| 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 |
0.505 |
|
| 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 |
0.483 |
|
| 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 |
0.596 |
|
| 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 |
0.596 |
|
| 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 |
0.505 |
|
| 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 |
0.597 |
|
| 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 |
0.605 |
|
| 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 |
0.639 |
|
| 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 |
0.323 |
|
| 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 |
0.579 |
|
| 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 |
0.638 |
|
| 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 |
0.466 |
|
| 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 |
0.489 |
|
| 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 |
0.602 |
|
| 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 |
|
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