Luis M. Franco - Related publications

University of California, Santa Barbara, Santa Barbara, CA, United States 
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50 most relevant papers in past 60 days:
Year Citation  Score
2021 Medico-Salsench E, Karkala F, Lanko K, Barakat TS. The non-coding genome in genetic brain disorders: new targets for therapy? Essays in Biochemistry. PMID 34414418 DOI: 10.1042/EBC20200121   
2021 Song F, Owczarek-Lipska M, Ahmels T, Book M, Aisenbrey S, Menghini M, Barthelmes D, Schrader S, Spital G, Neidhardt J. High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies. Genes. 12. PMID 34440443 DOI: 10.3390/genes12081269   
2021 Feliciano CM, Wu K, Watry HL, Marley CBE, Ramadoss GN, Ghanim HY, Liu AZ, Zholudeva LV, McDevitt TC, Saporta MA, Conklin BR, Judge LM. Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E. Frontiers in Cell and Developmental Biology. 9: 723023. PMID 34485306 DOI: 10.3389/fcell.2021.723023   
2021 Zhu H, Zheng F, Li L, Jin Y, Luo Y, Li Z, Zeng J, Tang L, Li Z, Xia N, Liu P, Han D, Shan Y, Zhu X, Liu S, et al. A Chinese host genetic study discovered IFNs and causality of laboratory traits on COVID-19 severity. Iscience. 103186. PMID 34608450 DOI: 10.1016/j.isci.2021.103186   
2021 Mou W, Gao L, He J, Yin J, Xu B, Gui J. Compound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease. Immunogenetics. PMID 34406419 DOI: 10.1007/s00251-021-01219-4   
2021 Chen T, Lin YX, Zha Y, Sun Y, Tian J, Yang Z, Lin SW, Yu F, Chen ZS, Kuang BH, Lei JJ, Nie YJ, Xu Y, Tian DB, Li YZ, et al. A Low-Producing Haplotype of Interleukin-6 Disrupting CTCF Binding Is Protective against Severe COVID-19. Mbio. e0137221. PMID 34634929 DOI: 10.1128/mBio.01372-21   
2021 Chakravarti A. Magnitude of Mendelian versus complex inheritance of rare disorders. American Journal of Medical Genetics. Part A. PMID 34418293 DOI: 10.1002/ajmg.a.62463   
2021 Al-Jaf SMA, Niranji SS, Ali HN, Mohammed OA. Association of Apolipoprotein e polymorphism with SARS-CoV-2 infection. Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases. 95: 105043. PMID 34419671 DOI: 10.1016/j.meegid.2021.105043   
2021 van Eyk CL, Webber DL, Minoche AE, Pérez-Jurado LA, Corbett MA, Gardner AE, Berry JG, Harper K, MacLennan AH, Gecz J. Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. Npj Genomic Medicine. 6: 74. PMID 34531397 DOI: 10.1038/s41525-021-00238-0   
2021 Pacheco Y, Valeyre D, El Jammal T, Vallee M, Chevalier F, Lamartine J, Sigaudo-Roussel D, Verrier B, Israel-Biet D, Freymond N, Cottin V, Calender A. Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses. Cells. 10. PMID 34440765 DOI: 10.3390/cells10081995   
2021 Maynard LH, Humbert O, Peterson CW, Kiem HP. Genome editing in large animal models. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 34601132 DOI: 10.1016/j.ymthe.2021.09.026   
2021 Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, et al. NGS in Hereditary Ataxia: When Rare Becomes Frequent. International Journal of Molecular Sciences. 22. PMID 34445196 DOI: 10.3390/ijms22168490   
2021 Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, et al. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families. Genes. 12. PMID 34440373 DOI: 10.3390/genes12081199   
