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Jonathan J. Rios, Ph.D. - Publications

Affiliations: 
2008 Texas A & M University, College Station, TX, United States 
Area:
Genetics
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27 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Xu D, Lyon S, Bu CH, Hildebrand S, Choi JH, Zhong X, Liu A, Turer EE, Zhang Z, Russell J, Ludwig S, Mahrt E, Nair-Gill E, Shi H, Wang Y, ... ... Rios JJ, et al. Thousands of induced germline mutations affecting immune cells identified by automated meiotic mapping coupled with machine learning. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 34260399 DOI: 10.1073/pnas.2106786118  0.306
2021 Xing C, Kanchwala M, Rios J, Hyatt T, Wang RC, Tran A, Dougherty I, Tovar A, Purnadi C, Kumar MG, Berk D, Shinawi M, Irvine AD, Toledo-Bahena M, Agim NG, et al. Biallelic variants in RNU12 cause CDAGS syndrome. Human Mutation. PMID 34085356 DOI: 10.1002/humu.24239  0.307
2021 Rios JJ, Denton K, Russell J, Kozlitina J, Ferreira CR, Lewanda AF, Mayfield JE, Moresco E, Ludwig S, Tang M, Li X, Lyon S, Khanshour A, Paria N, Khalid A, et al. Germline saturation mutagenesis induces skeletal phenotypes in mice. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 33905568 DOI: 10.1002/jbmr.4323  0.312
2020 Patel C, Khanshour AM, Wilkes D, Rios JJ, Sheff KW, Nassi L, Wise CA. Novel homozygous variant in in a family with unrecognized progressive pseudorheumatoid dysplasia. Clinical Case Reports. 8: 1452-1457. PMID 32884773 DOI: 10.1002/Ccr3.2884  0.326
2020 Ma Y, Gross AM, Dombi E, Pemov A, Choi K, Chaney K, Rhodes SD, Angus SP, Sciaky N, Clapp DW, Ratner N, Widemann BC, Rios JJ, Elefteriou F. A molecular basis for neurofibroma-associated skeletal manifestations in NF1. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32601387 DOI: 10.1038/S41436-020-0885-3  0.307
2020 Wise CA, Sepich D, Ushiki A, Khanshour AM, Kidane YH, Makki N, Gurnett CA, Gray RS, Rios JJ, Ahituv N, Solnica-Krezel L. The cartilage matrisome in adolescent idiopathic scoliosis. Bone Research. 8: 13. PMID 32195011 DOI: 10.1038/S41413-020-0089-0  0.315
2019 Sifuentes-Dominguez LF, Li H, Llano E, Liu Z, Singla A, Patel AS, Kathania M, Khoury A, Norris N, Rios JJ, Starokadomskyy P, Park JY, Gopal P, Liu Q, Tan S, et al. deficiency results in colitis susceptibility. Elife. 8. PMID 31663849 DOI: 10.7554/Elife.49910  0.353
2019 Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, ... ... Rios JJ, et al. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Human Mutation. PMID 31471994 DOI: 10.1002/Humu.23907  0.426
2018 Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, ... ... Rios JJ, et al. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. American Journal of Human Genetics. 103: 1038-1044. PMID 30503519 DOI: 10.1016/J.Ajhg.2018.10.024  0.411
2018 Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, ... ... Rios JJ, et al. Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci. Human Molecular Genetics. 27: 3986-3998. PMID 30395268 DOI: 10.1093/Hmg/Ddy306  0.363
2017 Tahaei SE, Couasnay G, Ma Y, Paria N, Gu J, Lemoine BF, Wang X, Rios JJ, Elefteriou F. The reduced osteogenic potential of Nf1-deficient osteoprogenitors is EGFR-independent. Bone. PMID 29032173 DOI: 10.1016/J.Bone.2017.10.012  0.37
2015 Foley SB, Rios JJ, Mgbemena VE, Robinson LS, Hampel HL, Toland AE, Durham L, Ross TS. Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. Ebiomedicine. 2: 74-81. PMID 26023681 DOI: 10.1016/J.Ebiom.2014.12.003  0.379
2015 Sant DW, Margraf RL, Stevenson DA, Grossmann AH, Viskochil DH, Hanson H, Everitt MD, Rios JJ, Elefteriou F, Hennessey T, Mao R. Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. Journal of Medical Genetics. 52: 256-61. PMID 25612910 DOI: 10.1136/Jmedgenet-2014-102815  0.377
