Har-Vardi I, Levitas E, Priel T, Gershoni M, Searby C, Sheffield VC, Lunenfeld E, Parvari R. Mutation in (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics. Journal of Medical Genetics. PMID 32503832 DOI: 10.1136/Jmedgenet-2019-106825  0.3
2020 Hsu Y, Garrison JE, Seo S, Sheffield VC. The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina. Scientific Reports. 10: 8321. PMID 32433491 DOI: 10.1038/S41598-020-65233-4  0.346
2019 Guo DF, Lin Z, Wu Y, Searby C, Thedens DR, Richerson GB, Usachev YM, Grobe JL, Sheffield VC, Rahmouni K. The BBSome in POMC and AgRP Neurons is Necessary for Body Weight Regulation and Sorting of Metabolic Receptors. Diabetes. PMID 31127052 DOI: 10.2337/Db18-1088  0.504
2019 Singh M, Garrison JE, Wang K, Sheffield VC. Absence of BBSome function leads to astrocyte reactivity in the brain. Molecular Brain. 12: 48. PMID 31072410 DOI: 10.1186/S13041-019-0466-Z  0.338
2019 Uytingco CR, Williams CL, Xie C, Shively DT, Green WW, Ukhanov K, Zhang L, Nishimura DY, Sheffield VC, Martens JR. BBS4 is required for IFT coordination and basal body number in mammalian olfactory cilia. Journal of Cell Science. PMID 30665891 DOI: 10.1242/Jcs.222331  0.309
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  0.397
2018 Sheffield ID, McGee MA, Glenn SJ, Baek DY, Coleman JM, Dorius BK, Williams C, Rose BJ, Sanchez AE, Goodman MA, Daines JM, Eggett DL, Sheffield VC, Suli A, Kooyman DL. Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation. Frontiers in Physiology. 9: 708. PMID 29971011 DOI: 10.3389/Fphys.2018.00708  0.324
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  0.631
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 DOI: 10.18103/Mra.V5I9.1526  0.444
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  0.409
2017 Jain A, Zode G, Kasetti RB, Ran FA, Yan W, Sharma TP, Bugge K, Searby CC, Fingert JH, Zhang F, Clark AF, Sheffield VC. CRISPR-Cas9-based treatment of myocilin-associated glaucoma. Proceedings of the National Academy of Sciences of the United States of America. PMID 28973933 DOI: 10.1073/Pnas.1706193114  0.347
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  0.765
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  0.326
2017 Arafat M, Har-Vardi I, Harlev A, Levitas E, Zeadna A, Abofoul-Azab M, Dyomin V, Sheffield VC, Lunenfeld E, Huleihel M, Parvari R. Mutation in TDRD9 causes non-obstructive azoospermia in infertile men. Journal of Medical Genetics. PMID 28536242 DOI: 10.1136/Jmedgenet-2017-104514  0.341
2017 Williams CL, Uytingco CR, Green WW, McIntyre JC, Ukhanov K, Zimmerman AD, Shively DT, Zhang L, Nishimura DY, Sheffield VC, Martens JR. Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 28237838 DOI: 10.1016/J.Ymthe.2017.02.006  0.347
2016 Zhu W, Gramlich OW, Laboissonniere L, Jain A, Sheffield VC, Trimarchi JM, Tucker BA, Kuehn MH. Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo. Proceedings of the National Academy of Sciences of the United States of America. PMID 27274060 DOI: 10.1073/Pnas.1604153113  0.313
2016 Kawasaki M, Izu Y, Hayata T, Ideno H, Nifuji A, Sheffield VC, Ezura Y, Noda M. Bardet-Biedl Syndrome 3 regulates development of cranial base midline structures. Bone. PMID 27170093 DOI: 10.1016/J.Bone.2016.02.017  0.37
2016 Reish O, Aspit L, Zouella A, Roth Y, Polak-Charcon S, Baboushkin T, Benyamini L, Scheetz TE, Mussaffi H, Sheffield VC, Parvari R. A Homozygous Nme7 Mutation is Associated with Situs Inversus Totalis. Human Mutation. PMID 27060491 DOI: 10.1002/Humu.22998  0.435
2016 Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, ... ... Sheffield V, et al. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. Plos Genetics. 12: e1005963. PMID 27058611 DOI: 10.1371/Journal.Pgen.1005963  0.42
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  0.382
2016 Guo DF, Cui H, Zhang Q, Morgan DA, Thedens DR, Nishimura D, Grobe JL, Sheffield VC, Rahmouni K. The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane. Plos Genetics. 12: e1005890. PMID 26926121 DOI: 10.1371/Journal.Pgen.1005890  0.596
2015 Muhammad E, Levitas A, Singh SR, Braiman A, Ofir R, Etzion S, Sheffield VC, Etzion Y, Carrier L, Parvari R. PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction. Human Molecular Genetics. PMID 26464484 DOI: 10.1093/Hmg/Ddv423  0.424
2015 Haziza S, Magnani R, Lan D, Keinan O, Saada A, Hershkovitz E, Yanay N, Cohen Y, Nevo Y, Houtz RL, Sheffield VC, Golan H, Parvari R. Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. Plos Genetics. 11: e1005388. PMID 26247364 DOI: 10.1371/Journal.Pgen.1005388  0.347
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  0.363
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  0.669
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  0.604
2014 Heymsfield SB, Avena NM, Baier L, Brantley P, Bray GA, Burnett LC, Butler MG, Driscoll DJ, Egli D, Elmquist J, Forster JL, Goldstone AP, Gourash LM, Greenway FL, Han JC, ... ... Sheffield V, et al. Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia. Obesity (Silver Spring, Md.). 22: S1-S17. PMID 24574081 DOI: 10.1002/Oby.20646  0.307
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  0.743
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  0.459
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  0.402
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  0.4
2013 Seo S, Mullins RF, Dumitrescu AV, Bhattarai S, Gratie D, Wang K, Stone EM, Sheffield V, Drack AV. Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. Investigative Ophthalmology & Visual Science. 54: 6118-32. PMID 23900607 DOI: 10.1167/Iovs.13-11673  0.344
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  0.611
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  0.805
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  0.318
