| 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 |
0.313 |
|
| 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 |
0.427 |
|
| 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 |
0.364 |
|
| 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 |
0.381 |
|
| 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 |
0.303 |
|
| 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 |
0.36 |
|
| 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 |
0.567 |
|
| 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 |
0.565 |
|
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