2021 Ferreira de Araújo JL, Menezes D, Saraiva-Duarte JM, de Lima Ferreira L, Santana de Aguiar R, Pedra de Souza R. Systematic review of host genetic association with Covid-19 prognosis and susceptibility: What have we learned in 2020? Reviews in Medical Virology. e2283. PMID 34338380 DOI: 10.1002/rmv.2283   
2021 Rodriguez RM, Hernández-Fuentes MP, Corte-Iglesias V, Saiz ML, Lozano JJ, Cortazar AR, Mendizabal I, Suarez-Fernandez ML, Coto E, López-Vázquez A, Díaz-Corte C, Aransay AM, López-Larrea C, Suarez-Álvarez B. Defining a Methylation Signature Associated With Operational Tolerance in Kidney Transplant Recipients. Frontiers in Immunology. 12: 709164. PMID 34489960 DOI: 10.3389/fimmu.2021.709164   
2021 Ding J, Frantzeskos A, Orozco G. Functional interrogation of autoimmune disease genetics using CRISPR/Cas9 technologies and massively parallel reporter assays. Seminars in Immunopathology. PMID 34508276 DOI: 10.1007/s00281-021-00887-4   
2021 Jiang X, Chen M, Song W, Lin GN. Label propagation-based semi-supervised feature selection on decoding clinical phenotypes with RNA-seq data. Bmc Medical Genomics. 14: 141. PMID 34465339 DOI: 10.1186/s12920-021-00985-0   
2021 Yang F, Long N, Anekpuritanang T, Bottomly D, Savage JC, Lee T, Solis-Ruiz JM, Borate U, Wilmot B, Tognon CE, Bock AM, Pollyea DA, Radhakrishnan SM, Radhakrishnan S, Patel PA, et al. Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult AML patients. Blood. PMID 34482403 DOI: 10.1182/blood.2021011354   
2021 Kim SS, Hudgins AD, Yang J, Zhu Y, Tu Z, Rosenfeld MG, DiLorenzo TP, Suh Y. A comprehensive integrated post-GWAS analysis of Type 1 diabetes reveals enhancer-based immune dysregulation. Plos One. 16: e0257265. PMID 34529725 DOI: 10.1371/journal.pone.0257265   
2021 Zhan L, Li J, Jew B, Sul JH. Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences. Plos Genetics. 17: e1009772. PMID 34516545 DOI: 10.1371/journal.pgen.1009772   
2021 Mehta P, Alle S, Chaturvedi A, Swaminathan A, Saifi S, Maurya R, Chattopadhyay P, Devi P, Chauhan R, Kanakan A, Vasudevan JS, Sethuraman R, Chidambaram S, Srivastava M, Chakravarthi A, et al. Clinico-Genomic Analysis Reveals Mutations Associated with COVID-19 Disease Severity: Possible Modulation by RNA Structure. Pathogens (Basel, Switzerland). 10. PMID 34578142 DOI: 10.3390/pathogens10091109   
2021 Li X, Pan X, Zhou H, Wang P, Gao Y, Shang S, Guo S, Sun J, Xiong Z, Ning S, Zhi H, Li X. Comprehensive characterization genetic regulation and chromatin landscape of enhancer-associated long non-coding RNAs and their implication in human cancer. Briefings in Bioinformatics. PMID 34581409 DOI: 10.1093/bib/bbab401   
2021 Demidov G, Park J, Armeanu-Ebinger S, Roggia C, Faust U, Cordts I, Blandfort M, Haack TB, Schroeder C, Ossowski S. Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data. Molecular Genetics & Genomic Medicine. e1807. PMID 34491624 DOI: 10.1002/mgg3.1807   
2021 Axente M, Shelby ES, Mirea A, Sporea C, Badina M, Padure L, Ion DA. Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency. Journal of Medicine and Life. 14: 424-428. PMID 34377212 DOI: 10.25122/jml-2021-0147   