2013 Tee MK, Abramsohn M, Loewenthal N, Harris M, Siwach S, Kaplinsky A, Markus B, Birk O, Sheffield VC, Parvari R, Pavari R, Hershkovitz E, Miller WL. Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. The Journal of Clinical Endocrinology and Metabolism. 98: 713-20. PMID 23337730 DOI: 10.1210/Jc.2012-2828  0.333
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  0.536
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  0.342
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  0.42
2012 Nimmakayalu M, Noble N, Horton VK, Willing M, Copeland S, Sheffield V, Nagy PL, Wassink T, Patil S, Shchelochkov OA. 2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster. American Journal of Medical Genetics. Part A. 158: 2767-74. PMID 23023937 DOI: 10.1002/Ajmg.A.35362  0.338
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  0.377
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  0.331
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  0.469
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  0.371
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  0.326
2012 Groth CL, Buffard V, Morcuende J, Sheffield VC. Mutation screening of muscle development genes in patients with idiopathic clubfoot Open Journal of Genetics. 2: 83-87. DOI: 10.4236/Ojgen.2012.22011  0.409
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  0.638
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  0.758
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  0.366
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  0.371
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  0.385
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  0.388
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  0.322
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 Nimmakayalu M, Major H, Sheffield V, Solomon DH, Smith RJ, Patil SR, Shchelochkov OA. Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension. American Journal of Medical Genetics. Part A. 155: 418-23. PMID 21271665 DOI: 10.1002/Ajmg.A.33827  0.39
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  0.475
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  0.425
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  0.369
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  0.69
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  0.332
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  0.389
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  0.707
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  0.325
2010 Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. European Journal of Human Genetics : Ejhg. 18: 1160-5. PMID 20551992 DOI: 10.1038/Ejhg.2010.83  0.399
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  0.455
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  0.389
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  0.787
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  0.447
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  0.446
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  0.321
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  0.322
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  0.345
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  0.432
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  0.587
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  0.335
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  0.307
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  0.463
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  0.812
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  0.302
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  0.386
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  0.306
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  0.396
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  0.578
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  0.412
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  0.309
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  0.421
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  0.377
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  0.336
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  0.637
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  0.396
2007 Gao X, Gordon D, Zhang D, Browne R, Helms C, Gillum J, Weber S, Devroy S, Swaney S, Dobbs M, Morcuende J, Sheffield V, Lovett M, Bowcock A, Herring J, et al. CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. American Journal of Human Genetics. 80: 957-65. PMID 17436250 DOI: 10.1086/513571  0.302
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  0.378
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  0.313
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  0.427
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  0.443
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  0.411
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  0.399
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  0.42
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  0.802
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  0.812
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  0.408
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  0.464
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  0.464
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  0.329
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  0.807
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  0.407
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  0.462
2005 Bomar JM, Benke PJ, Slattery EL, Puttagunta R, Taylor LP, Seong E, Nystuen A, Chen W, Albin RL, Patel PD, Kittles RA, Sheffield VC, Burmeister M. Erratum: Corrigendum: Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse Nature Genetics. 37: 555-555. DOI: 10.1038/Ng0505-555B  0.316
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  0.409
