Val C. Sheffield, M.D., Ph.D.
Val C. Sheffield, M.D., Ph.D.
Investigator, Howard Hughes Medical Institute, Professor of Pediatrics, University of Iowa
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Cited by
Cited by
Functional impact of global rare copy number variation in autism spectrum disorders
D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ...
Nature 466 (7304), 368-372, 2010
Identification of a gene that causes primary open angle glaucoma
EM Stone, JH Fingert, WLM Alward, TD Nguyen, JR Polansky, ...
Science 275 (5300), 668-670, 1997
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.
VC Sheffield, DR Cox, LS Lerman, RM Myers
Proceedings of the National Academy of Sciences 86 (1), 232-236, 1989
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature genetics 39 (3), 319-328, 2007
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
MV Nachury, AV Loktev, Q Zhang, CJ Westlake, J Peränen, A Merdes, ...
Cell 129 (6), 1201-1213, 2007
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
LA Everett, B Glaser, JC Beck, JR Idol, A Buchs, M Heyman, F Adawi, ...
Nature genetics 17 (4), 411-422, 1997
Comprehensive human genetic maps: individual and sex-specific variation in recombination
KW Broman, JC Murray, VC Sheffield, RL White, JL Weber
The American Journal of Human Genetics 63 (3), 861-869, 1998
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
VC Sheffield, JS Beck, AE Kwitek, DW Sandstrom, EM Stone
Genomics 16 (2), 325-332, 1993
A genome-wide linkage and association scan reveals novel loci for autism
LA Weiss, DE Arking, ...
Nature 461 (7265), 802-808, 2009
The Pendred syndrome gene encodes a chloride-iodide transport protein
DA Scott, R Wang, TM Kreman, VC Sheffield, LP Karniski
Nature genetics 21 (4), 440-443, 1999
A genome-wide scan for common alleles affecting risk for autism
R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ...
Human molecular genetics 19 (20), 4072-4082, 2010
A comprehensive human linkage map with centimorgan density
JC Murray, KH Buetow, JL Weber, S Ludwigsen, T Scherpbier-Heddema, ...
Science 265 (5181), 2049-2054, 1994
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
JH Fingert, E Héon, JM Liebmann, T Yamamoto, JE Craig, J Rait, ...
Human molecular genetics 8 (5), 899-905, 1999
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia
RY Walder, D Landau, P Meyer, H Shalev, M Tsolia, Z Borochowitz, ...
Nature genetics 31 (2), 171-174, 2002
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
L Sang, JJ Miller, KC Corbit, RH Giles, MJ Brauer, EA Otto, LM Baye, ...
Cell 145 (4), 513-528, 2011
Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31
VC Sheffield, EM Stone, WLM Alward, AV Drack, AT Johnson, LM Streb, ...
Nature genetics 4 (1), 47-50, 1993
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer
WM Grady, J Willis, PJ Guilford, AK Dunbier, TT Toro, H Lynch, G Wiesner, ...
Nature genetics 26 (1), 16-17, 2000
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
WLM Alward, JH Fingert, MA Coote, AT Johnson, SF Lerner, D Junqua, ...
New England Journal of Medicine 338 (15), 1022-1027, 1998
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)
AP Chiang, JS Beck, HJ Yen, MK Tayeh, TE Scheetz, RE Swiderski, ...
Proceedings of the National Academy of Sciences 103 (16), 6287-6292, 2006
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
DY Nishimura, RE Swiderski, WLM Alward, CC Searby, SR Patil, ...
Nature genetics 19 (2), 140-147, 1998
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