2015 Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. American Journal of Medical Genetics. Part A. 167: 287-95. PMID 25557259 DOI: 10.1002/Ajmg.A.36836  0.363
2015 Rios JJ, Delgado MR. Using whole-exome sequencing to identify variants inherited from mosaic parents. European Journal of Human Genetics : Ejhg. 23: 547-50. PMID 24986828 DOI: 10.1038/Ejhg.2014.125  0.409
2014 de la Croix Ndong J, Makowski AJ, Uppuganti S, Vignaux G, Ono K, Perrien DS, Joubert S, Baglio SR, Granchi D, Stevenson DA, Rios JJ, Nyman JS, Elefteriou F. Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1. Nature Medicine. 20: 904-10. PMID 24997609 DOI: 10.1038/Nm.3583  0.341
2014 Paria N, Cho TJ, Choi IH, Kamiya N, Kayembe K, Mao R, Margraf RL, Obermosser G, Oxendine I, Sant DW, Song MH, Stevenson DA, Viskochil DH, Wise CA, Kim HK, ... Rios JJ, et al. Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 29: 2636-42. PMID 24932921 DOI: 10.1002/Jbmr.2298  0.425
2014 Paria N, Copley LA, Herring JA, Kim HK, Richards BS, Sucato DJ, Rios JJ, Wise CA. The impact of large-scale genomic methods in orthopaedic disorders: insights from genome-wide association studies. The Journal of Bone and Joint Surgery. American Volume. 96: e38. PMID 24599210 DOI: 10.2106/Jbjs.M.00398  0.38
2013 Soyombo AA, Wu Y, Kolski L, Rios JJ, Rakheja D, Chen A, Kehler J, Hampel H, Coughran A, Ross TS. Analysis of induced pluripotent stem cells from a BRCA1 mutant family. Stem Cell Reports. 1: 336-49. PMID 24319668 DOI: 10.1016/J.Stemcr.2013.08.004  0.344
2013 Paria N, Copley LA, Herring JA, Kim HK, Richards BS, Sucato DJ, Wise CA, Rios JJ. Whole-exome sequencing: discovering genetic causes of orthopaedic disorders. The Journal of Bone and Joint Surgery. American Volume. 95: e1851-8. PMID 24306708 DOI: 10.2106/Jbjs.L.01620  0.343
2013 Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M. Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Human Molecular Genetics. 22: 444-51. PMID 23100325 DOI: 10.1093/Hmg/Dds440  0.355
2012 Molho-Pessach V, Rios JJ, Xing C, Setchell KD, Cohen JC, Hobbs HH. Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology. Hepatology (Baltimore, Md.). 55: 1139-45. PMID 22095780 DOI: 10.1002/Hep.24781  0.302
2012 Rios JJ, Shastry S, Jasso J, Hauser N, Garg A, Bensadoun A, Cohen JC, Hobbs HH. Deletion of GPIHBP1 causing severe chylomicronemia Journal of Inherited Metabolic Disease. 35: 531-540. PMID 22008945 DOI: 10.1007/S10545-011-9406-5  0.342
2012 Zhang W, Yao Y, Yan J, Zhang Y, Rios J, Girard L, Pertsemlidis A, Wakeland W, Xie Y, Solis LM, Wistuba II, Hanash SM, Minna JD, Gazdar AF. Abstract 2998: BRG1 (SMARCA4) protein loss has profound effects on the transcriptome of non-small cell lung cancer (NSCLC) cell lines Cancer Research. 72: 2998-2998. DOI: 10.1158/1538-7445.Am2012-2998  0.359
2010 Rios J, Stein E, Shendure J, Hobbs HH, Cohen JC. Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Human Molecular Genetics. 19: 4313-8. PMID 20719861 DOI: 10.1093/Hmg/Ddq352  0.386
2010 Rios JJ, Fleming JG, Bryant UK, Carter CN, Huber JC, Long MT, Spencer TE, Adelson DL. OAS1 polymorphisms are associated with susceptibility to West Nile encephalitis in horses. Plos One. 5: e10537. PMID 20479874 DOI: 10.1371/Journal.Pone.0010537  0.566
2007 Rios JJ, Perelygin AA, Long MT, Lear TL, Zharkikh AA, Brinton MA, Adelson DL. Characterization of the equine 2'-5' oligoadenylate synthetase 1 (OAS1) and ribonuclease L (RNASEL) innate immunity genes. Bmc Genomics. 8: 313. PMID 17822564 DOI: 10.1186/1471-2164-8-313  0.563
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