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  0.425
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  0.388
2004 Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). American Journal of Human Genetics. 75: 475-84. PMID 15258860 DOI: 10.1086/423903  0.433
2004 Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Human Molecular Genetics. 13: 1893-902. PMID 15229190 DOI: 10.1093/Hmg/Ddh198  0.376
2004 Mykytyn K, Mullins RF, Andrews M, Chiang AP, Swiderski RE, Yang B, Braun T, Casavant T, Stone EM, Sheffield VC. 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. 101: 8664-9. PMID 15173597 DOI: 10.1073/Pnas.0402354101  0.466
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  0.475
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  0.409
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/Sj.Mp.4001503  0.385
2003 Bomar JM, Benke PJ, Slattery EL, Puttagunta R, Taylor LP, Seong E, Nystuen A, Chen W, Albin RL, Patel PD, Kittles RA, Sheffield VC, Burmeister M. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nature Genetics. 35: 264-9. PMID 14556008 DOI: 10.1038/Ng1255  0.433
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  0.38
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  0.366
2003 Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL. A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. American Journal of Ophthalmology. 135: 368-75. PMID 12614756 DOI: 10.1016/S0002-9394(02)02061-5  0.427
2003 Donoso LA, Hageman G, Frost A, Sheffield V, Beck J, Hébert M, MacDonald IM. Autosomal dominant macular dystrophy in a large Canadian family. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 38: 33-40. PMID 12608515 DOI: 10.1016/S0008-4182(03)80006-6  0.339
2003 Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, ... ... Sheffield VC, et al. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). American Journal of Human Genetics. 72: 429-37. PMID 12524598 DOI: 10.1086/346172  0.48
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  0.337
2003 Pinto LH, Grabowski N, Kibbe WA, Lotery A, Lumayag S, Mullens R, Stone E, Siepka S, Vitatema MH, Sheffield V, Takahashi JS. Chemically Induced Mutations in the Mouse that Affect the Fundus and Electroretinogram The Keio Journal of Medicine. 51: 188-189. DOI: 10.1007/978-4-431-68447-3_66  0.333
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  0.411
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  0.315
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 DOI: 10.1001/Archopht.120.10.1364  0.428
2002 Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM. Variations in the myocilin gene in patients with open-angle glaucoma. Archives of Ophthalmology (Chicago, Ill. : 1960). 120: 1189-97. PMID 12215093 DOI: 10.1001/Archopht.120.9.1189  0.342
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  0.707
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  0.396
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  0.491
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 DOI: 10.1001/Archopht.120.3.376  0.437
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 DOI: 10.1097/00061198-200202000-00010  0.443
2001 Sheffield VC. Homozygosity mapping using pooled DNA Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. PMID 18428233 DOI: 10.1002/0471142905.Hg0111S13  0.319
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 DOI: 10.1097/00061198-200112000-00007  0.429
2001 Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Human Molecular Genetics. 10: 2415-23. PMID 11689488 DOI: 10.1093/Hmg/10.21.2415  0.401
2001 Stone EM, Sheffield VC, Hageman GS. Molecular genetics of age-related macular degeneration. Human Molecular Genetics. 10: 2285-92. PMID 11673412 DOI: 10.1093/Hmg/10.20.2285  0.394
2001 Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, et al. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics. 77: 105-13. PMID 11543639 DOI: 10.1006/Geno.2001.6617  0.383
2001 Wassink TH, Piven J, Vieland VJ, Huang J, Swiderski RE, Pietila J, Braun T, Beck G, Folstein SE, Haines JL, Sheffield VC. Evidence supporting WNT2 as an autism susceptibility gene. American Journal of Medical Genetics. 105: 406-13. PMID 11449391 DOI: 10.1002/Ajmg.1401  0.421
2001 Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, ... ... Sheffield VC, et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nature Genetics. 28: 188-91. PMID 11381270 DOI: 10.1038/88925  0.475
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  0.416
2001 Guymer RH, Héon E, Lotery AJ, Munier FL, Schorderet DF, Baird PN, McNeil RJ, Haines H, Sheffield VC, Stone EM. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Archives of Ophthalmology (Chicago, Ill. : 1960). 119: 745-51. PMID 11346402 DOI: 10.1001/Archopht.119.5.745  0.361
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  0.377
2001 Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, ... ... Sheffield VC, et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Human Molecular Genetics. 10: 865-74. PMID 11285252 DOI: 10.1093/Hmg/10.8.865  0.458
2001 Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P, Héon E, Levin AV, Grover S, Rosenow JR, Kopp KK, Sheffield VC, Stone EM. Mutations in the CRB1 gene cause Leber congenital amaurosis. Archives of Ophthalmology (Chicago, Ill. : 1960). 119: 415-20. PMID 11231775 DOI: 10.1001/Archopht.119.3.415  0.412
2001 Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC. 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. 68: 364-72. PMID 11170889 DOI: 10.1086/318183  0.422
2001 Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, Alward WL, Stone EM, Clark AF, Sheffield VC. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Human Molecular Genetics. 10: 117-25. PMID 11152659 DOI: 10.1093/Hmg/10.2.117  0.373
