Isaac Marin-Valencia - Related publications

Affiliations: 
2017 Rockefeller University, New York, NY, United States 
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50 most relevant papers in past 60 days:
Year Citation  Score
2021 Li X, Zhao S, Bi X, Lou F, Zeng W, Gao Y, Mao Z, Ma J. [Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation in gene]. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery. 35: 621-626. PMID 34304492 DOI: 10.13201/j.issn.2096-7993.2021.07.010   
2021 Li X, Zhao S, Bi X, Lou F, Zeng W, Gao Y, Mao Z, Ma J. [Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation in gene]. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery. 35: 621-626. PMID 34304492 DOI: 10.13201/j.issn.2096-7993.2021.07.010   
2021 Biondo ED, Spontarelli K, Ababioh G, Mendez L, Artigas P. Diseases caused by mutations in the Na/K pump α1 gene ATP1A1. American Journal of Physiology. Cell Physiology. PMID 34232746 DOI: 10.1152/ajpcell.00059.2021   
2021 Lopez-Martín S, Albert J, Peña Vila-Belda MDM, Liu X, Zhang ZC, Han J, Jiménez de Domingo A, Fernández-Mayoralas DM, Fernández-Perrone AL, Calleja-Pérez B, Álvarez S, Fernández-Jaén A. A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited missense mutation. Applied Neuropsychology. Child. 1-7. PMID 34470565 DOI: 10.1080/21622965.2021.1970551   
2021 Wang D, Song L, Shen L, Zhang K, Lv Y, Gao M, Ma J, Wan Y, Gai Z, Liu Y. Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature. Frontiers in Pharmacology. 12: 644352. PMID 34335240 DOI: 10.3389/fphar.2021.644352   
2021 Liu YH, Zhang HF, Jin JY, Wei YQ, Wang CY, Fan LL, Liu L. Case Report: A Homozygous Mutation (p.Y62X) of May Lead to a New Leukoencephalopathy Syndrome. Frontiers in Aging Neuroscience. 13: 671296. PMID 34267643 DOI: 10.3389/fnagi.2021.671296   
2021 Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, Teo J, Shanap MA, Hassab HM, Glader BE, Shah S, Yoshimi A, Ameri A, Antin JH, Boudreaux J, et al. SLC25A38 Congenital Sideroblastic Anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. Human Mutation. PMID 34298585 DOI: 10.1002/humu.24267   
2021 Hui W, Zhang W, Liu C, Wan S, Sun W, Su L. Alterations of Signaling Pathways in Essential Thrombocythemia with Calreticulin Mutation. Cancer Management and Research. 13: 6231-6238. PMID 34393515 DOI: 10.2147/CMAR.S316919   
2021 Siddiqui N, Seedat F, Bulbulia S, Mtshali NZ, Botha A, Krause A, Daya R, Bayat Z. SDHB-Associated Paraganglioma Syndrome in Africa-A Need for Greater Genetic Testing. Journal of the Endocrine Society. 5: bvab111. PMID 34377882 DOI: 10.1210/jendso/bvab111   
2021 Müller U. Spinocerebellar ataxias (SCAs) caused by common mutations. Neurogenetics. PMID 34401960 DOI: 10.1007/s10048-021-00662-5   
2021 Kurzer JH, Weinberg OK. Mutations in Hematologic Malignancies. Frontiers in Oncology. 11: 704471. PMID 34381727 DOI: 10.3389/fonc.2021.704471   
2021 Gong P, Jiao X, Yu D, Yang Z. Case Report: Causative Variants of for Developmental and Epileptic Encephalopathy. Frontiers in Genetics. 12: 649556. PMID 34276763 DOI: 10.3389/fgene.2021.649556   
2021 Gong P, Jiao X, Yu D, Yang Z. Case Report: Causative Variants of for Developmental and Epileptic Encephalopathy. Frontiers in Genetics. 12: 649556. PMID 34276763 DOI: 10.3389/fgene.2021.649556   