2021 Joslin AC, Sobreira DR, Hansen GT, Sakabe NJ, Aneas I, Montefiori LE, Farris KM, Gu J, Lehman DM, Ober C, He X, Nóbrega MA. A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci. Nature Communications. 12: 5253. PMID 34489471 DOI: 10.1038/s41467-021-25614-3   
2021 Al-Khuzaei S, Broadgate S, Foster CR, Shah M, Yu J, Downes SM, Halford S. An Overview of the Genetics of Retinopathies, an Evolving Story. Genes. 12. PMID 34440414 DOI: 10.3390/genes12081241   
2021 Arendt M, Ambrosen A, Fall T, Kierczak M, Tengvall K, Meadows JRS, Karlsson Å, Lagerstedt AS, Bergström T, Andersson G, Lindblad-Toh K, Hagman R. The ABCC4 gene is associated with pyometra in golden retriever dogs. Scientific Reports. 11: 16647. PMID 34404837 DOI: 10.1038/s41598-021-95936-1   
2021 Quaio CRDC, Obando MJR, Perazzio SF, Dutra AP, Chung CH, Moreira CM, Novo Filho GM, Sacramento-Bobotis PR, Penna MG, Souza RRF, Cintra VP, Carnavalli JEP, Silva RAD, Santos MNP, Paixão D, et al. Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases. Genetics and Molecular Biology. 44: 20210061. PMID 34609444 DOI: 10.1590/1678-4685-GMB-2021-0061   
2021 Mo A, Nagpal S, Gettler K, Haritunians T, Giri M, Haberman Y, Karns R, Prince J, Arafat D, Hsu NY, Chuang LS, Argmann C, Kasarskis A, Suarez-Farinas M, Gotman N, et al. Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression. American Journal of Human Genetics. PMID 34450030 DOI: 10.1016/j.ajhg.2021.07.013   
2021 Wang X, Chen Z, Murani E, D'Alessandro E, An Y, Chen C, Li K, Galeano G, Wimmers K, Song C. A 192 bp ERV fragment insertion in the first intron of porcine TLR6 may act as an enhancer associated with the increased expressions of TLR6 and TLR1. Mobile Dna. 12: 20. PMID 34407874 DOI: 10.1186/s13100-021-00248-w   
2021 Sarkadi B, Liko I, Nyiro G, Igaz P, Butz H, Patocs A. Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma. Cancers. 13. PMID 34439371 DOI: 10.3390/cancers13164219   
2021 Rubinstein CD, McLean DT, Lehman BP, Meudt JJ, Schomberg DT, Krentz KJ, Reichert JL, Meyer MB, Adams M, Konsitzke CM, Shanmuganayagam D. Assessment of Mosaicism and Detection of Cryptic Alleles in CRISPR/Cas9-Engineered Neurofibromatosis Type 1 and Mutant Porcine Models Reveals Overlooked Challenges in Precision Modeling of Human Diseases. Frontiers in Genetics. 12: 721045. PMID 34630515 DOI: 10.3389/fgene.2021.721045   
2021 Chen J, Liang T, Cen J, Jiang J, Pan S, Huang S, Chen L, Sun X, Li H, Chen T, Liang W, Liao S, Yu C, Yao Y, Ye Z, et al. A seven-gene signature and the C-C motif chemokine receptor family genes are the sarcoma-related immune genes. Bioengineered. 12: 7616-7630. PMID 34605725 DOI: 10.1080/21655979.2021.1981797   
2021 Urayama KY. Epidemiology of childhood leukemia: a targeted overview. [Rinsho Ketsueki] the Japanese Journal of Clinical Hematology. 62: 733-738. PMID 34349056 DOI: 10.11406/rinketsu.62.733   
2021 Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Álvarez JV, Chans R, Laranjeira F, Martins E, Ferreira AC, Avila-Alvarez A, Couce ML. Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center. Genes. 12. PMID 34440436 DOI: 10.3390/genes12081262   
2021 Wang Y, Hu LF, Zhou TJ, Qi LY, Xing L, Lee J, Wang FZ, Oh YK, Jiang HL. Gene therapy strategies for rare monogenic disorders with nuclear or mitochondrial gene mutations. Biomaterials. 277: 121108. PMID 34478929 DOI: 10.1016/j.biomaterials.2021.121108   