2000 Miano MG, Jacobson SG, Carothers A, Hanson I, Teague P, Lovell J, Cideciyan AV, Haider N, Stone EM, Sheffield VC, Wright AF. Pitfalls in homozygosity mapping. American Journal of Human Genetics. 67: 1348-51. PMID 11007652 DOI: 10.1016/S0002-9297(07)62966-8  0.369
2000 Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Mutations in MKKS cause Bardet-Biedl syndrome. Nature Genetics. 26: 15-6. PMID 10973238 DOI: 10.1038/79116  0.451
2000 Sheffield VC. The vision of Typhoon Lengkieki Nature Medicine. 6: 746-747. PMID 10888918 DOI: 10.1038/77465  0.339
2000 Scott DA, Sheffield VC. DFNB11. Advances in Oto-Rhino-Laryngology. 56: 168-70. PMID 10868230  0.465
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 DOI: 10.1093/Hmg/9.11.1709  0.583
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  0.593
2000 Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, ... Sheffield VC, et al. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Archives of Ophthalmology (Chicago, Ill. : 1960). 118: 538-43. PMID 10766140 DOI: 10.1001/Archopht.118.4.538  0.388
2000 Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, ... ... Sheffield VC, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nature Genetics. 24: 127-31. PMID 10655056 DOI: 10.1038/72777  0.374
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  0.328
2000 Sheffield VC, Ying L, Carmi R, Landau D. Reply to Buddles et al. The American Journal of Human Genetics. 66: 1722. DOI: 10.1086/302880  0.3
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 DOI: 10.1136/Jmg.36.11.862  0.45
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 DOI: 10.1076/Opge.20.4.243.2273  0.321
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 DOI: 10.1001/Archopht.117.12.1630  0.412
1999 Barrett S, Beck JC, Bernier R, Bisson E, Braun TA, Casavant TL, Childress D, Folstein SE, Garcia M, Gardiner MB, Gilman S, Haines JL, Hopkins K, Landa R, Meyer NH, ... ... Sheffield V, et al. An autosomal genomic screen for autism. Collaborative linkage study of autism. American Journal of Medical Genetics. 88: 609-15. PMID 10581478 DOI: 10.1002/(SICI)1096-8628(19991215)88:6<609::AID-AJMG7>3.0.CO;2-L  0.341
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  0.474
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  0.468
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  0.324
1999 Gorman SW, Haider NB, Grieshammer U, Swiderski RE, Kim E, Welch JW, Searby C, Leng S, Carmi R, Sheffield VC, Duhl DM. The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23. Genomics. 59: 150-60. PMID 10409426 DOI: 10.1006/Geno.1999.5867  0.471
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 DOI: 10.1101/Gr.9.6.568  0.369
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  0.523
1999 Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy Nature Genetics. 22: 199-202. PMID 10369267 DOI: 10.1038/9722  0.457
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  0.319
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  0.488
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  0.443
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  0.305
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  0.358
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  0.613
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  0.357
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  0.389
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  0.601
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 DOI: 10.1101/Gr.8.4.377  0.376
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  0.404
1998 Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF, Junqua D, Durcan FJ, McCartney PJ, Mackey DA, Sheffield VC, Stone EM. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) The New England Journal of Medicine. 338: 1022-7. PMID 9535666 DOI: 10.1056/Nejm199804093381503  0.316
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  0.452
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  0.582
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 DOI: 10.3109/13816819709041432  0.411
1997 Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genetics. 17: 411-22. PMID 9398842 DOI: 10.1038/ng1297-411  0.324
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-#  0.462
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 DOI: 10.1001/Archopht.1997.01100160599013  0.401
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 DOI: 10.1101/Gr.7.9.879  0.489
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  0.578
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  0.55
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 DOI: 10.1093/Hmg/6.5.689  0.37
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  0.38
1997 Brown J, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) Archives of Ophthalmology (Chicago, Ill. : 1960). 115: 95-9. PMID 9006432 DOI: 10.1001/Archopht.1997.01100150097016  0.337
1997 Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science (New York, N.Y.). 275: 668-70. PMID 9005853 DOI: 10.1126/Science.275.5300.668  0.33
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  0.398
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 DOI: 10.3109/13816819609057891  0.436
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 DOI: 10.1006/Exer.1996.0152  0.408
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 DOI: 10.1093/Hmg/5.10.1689  0.594
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  0.344
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  0.336
1996 Gastier JM, Brody T, Pulido JC, Businga T, Sunden S, Hu X, Maitra S, Buetow KH, Murray JC, Sheffield VC, Boguski M, Duyk GM, Hudson TJ. Development of a screening set for new (CAG/CTG)n dynamic mutations Genomics. 32: 75-85. PMID 8786123 DOI: 10.1006/Geno.1996.0078  0.306
1996 O'Neill ME, Marietta J, Nishimura D, Wayne S, Van Camp G, Van Laer L, Negrini C, Wilcox ER, Chen A, Fukushima K, Ni L, Sheffield VC, Smith RJ. A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. Human Molecular Genetics. 5: 853-6. PMID 8776603 DOI: 10.1093/Hmg/5.6.853  0.414
