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Allison Cox
Allison Cox
University of Rochester Medical Center
Verified email at urmc.rochester.edu
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Cited by
Year
A new standard genetic map for the laboratory mouse
A Cox, CL Ackert-Bicknell, BL Dumont, Y Ding, JT Bell, GA Brockmann, ...
Genetics 182 (4), 1335-1344, 2009
2512009
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase
L Paemka, VB Mahajan, SN Ehaideb, JM Skeie, MC Tan, S Wu, AJ Cox, ...
PLoS genetics 11 (3), e1005022, 2015
812015
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
AJ Cox, BW Darbro, RM Laxer, G Velez, X Bing, AL Finer, A Erives, ...
PloS one 12 (3), e0169687, 2017
742017
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction
JM Hildebrand, M Kauppi, IJ Majewski, Z Liu, AJ Cox, S Miyake, EJ Petrie, ...
Nature communications 11 (1), 3150, 2020
702020
Practical applications of the bioinformatics toolbox for narrowing quantitative trait loci
SL Burgess-Herbert, A Cox, SW Tsaih, B Paigen
Genetics 180 (4), 2227-2235, 2008
672008
Update on the genetics of nonbacterial osteomyelitis in humans
AJ Cox, PJ Ferguson
Current opinion in rheumatology 30 (5), 521-525, 2018
362018
Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans
K Abe, A Cox, N Takamatsu, G Velez, RM Laxer, SML Tse, VB Mahajan, ...
Proceedings of the National Academy of Sciences 116 (24), 11872-11877, 2019
352019
Calpain-5 expression in the retina localizes to photoreceptor synapses
KA Schaefer, MA Toral, G Velez, AJ Cox, SA Baker, NC Borcherding, ...
Investigative ophthalmology & visual science 57 (6), 2509-2521, 2016
342016
The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol [S]
MS Leduc, M Lyons, K Darvishi, K Walsh, S Sheehan, S Amend, A Cox, ...
Journal of lipid research 52 (6), 1139-1149, 2011
322011
Farp2 and Stk25 Are Candidate Genes for the HDL Cholesterol Locus on Mouse Chromosome 1
Z Su, A Cox, Y Shen, IM Stylianou, B Paigen
Arteriosclerosis, thrombosis, and vascular biology 29 (1), 107-113, 2009
252009
Genetic basis of HDL variation in 129/SvImJ and C57BL/6J mice: importance of testing candidate genes in targeted mutant mice* s⃞
Z Su, X Wang, SW Tsaih, A Zhang, A Cox, S Sheehan, B Paigen
Journal of lipid research 50 (1), 116-125, 2009
252009
An experimental assessment of in silico haplotype association mapping in laboratory mice
SL Burgess-Herbert, SW Tsaih, IM Stylianou, K Walsh, AJ Cox, B Paigen
BMC genetics 10, 1-12, 2009
232009
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
M Kambouris, J Thevenon, A Soldatos, A Cox, J Stephen, T Ben‐Omran, ...
Annals of clinical and translational neurology 4 (1), 26-35, 2017
212017
Combining QTL data for HDL cholesterol levels from two different species leads to smaller confidence intervals
A Cox, SM Sheehan, I Klöting, B Paigen, R Korstanje
Heredity 105 (5), 426-432, 2010
92010
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of sterile osteomyelitis
A Cox, BW Darbro, R Laxer, X Bing, A Finer, A Erives, V Mahajan, ...
ARTHRITIS & RHEUMATOLOGY 68, 2016
72016
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
AJ Cox, F Grady, G Velez, VB Mahajan, PJ Ferguson, A Kitchen, ...
Genetics research 101, e8, 2019
52019
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
KM Werner, AJ Cox, E Qian, P Jain, W Ji, I Tikhonova, C Castaldi, ...
American Journal of Medical Genetics Part A 188 (1), 357-363, 2022
42022
678 Damaging variants in P2X7R associate with Chronic Nonbacterial Osteomyelitis (CNO)
A Charras, SR Hofmann, A Cox, F Schulze, S Russ, H Hartmann, ...
Archives of Disease in Childhood 107 (Suppl 2), A260-A260, 2022
32022
Missense mutations in the MLKL ‘brace’region lead to lethal neonatal inflammation in mice and are present in high frequency in humans
JM Hildebrand, M Kauppi, IJ Majewski, Z Liu, A Cox, S Miyake, EJ Petrie, ...
bioRxiv, 628370, 2019
32019
Identifying the genetic basis of HDL variation between 129/SvImJ and C57BL/6J mice: critical importance for testing HDL candidate genes in targeted mutant mice
Z Su, X Wang, SW Tsaih, A Zhang, A Cox, S Sheehan, B Paigen
J Lipid Res 50 (1), 116-25, 2008
32008
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