2021 Cai S, Zhang D, Jiao X, Wang T, Fan M, Wang Y, Hejtmancik JF, Liu X. Novel compound heterozygous mutations in identified in a Chinese family with developmental glaucoma. Molecular Medicine Reports. 24. PMID 34528698 DOI: 10.3892/mmr.2021.12443   
2021 Ni Y, Zhou X, Wu L, Wu P, Liu Y, Li Y, Cai L, Fu X, Zhang C. Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and Mutations: Case Report and Literature Review. Pharmacogenomics and Personalized Medicine. 14: 947-953. PMID 34377011 DOI: 10.2147/PGPM.S317153   
2021 Ren P, Chen H, Wang Y, Wang C, Feng S, Jiang H, Chen J. Case Report: Pathogenic c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy. Frontiers in Genetics. 12: 705832. PMID 34394193 DOI: 10.3389/fgene.2021.705832   
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 Montioli R, Sgaravizzi G, Desbats MA, Grottelli S, Voltattorni CB, Salviati L, Cellini B. Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina. Frontiers in Molecular Biosciences. 8: 695205. PMID 34395527 DOI: 10.3389/fmolb.2021.695205   
2021 Zhong W, Zhao H, Huang W, Zhang M, Zhang Q, Zhang Y, Chen C, Nueraihemaiti Z, Tuerhong D, Huang H, Maimaitili G, Chen F, Lin J. Identification of rare nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype-phenotype analysis. Genes & Diseases. 8: 689-697. PMID 34291140 DOI: 10.1016/j.gendis.2019.12.010   
2021 Zhong W, Zhao H, Huang W, Zhang M, Zhang Q, Zhang Y, Chen C, Nueraihemaiti Z, Tuerhong D, Huang H, Maimaitili G, Chen F, Lin J. Identification of rare nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype-phenotype analysis. Genes & Diseases. 8: 689-697. PMID 34291140 DOI: 10.1016/j.gendis.2019.12.010   
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 Gardrat S, Houy A, Brooks K, Cassoux N, Barnhill R, Dayot S, Bièche I, Raynal V, Baulande S, Marais R, Roman-Roman S, Stern MH, Rodrigues M. Definition of Biologically Distinct Groups of Conjunctival Melanomas According to Etiological Factors and Implications for Precision Medicine. Cancers. 13. PMID 34359736 DOI: 10.3390/cancers13153836   
2021 Müller K, Oh KW, Nordin A, Panthi S, Kim SH, Nordin F, Freischmidt A, Ludolph AC, Ki CS, Forsberg K, Weishaupt J, Kim YE, Andersen PM. De novo mutations in are a cause of ALS. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 34518333 DOI: 10.1136/jnnp-2021-327520   
2021 Yu L, Lemay P, Ludlow AV, Guyot MC, Jones MA, Mohamed FF, Saroya GA, Panaretos C, Schneider E, Wang Y, Myers G, Khoriaty R, Li Q, Franceschi R, Engel JD, et al. A new murine Rpl5(uL18) mutation provides a unique model of variably penetrant Diamond Blackfan Anemia. Blood Advances. PMID 34464976 DOI: 10.1182/bloodadvances.2021004658   
2021 Edgar S, Ellis M, Abdul-Aziz NA, Goh KJ, Shahrizaila N, Kennerson ML, Ahmad-Annuar A. Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS). Neurobiology of Aging. PMID 34404558 DOI: 10.1016/j.neurobiolaging.2021.07.008   
2021 Mahfood M, Chouchen J, Kamal Eddine Ahmad Mohamed W, Al Mutery A, Harati R, Tlili A. Whole exome sequencing, in silico and functional studies confirm the association of the mutation p.Cys169Tyr with deafness and suggest a role for the gene in the hearing process. Saudi Journal of Biological Sciences. 28: 4421-4429. PMID 34354426 DOI: 10.1016/j.sjbs.2021.04.036   
2021 Yeh TH, Liu HF, Chiu CC, Cheng ML, Huang GJ, Huang YC, Liu YC, Huang YZ, Lu CS, Chen YC, Chen HY, Cheng YC. PLA2G6 mutations cause motor dysfunction phenotypes of young-onset dystonia-parkinsonism type 14 and can be relieved by DHA treatment in animal models. Experimental Neurology. 113863. PMID 34520727 DOI: 10.1016/j.expneurol.2021.113863   