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  0.506
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  0.325
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  0.376
1996 Héon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G, Schorderet D, Taylor CM, Streb LM, Wiles CD, Nishimura DY, Sheffield VC, Stone EM. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Archives of Ophthalmology (Chicago, Ill. : 1960). 114: 193-8. PMID 8573024 DOI: 10.1001/Archopht.1996.01100130187014  0.344
1996 Stone EM, Sheffield VC. Genetic approaches to human retinal disorders Investigative Ophthalmology and Visual Science. 37.  0.306
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.  0.31
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  0.394
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  0.329
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 DOI: 10.1016/S0161-6420(95)31029-9  0.41
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 DOI: 10.1016/S0002-9394(14)73815-2  0.416
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 DOI: 10.1093/Hmg/4.1.9  0.382
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  0.424
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 DOI: 10.1161/01.Cir.92.10.2803  0.344
1995 Héon E, Sheth BP, Kalenak JW, Sunden SL, Streb LM, Taylor CM, Alward WL, Sheffield VC, Stone EM. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Human Molecular Genetics. 4: 1435-9. PMID 7581385 DOI: 10.1093/Hmg/4.8.1435  0.425
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  0.471
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  0.348
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  0.304
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  0.358
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  0.316
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  0.357
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 DOI: 10.1016/S0161-6420(94)31156-0  0.419
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  0.39
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  0.303
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  0.403
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  0.436
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  0.337
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  0.325
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  0.403
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  0.389
1993 Stone EM, Vandenburgh K, Nichols BE, Sheffield VC. Identification of Rhodopsin Gene Mutations Using GC-Clamped Denaturing Gradient Gel Electrophoresis Methods in Neurosciences. 15: 377-392. DOI: 10.1016/B978-0-12-185279-5.50033-9  0.311
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  0.424
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  0.409
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  0.405
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  0.416
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  0.377
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  0.387
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  0.44
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  0.339
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 DOI: 10.1016/S0161-6420(91)32046-3  0.407
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 DOI: 10.1073/Pnas.88.17.7825  0.367
Low-probability matches (unlikely to be authored by this person)
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  0.299
1995 Sheffield VC, Weber JL, Buetow KH, Murray JC, Even DA, Wiles K, Gastier JM, Pulido JC, Yandava C, Sunden SL, Mattes G, Businga T, Mcclain A, Beck J, Scherpler T, et al. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps Human Molecular Genetics. 4: 1837-1844. PMID 8595404 DOI: 10.1093/Hmg/4.10.1837  0.298
2001 Kwitek AE, Tonellato PJ, Chen D, Gullings-Handley J, Cheng YS, Twigger S, Scheetz TE, Casavant TL, Stoll M, Nobrega MA, Shiozawa M, Soares MB, Sheffield VC, Jacob HJ. Automated construction of high-density comparative maps between rat, human, and mouse Genome Research. 11: 1935-1943. PMID 11691858 DOI: 10.1101/Gr.173701  0.297
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  0.297
2021 Cring MR, Meyer KJ, Searby CC, Hedberg-Buenz A, Cave M, Anderson MG, Wang K, Sheffield VC. Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model. Gene Therapy. PMID 33664503 DOI: 10.1038/s41434-021-00241-1  0.297
2021 Chandra B, Tung ML, Hsu Y, Scheetz T, Sheffield VC. Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future. Progress in Retinal and Eye Research. 101035. PMID 34929400 DOI: 10.1016/j.preteyeres.2021.101035  0.296
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  0.295
1998 Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nature Genetics. 19: 140-7. PMID 9620769 DOI: 10.1038/493  0.295
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  0.294
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. 105: 539-47. PMID 11496372 DOI: 10.1002/Ajmg.1497  0.293
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  0.292
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  0.291
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  0.291
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  0.29
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  0.29
1995 Vanagaite L, James MR, Rotman G, Savitsky K, Bar-Shira A, Gilad S, Ziv Y, Uchenik V, Sartiel A, Collins FS, Sheffield VC, Richard CW, Weissenbach J, Shiloh Y. A high-density microsatellite map of the ataxia-telangiectasia locus. Human Genetics. 95: 451-4. PMID 7705845 DOI: 10.1007/Bf00208975  0.29
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  0.288