2021 Ryan MM. Gene therapy for neuromuscular disorders: prospects and ethics. Archives of Disease in Childhood. PMID 34462265 DOI: 10.1136/archdischild-2020-320908   
2021 Kinoshita S, Ando M, Ando J, Ishii M, Furukawa Y, Tomita O, Azusawa Y, Shirane S, Kishita Y, Yatsuka Y, Eguchi H, Okazaki Y, Komatsu N. Trigenic // mutations in myelodysplasia with Usher syndrome. Heliyon. 7: e07804. PMID 34458631 DOI: 10.1016/j.heliyon.2021.e07804   
2021 Sun H, Lan X, Ma L, Zhou J. Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations. Human Genetics. PMID 34498116 DOI: 10.1007/s00439-021-02362-4   
2021 Findley AS, Zhang X, Boye C, Lin YL, Kalita CA, Barreiro L, Lohmueller KE, Pique-Regi R, Luca F. A signature of Neanderthal introgression on molecular mechanisms of environmental responses. Plos Genetics. 17: e1009493. PMID 34570765 DOI: 10.1371/journal.pgen.1009493   
2021 Chiereghin C, Travaglino E, Zampini M, Saba E, Saitta C, Riva E, Bersanelli M, Della Porta MG. The Genetics of Myelodysplastic Syndromes: Clinical Relevance. Genes. 12. PMID 34440317 DOI: 10.3390/genes12081144   
2021 Mosedale M, Cai Y, Eaddy JS, Kirby PJ, Wolenski FS, Dragan Y, Valdar W. Human-Relevant Mechanisms and Risk Factors for TAK-875-Induced Liver Injury Identified via a Gene Pathway-Based Approach in Collaborative Cross Mice. Toxicology. 152902. PMID 34418498 DOI: 10.1016/j.tox.2021.152902   
2021 Gaál Z, Szűcs Z, Kántor I, Luczay A, Tóth-Heyn P, Benn O, Felszeghy E, Karádi Z, Madar L, Balogh I. A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases. Life (Basel, Switzerland). 11. PMID 34440516 DOI: 10.3390/life11080771   
2021 Yang H, Cai F, Liao H, Gan S, Xiao T, Wu L. Case Report: Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration. Frontiers in Pediatrics. 9: 710553. PMID 34485198 DOI: 10.3389/fped.2021.710553   
2021 Tamura S, Kosako H, Furuya Y, Yamashita Y, Mushino T, Mishima H, Kinoshita A, Nishikawa A, Yoshiura KI, Sonoki T. A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia. Acta Haematologica. 1-8. PMID 34515044 DOI: 10.1159/000518227   
2021 Martin-Almedina S, Mortimer PS, Ostergaard P. Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema. Physiological Reviews. 101: 1809-1871. PMID 33507128 DOI: 10.1152/physrev.00006.2020   
2021 Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, et al. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. European Journal of Human Genetics : Ejhg. PMID 34521999 DOI: 10.1038/s41431-021-00960-4   
2021 Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, Jayaseelan D, Haworth A, Sweeney MG, Kullmann DM, Schorge S, Hanna MG, Männikkö R. Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. Brain : a Journal of Neurology. PMID 34529042 DOI: 10.1093/brain/awab344   
2021 Hasan MR, Suleiman M, Pérez-López A. Metabolomics in the Diagnosis and Prognosis of COVID-19. Frontiers in Genetics. 12: 721556. PMID 34367265 DOI: 10.3389/fgene.2021.721556   
2021 Zhang L, Wang Y. Gene therapy in epilepsy. Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie. 143: 112075. PMID 34488082 DOI: 10.1016/j.biopha.2021.112075