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 | 252 | 2009 |
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 | 83 | 2015 |
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 | 74 | 2017 |
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 | 73 | 2020 |
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 | 69 | 2008 |
Update on the genetics of nonbacterial osteomyelitis in humans AJ Cox, PJ Ferguson Current opinion in rheumatology 30 (5), 521-525, 2018 | 40 | 2018 |
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 | 36 | 2016 |
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 | 35 | 2019 |
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 | 32 | 2011 |
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 | 25 | 2009 |
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 | 25 | 2009 |
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 | 24 | 2009 |
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 | 21 | 2017 |
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 | 9 | 2010 |
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 | 7 | 2016 |
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 | 6 | 2022 |
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 | 5 | 2019 |
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 | 3 | 2022 |
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 | 3 | 2019 |
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 | 3 | 2008 |