2017 Zhu W, Jain A, Gramlich OW, Tucker BA, Sheffield VC, Kuehn MH. Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma. Investigative Ophthalmology & Visual Science. 58: 2054-2062. PMID 28384726 DOI: 10.1167/Iovs.16-20672  0.288
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  0.288
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  0.286
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  0.286
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  0.286
2015 Lu W, Hu H, Sévigny J, Gabelt BT, Kaufman PL, Johnson EC, Morrison JC, Zode GS, Sheffield VC, Zhang X, Laties AM, Mitchell CH. Rat, mouse, and primate models of chronic glaucoma show sustained elevation of extracellular ATP and altered purinergic signaling in the posterior eye. Investigative Ophthalmology & Visual Science. 56: 3075-83. PMID 26024091 DOI: 10.1167/Iovs.14-15891  0.284
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 DOI: 10.1093/Bioinformatics/18.9.1162  0.283
1998 Walder RY, Garrett MR, McClain AM, Beck GE, Brennan TM, Kramer NA, Kanis AB, Mark AL, Rapp JP, Sheffield VC. Short tandem repeat polymorphic markers for the rat genome from marker-selected libraries. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 9: 1013-21. PMID 9880670 DOI: 10.1007/S003359900917  0.283
1996 Sunden SL, Businga T, Beck J, McClain A, Gastier JM, Pulido JC, Yandava CN, Brody T, Ghazizadeh J, Weber JL, Duyk GM, Murray JC, Buetow KH, Sheffield VC. Chromosomal assignment of 2900 tri- and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2. Genomics. 32: 15-20. PMID 8786107 DOI: 10.1006/Geno.1996.0071  0.282
2022 Hsu Y, Bhattarai S, Thompson JM, Mahoney A, Thomas J, Mayer SK, Datta P, Garrison J, Searby CC, Vandenberghe LH, Seo S, Sheffield VC, Drack AV. Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model. Molecular Therapy. Nucleic Acids. 31: 164-181. PMID 36700052 DOI: 10.1016/j.omtn.2022.12.007  0.281
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  0.28
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  0.279
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  0.279
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  0.279
2004 Scheetz TE, Laffin JJ, Berger B, Holte S, Baumes SA, Brown R, Chang S, Coco J, Conklin J, Crouch K, Donohue M, Doonan G, Estes C, Eyestone M, Fishler K, ... ... Sheffield VC, et al. High-throughput gene discovery in the rat. Genome Research. 14: 733-41. PMID 15060017 DOI: 10.1101/Gr.1414204  0.277
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.  0.276
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.  0.275
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  0.275
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  0.274
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.  0.274
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  0.273
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  0.273
2004 Laffin JJ, Scheetz TE, Bonaldo Mde F, Reiter RS, Chang S, Eyestone M, Abdulkawy H, Brown B, Roberts C, Tack D, Kucaba T, Lin JJ, Sheffield VC, Casavant TL, Soares MB. A comprehensive nonredundant expressed sequence tag collection for the developing Rattus norvegicus heart. Physiological Genomics. 17: 245-52. PMID 14762174 DOI: 10.1152/Physiolgenomics.00186.2003  0.273
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  0.272
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  0.272
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  0.271
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  0.27
2001 Scheetz TE, Raymond MR, Nishimura DY, McClain A, Roberts C, Birkett C, Gardiner J, Zhang J, Butters N, Sun C, Kwitek-Black A, Jacob H, Casavant TL, Soares MB, Sheffield VC. Generation of a high-density rat EST map. Genome Research. 11: 497-502. PMID 11230173 DOI: 10.1101/Gr.151601  0.267
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  0.267
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  0.266
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  0.263
1997 Yandava CN, Gastier JM, Pulido JC, Brody T, Sheffield V, Murray J, Buetow K, Duyk GM. Characterization of Alu repeats that are associated with trinucleotide and tetranucleotide repeat microsatellites. Genome Research. 7: 716-24. PMID 9253600 DOI: 10.1101/Gr.7.7.716  0.261
2004 Morcuende JA, Minhas R, Dolan L, Stevens J, Beck J, Wang K, Weinstein SL, Sheffield V. Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis. Spine. 28: 2025-8; discussion 2. PMID 12973153 DOI: 10.1097/01.Brs.0000083235.74593.49  0.261
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  0.26
2004 Kwitek AE, Gullings-Handley J, Yu J, Carlos DC, Orlebeke K, Nie J, Eckert J, Lemke A, Andrae JW, Bromberg S, Pasko D, Chen D, Scheetz TE, Casavant TL, Soares MB, ... Sheffield VC, et al. 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. 14: 750-7. PMID 15060019 DOI: 10.1101/Gr.1968704  0.257
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/Sj.Mp.4001616  0.252
1995 Héon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, Taylor CM, Krachmer JH, Sheffield VC, Stone EM. Linkage of posterior polymorphous corneal dystrophy to 20q11. Human Molecular Genetics. 4: 485-8. PMID 7795607 DOI: 10.1093/Hmg/4.3.485  0.252
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  0.247
1999 Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, ... ... Sheffield VC, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Human Molecular Genetics. 8: 899-905. PMID 10196380 DOI: 10.1093/Hmg/8.5.899  0.247
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  0.246
2003 Scheetz TE, Trivedi N, Roberts CA, Kucaba T, Berger B, Robinson NL, Birkett CL, Gavin AJ, O'Leary B, Braun TA, Bonaldo MF, Robinson JP, Sheffield VC, Soares MB, Casavant TL. ESTprep: preprocessing cDNA sequence reads. Bioinformatics (Oxford, England). 19: 1318-24. PMID 12874042 DOI: 10.1093/Bioinformatics/Btg159  0.245
