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Allison J. Cox, Ph.D.

she/her/hers

Contact

Office (585) 275-7574

About Me
Credentials
Publications

About Me

Faculty Appointments

Assistant Professor - Department of Pathology and Laboratory Medicine (SMD)

Credentials

Education

PhD | University of Iowa. Genetics. 2016

Publications

Journal Articles

Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States.

Rush ET, Del Angel G, Dong J, Bates T, Steiner RD, Cox A

Molecular genetics and metabolism.. 2025 February 2144 (3):109046. Epub 02/02/2025.

P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).

Charras A, Hofmann SR, Cox A, Schulze F, Russ S, Northey S, Liu X, Fang Y, Haldenby S, Hartmann H, Bassuk AG, Carvalho A, Sposito F, Grinstein L, Rösen-Wolff A, Meyer-Bahlburg A, Beresford MW, Lainka E, Föll D, Wittkowski H, Girschick HJ, Morbach H, Uebe S, Hüffmeier U, Ferguson PJ, Hedrich CM

Journal of autoimmunity.. 2024 April 144 :103183. Epub 02/23/2024.

Clinicopathologic and Molecular Characterization of Anorectal Neuroendocrine Carcinomas Reveals Human Papillomavirus, p53, and c-Myc as Alternative Mechanisms of Carcinogenesis.

Cox AJ, Crowe WE, Yang Q, Zhang B, Oltvai ZN, Liao X

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.. 2023 November 36 (11):100295. Epub 07/29/2023.

kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report.

Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A

Cold Spring Harbor molecular case studies.. 2023 June 9 (3)Epub 07/11/2023.

D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.

Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang YH, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H

American journal of medical genetics. Part A.. 2022 January 188 (1):357-363. Epub 10/08/2021.

Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype.

Choksi IN, Cox A, Robinson C, Bale A, Carpenter TO

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA.. 2021 June 32 (6):1239-1244. Epub 02/23/2021.

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

Hildebrand JM, Kauppi M, Majewski IJ, Liu Z, Cox AJ, Miyake S, Petrie EJ, Silk MA, Li Z, Tanzer MC, Brumatti G, Young SN, Hall C, Garnish SE, Corbin J, Stutz MD, Di Rago L, Gangatirkar P, Josefsson EC, Rigbye K, Anderton H, Rickard JA, Tripaydonis A, Sheridan J, Scerri TS, Jackson VE, Czabotar PE, Zhang JG, Varghese L, Allison CC, Pellegrini M, Tannahill GM, Hatchell EC, Willson TA, Stockwell D, de Graaf CA, Collinge J, Hilton A, Silke N, Spall SK, Chau D, Athanasopoulos V, Metcalf D, Laxer RM, Bassuk AG, Darbro BW, Fiatarone Singh MA, Vlahovich N, Hughes D, Kozlovskaia M, Ascher DB, Warnatz K, Venhoff N, Thiel J, Biben C, Blum S, Reveille J, Hildebrand MS, Vinuesa CG, McCombe P, Brown MA, Kile BT, McLean C, Bahlo M, Masters SL, Nakano H, Ferguson PJ, Murphy JM, Alexander WS, Silke J

Nature communications.. 2020 June 1911 (1):3150. Epub 06/19/2020.

In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

Cox AJ, Grady F, Velez G, Mahajan VB, Ferguson PJ, Kitchen A, Darbro BW, Bassuk AG

Genetics research.. 2019 June 13101 :e8. Epub 06/13/2019.

Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans.

Abe K, Cox A, Takamatsu N, Velez G, Laxer RM, Tse SML, Mahajan VB, Bassuk AG, Fuchs H, Ferguson PJ, Hrabe de Angelis M

Proceedings of the National Academy of Sciences of the United States of America.. 2019 June 11116 (24):11872-11877. Epub 05/28/2019.

Update on the genetics of nonbacterial osteomyelitis in humans.

Cox AJ, Ferguson PJ

Current opinion in rheumatology.. 2018 September 30 (5):521-525. Epub 1900 01 01.

Chronic Recurrent Multifocal Osteomyelitis and Related Diseases-Update on Pathogenesis.

Cox AJ, Zhao Y, Ferguson PJ

Current rheumatology reports.. 2017 April 19 (4):18. Epub 1900 01 01.

Biallelic mutations in neuromuscular disease and epileptic encephalopathy.

Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC, , Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H

Annals of clinical and translational neurology.. 2017 January 4 (1):26-35. Epub 12/20/2016.

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Cox AJ, Darbro BW, Laxer RM, Velez G, Bing X, Finer AL, Erives A, Mahajan VB, Bassuk AG, Ferguson PJ

PloS one.. 2017 12 (3):e0169687. Epub 03/16/2017.

Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.

Schaefer KA, Toral MA, Velez G, Cox AJ, Baker SA, Borcherding NC, Colgan DF, Bondada V, Mashburn CB, Yu CG, Geddes JW, Tsang SH, Bassuk AG, Mahajan VB

Investigative ophthalmology & visual science.. 2016 May 157 (6):2509-21. Epub 1900 01 01.

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood SA, Manak JR, Bassuk AG

PLoS genetics.. 2015 March 11 (3):e1005022. Epub 03/12/2015.

The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol.

Leduc MS, Lyons M, Darvishi K, Walsh K, Sheehan S, Amend S, Cox A, Orho-Melander M, Kathiresan S, Paigen B, Korstanje R

Journal of lipid research.. 2011 June 52 (6):1139-1149. Epub 03/28/2011.

Activation of the p38 MAPK/Akt/ERK1/2 signal pathways is required for the protein stabilization of CDC6 and cyclin D1 in low-dose arsenite-induced cell proliferation.

Liu Y, Hock JM, Sullivan C, Fang G, Cox AJ, Davis KT, Davis BH, Li X

Journal of cellular biochemistry.. 2010 December 15111 (6):1546-55. Epub 1900 01 01.

Combining QTL data for HDL cholesterol levels from two different species leads to smaller confidence intervals.

Cox A, Sheehan SM, Klöting I, Paigen B, Korstanje R

Heredity.. 2010 November 105 (5):426-32. Epub 06/16/2010.

An experimental assessment of in silico haplotype association mapping in laboratory mice.

Burgess-Herbert SL, Tsaih SW, Stylianou IM, Walsh K, Cox AJ, Paigen B

BMC genetics.. 2009 December 910 :81. Epub 12/09/2009.

A new standard genetic map for the laboratory mouse.

Cox A, Ackert-Bicknell CL, Dumont BL, Ding Y, Bell JT, Brockmann GA, Wergedal JE, Bult C, Paigen B, Flint J, Tsaih SW, Churchill GA, Broman KW

Genetics.. 2009 August 182 (4):1335-44. Epub 06/17/2009.

Genetic basis of HDL variation in 129/SvImJ and C57BL/6J mice: importance of testing candidate genes in targeted mutant mice.

Su Z, Wang X, Tsaih SW, Zhang A, Cox A, Sheehan S, Paigen B

Journal of lipid research.. 2009 January 50 (1):116-25. Epub 09/04/2008.

Farp2 and Stk25 are candidate genes for the HDL cholesterol locus on mouse chromosome 1.

Su Z, Cox A, Shen Y, Stylianou IM, Paigen B

Arteriosclerosis, thrombosis, and vascular biology.. 2009 January 29 (1):107-13. Epub 11/06/2008.

Practical applications of the bioinformatics toolbox for narrowing quantitative trait loci.

Burgess-Herbert SL, Cox A, Tsaih SW, Paigen B

Genetics.. 2008 December 180 (4):2227-35. Epub 10/09/2008.