2011 Peterson D, Weipert D, Airmet K, Killingsworth S, Klein M, Beardsley T, Bridgewater L, Seegmiller R, Morcuende J, Kooyman D, Sheffield V. 120 PREMATURE OSTEOARTHRITIS IN THE TEMPOROMANDIBULAR AND KNEE JOINTS OF BARDET-BIEDLE SYNDROME MICE Osteoarthritis and Cartilage. 19: S62. DOI: 10.1016/S1063-4584(11)60147-7  0.244
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.  0.242
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  0.241
2002 Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG. 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. 99: 473-8. PMID 11773633 DOI: 10.1073/Pnas.022533099  0.24
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  0.239
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.  0.238
2014 Beckel JM, Argall AJ, Lim JC, Xia J, Lu W, Coffey EE, Macarak EJ, Shahidullah M, Delamere NA, Zode GS, Sheffield VC, Shestopalov VI, Laties AM, Mitchell CH. Mechanosensitive release of adenosine 5'-triphosphate through pannexin channels and mechanosensitive upregulation of pannexin channels in optic nerve head astrocytes: a mechanism for purinergic involvement in chronic strain. Glia. 62: 1486-501. PMID 24839011 DOI: 10.1002/Glia.22695  0.233
2021 Xie C, Habif JC, Uytingco CR, Ukhanov K, Zhang L, de Celis C, Sheffield VC, Martens JR. Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl syndrome. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 35: e21766. PMID 34383976 DOI: 10.1096/fj.202100627R  0.233
2024 Patil SV, Kaipa BR, Ranshing S, Sundaresan Y, Millar JC, Nagarajan B, Kiehlbauch C, Zhang Q, Jain A, Searby CC, Scheetz TE, Clark AF, Sheffield VC, Zode GS. Lentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucoma. Scientific Reports. 14: 6958. PMID 38521856 DOI: 10.1038/s41598-024-57286-6  0.23
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  0.229
2016 Sheffield I, Nelson M, Baek D, Coleman J, Glenn S, Dorius B, Sanchez A, Williams C, Rose B, Sheffield V, Kooyman D. The role of chondrocyte primary cilia in osteoarthritis Osteoarthritis and Cartilage. 24: S336. DOI: 10.1016/J.Joca.2016.01.603  0.224
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 DOI: 10.1101/Gr.6.9.862  0.223
2023 Patil SV, Kaipa BR, Ranshing S, Sundaresan Y, Millar JC, Nagarajan B, Kiehlbauch C, Zhang Q, Jain A, Searby CC, Scheetz TE, Clark AF, Sheffield VC, Zode GS. Lentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucoma. Research Square. PMID 38196579 DOI: 10.21203/rs.3.rs-3740880/v1  0.221
2021 van der Heide C, Goar W, Meyer KJ, Alward WLM, Boese EA, Sears NC, Roos BR, Kwon YH, DeLuca AP, Siggs OM, Gonzaga-Jauregui C, Sheffield VC, Wang K, Stone EM, Mullins RF, et al. Exome-based investigation of the genetic basis of human pigmentary glaucoma. Bmc Genomics. 22: 477. PMID 34174832 DOI: 10.1186/s12864-021-07782-0  0.22
2021 Hsu Y, Seo S, Sheffield VC. Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome. Human Molecular Genetics. PMID 33517424 DOI: 10.1093/hmg/ddaa284  0.217
2002 Walder RY, Landau D, Meyer P, Shalev H, Tsolia M, Borochowitz Z, Boettger MB, Beck GE, Englehardt RK, Carmi R, Sheffield VC. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nature Genetics. 31: 171-4. PMID 12032570 DOI: 10.1038/ng901  0.214
1992 Buetow KH, Sheffield VC, Zhu M, Zhou T, Shen FUM, Hino O, Smith M, Mcmahon BJ, Lanier AP, Thomas London W, Redeker AG, Govindarajan S. 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. 89: 9622-9626. PMID 1329103 DOI: 10.1073/pnas.89.20.9622  0.211
2007 Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, ... ... Sheffield V, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics. 39: 319-28. PMID 17322880 DOI: 10.1038/Ng1985  0.209
2020 Falls-Hubert KC, Butler AL, Gui K, Anderson M, Li M, Stolwijk JM, Rodman SN, Solst SR, Tomanek-Chalkley A, Searby CC, Sheffield VC, Sandfort V, Schmidt H, McCormick M, Wels BR, et al. Disulfiram causes selective hypoxic cancer cell toxicity and radio-chemo-sensitization via redox cycling of copper. Free Radical Biology & Medicine. PMID 32032663 DOI: 10.1016/J.Freeradbiomed.2020.01.186  0.206
2021 Kasetti RB, Maddineni P, Kiehlbauch CC, Patil S, Searby CC, Levine B, Sheffield VC, Zode GS. Autophagy stimulation reduces ocular hypertension in murine glaucoma model via autophagic degradation of mutant myocilin. Jci Insight. PMID 33539326 DOI: 10.1172/jci.insight.143359  0.205
2010 Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, ... ... Sheffield VC, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466: 368-72. PMID 20531469 DOI: 10.1038/Nature09146  0.204
2003 Ho B, Wassink T, Andreasen N, Sheffield V. The role of COMT V158M polymorphism on WCST performance and frontal lobe morphology in schizophrenia Schizophrenia Research. 60: 82. DOI: 10.1016/S0920-9964(03)80629-1  0.204
2001 Clark AF, Kawase K, English-Wright S, Lane D, Steely HT, Yamamoto T, Kitazawa Y, Kwon YH, Fingert JH, Swiderski RE, Mullins RF, Hageman GS, Alward WL, Sheffield VC, Stone EM. Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 15: 1251-3. PMID 11344104 DOI: 10.1096/Fj.00-0663Fje  0.201
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  0.199
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  0.198
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  0.196
2003 Alward WL, Kwon YH, Kawase K, Craig JE, Hayreh SS, Johnson AT, Khanna CL, Yamamoto T, Mackey DA, Roos BR, Affatigato LM, Sheffield VC, Stone EM. Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. American Journal of Ophthalmology. 136: 904-10. PMID 14597044 DOI: 10.1016/S0002-9394(03)00577-4  0.193
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  0.193
2020 Cring MR, Sheffield VC. Gene therapy and gene correction: targets, progress, and challenges for treating human diseases. Gene Therapy. PMID 33037407 DOI: 10.1038/s41434-020-00197-8  0.188
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.  0.185
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  0.177
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  0.177
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  0.173
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.  0.172
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  0.166
1994 Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Manion F, Quillen J, Sheffield VC, Sunden S, Duyk GM, Weissenbach J, Gyapay G, Dib C, Morrissette J, Lathrop GM, et al. A comprehensive human linkage map with centimorgan density Science. 265: 2049-2054. PMID 8091227 DOI: 10.1126/science.8091227  0.166
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  0.161
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  0.16
1982 Upholt WB, Kravis D, Sandell L, Sheffield VC, Dorfman A. Gene expression during chick limb cartilage differentiation Progress in Clinical and Biological Research. 110: 175-182. PMID 7167570  0.159
2010 Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, ... ... Sheffield VC, et al. A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics. 19: 4072-82. PMID 20663923 DOI: 10.1093/Hmg/Ddq307  0.156
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  0.15
2020 Kasetti RB, Patel PD, Maddineni P, Patil S, Kiehlbauch C, Millar JC, Searby CC, Raghunathan V, Sheffield VC, Zode GS. ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load. Nature Communications. 11: 5594. PMID 33154371 DOI: 10.1038/s41467-020-19352-1  0.15
2020 Kesavan K, Mohan P, Gautam N, Sheffield VC. Topical Ocular Delivery of Nanocarriers: A Feasible Choice for Glaucoma Management. Current Pharmaceutical Design. PMID 32938345 DOI: 10.2174/1381612826666200916145609  0.148
2022 McDowell CM, Kizhatil K, Elliott MH, Overby DR, van Batenburg-Sherwood J, Millar JC, Kuehn MH, Zode G, Acott TS, Anderson MG, Bhattacharya SK, Bertrand JA, Borras T, Bovenkamp DE, Cheng L, ... ... Sheffield VC, et al. Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms. Investigative Ophthalmology & Visual Science. 63: 12. PMID 35129590 DOI: 10.1167/iovs.63.2.12  0.146
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  0.14
2002 Trivedi N, Bischof J, Davis S, Pedretti K, Scheetz TE, Braun TA, Roberts CA, Robinson NL, Sheffield VC, Soares MB, Casavant TL. Parallel creation of non-redundant gene indices from partial mRNA transcripts Future Generation Computer Systems. 18: 863-870. DOI: 10.1016/S0167-739X(02)00059-6  0.137
1985 Sheffield VC, Upholt WB. Copy number of the chicken type II procollagen gene Collagen and Related Research. 5: 1-8. PMID 2983927  0.137
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.  0.136
1998 Heon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G, Schorderet D, Taylor CM, Streb LM, Wiles CD, Nishimura DY, Sheffield VC, Stone EM. Linkage of Autosomal Dominant Radial Drusen (Malattia Leventinese) to Chromosome p 16–21 Retina. 18: 191. DOI: 10.1097/00006982-199818020-00030  0.135
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 DOI: 10.1073/Pnas.86.1.232  0.135
2015 Zode GS, Kuehn MH, Nishimura DY, Searby CC, Mohan K, Grozdanic SD, Bugge K, Anderson MG, Clark AF, Stone EM, Sheffield VC. Corrigendum: Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma (J Clin Investigation (2011) 121, 9 (3542-3553) DOI: 10.1172/JCI82799) Journal of Clinical Investigation. 125: 3303. DOI: 10.1172/JCI82799  0.134
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  0.13
2017 Haines JL, Sheffield VC. The molecular genetics of eye diseases. Human Molecular Genetics. 26: R1. PMID 28854578 DOI: 10.1093/hmg/ddx222  0.123
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  0.123
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  0.119
2018 Kasetti RB, Maddineni P, Patel P, Searby C, Sheffield VC, Zode GS. Transforming growth factor β2 (TGFβ2) signaling plays a key role in glucocorticoid-induced ocular hypertension. The Journal of Biological Chemistry. PMID 29743238 DOI: 10.1074/jbc.RA118.002540  0.112
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  0.11
2011 Sheffield VC, Stone EM. Genomics and the eye. The New England Journal of Medicine. 364: 1932-42. PMID 21591945 DOI: 10.1056/Nejmra1012354  0.108
1994 Buetow KH, Ludwigsen S, Scherpbier-Heddema T, Quillen J, Murray JC, Sheffield VC, Duyk GM, Weber JL, Weissenbach J, Gyapay G. Human genetic map. Genome maps V. Wall chart Science. 265: 2055-2070. PMID 8091228  0.107
2020 Justice CM, Cuellar A, Bala K, Sabourin JA, Cunningham ML, Crawford K, Phipps JM, Zhou Y, Cilliers D, Byren JC, Johnson D, Wall SA, Morton JEV, Noons P, Sweeney E, ... ... Sheffield VC, et al. A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis. Human Genetics. PMID 32266521 DOI: 10.1007/S00439-020-02157-Z  0.103
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.  0.1
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  0.096
1980 Sheffield VC, Seegmiller RE. Impaired energy metabolism as an initial step in the mechanism for 6-aminonicotinamide-induced limb malformation Journal of Embryology and Experimental Morphology. 217-222. PMID 6452487  0.074
2011 DeLuca AP, Wagner AH, Taylor KR, Faga B, Thole D, Sheffield VC, Stone EM, Casavant TL, Scheetz TE, Braun TA. Sequencing and disease variation detection tools and techniques Proceedings of Ieee/Acs International Conference On Computer Systems and Applications, Aiccsa. 80-83. DOI: 10.1109/AICCSA.2011.6126607  0.066
1982 Vuorio E, Sandell L, Kravis D, Sheffield VC, Vuorio T, Dorfman A, Upholt WB. Construction and partial characterization of two recombinant cDNA clones for procollagen from chicken cartilage Nucleic Acids Research. 10: 1175-1192. PMID 6280134 DOI: 10.1093/Nar/10.4.1175  0.059
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  0.04
2018 Sheffield VC. A 30-Mile-per-Hour Headwind. Jama. 320: 33-34. PMID 29971401 DOI: 10.1001/jama.2018.8191  0.01
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