2021 Sakthivel KM, Geetha N, Raj TVA, Chandran RK, Krishna KMNJ, Sreedharan H. Whole Exome Sequencing Identifies Cohesin Component STAG1 Mutation in de novo Acute Myeloid Leukemia (FAB M2): A Pilot Study with Cytogenetics, Clinical and Prognostic Implications. Journal of Environmental Pathology, Toxicology and Oncology : Official Organ of the International Society For Environmental Toxicology and Cancer. 40: 51-64. PMID 33639073 DOI: 10.1615/JEnvironPatholToxicolOncol.2020035890   
2021 Patel SA, Lloyd MR, Cerny J, Shi Q, Simin K, Ediriwickrema A, Hutchinson L, Miron PM, Higgins AW, Ramanathan M, Gerber JM. Clinico-genomic profiling and clonal dynamic modeling of -aberrant myelodysplastic syndrome and acute myeloid leukemia. Leukemia & Lymphoma. 1-13. PMID 34496723 DOI: 10.1080/10428194.2021.1957869   
2021 Gao Y, Xu C, Tan Q, Shen Q, Wu H, Lv M, Li K, Tang D, Song B, Xu Y, Zhou P, Wei Z, Tao F, Cao Y, He X. Case Report: Novel Biallelic Mutations in Cause Primary Ciliary Dyskinesia and Male Infertility in a Chinese Family. Frontiers in Genetics. 12: 715339. PMID 34394199 DOI: 10.3389/fgene.2021.715339   
2021 Lewis SA, Bakhtiari S, Heim J, Cornejo P, Liu J, Huang A, Musmacker A, Jin SC, Bilguvar K, Padilla-Lopez SR, Kruer MC. Mutation in Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability. Neurology. Genetics. 7: e602. PMID 34345675 DOI: 10.1212/NXG.0000000000000602   
2021 Wang M, Zhou Y, He X, Deng C, Liu X, Li J, Zhou L, Li Y, Zhang Y, Liu H, Li L. Two novel Mutations of the LPL Gene in two Chinese family cases with Familial Chylomicronemia Syndrome. Clinica Chimica Acta; International Journal of Clinical Chemistry. PMID 34324844 DOI: 10.1016/j.cca.2021.07.022   
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 Yan HY, Xie YN, Han JZ, Song XQ. Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report. Journal of Musculoskeletal & Neuronal Interactions. 21: 397-400. PMID 34465679   
2021 Kumar R, Harila S, Parambi DGT, Kanthlal SK, Rahman MA, Alexiou A, Batiha GE, Mathew B. The Role of Mitochondrial Genes in Neurodegenerative Disorders. Current Neuropharmacology. PMID 34503413 DOI: 10.2174/1570159X19666210908163839   
2021 Magerus A, Bercher-Brayer C, Rieux-Laucat F. The genetic landscape of the FAS pathway deficiencies. Biomedical Journal. PMID 34171534 DOI: 10.1016/j.bj.2021.06.005   
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 Xue H, Maksemous N, Sidhom D, Ma L, Chen S, Wu J, Feng Y, M Haupt L, R Griffiths L. Novel compound heterozygous missense mutations in cause Charcot-Marie-Tooth type 4A. Journal of Genetics. 100. PMID 34470922   
2021 Ningappa M, Adenuga M, Ngo KA, Mohamed N, Narayanan T, Prasadan K, Ashokkumar C, Das J, Schmitt L, Hartman H, Sehrawat A, Salgado CM, Reyes-Mugica M, Gittes GK, Lo CW, et al. Mechanisms of Impaired Lung Development and Ciliation in Mannosidase-1-Alpha-2 () Mutants. Frontiers in Physiology. 12: 658518. PMID 34366878 DOI: 10.3389/fphys.2021.658518   
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 Yan MT, Yang SS, Tseng MH, Cheng CJ, Tsai JD, Sung CC, Hsu YJ, Lin SH. Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome. Npj Genomic Medicine. 6: 68. PMID 34389731 DOI: 10.1038/s41525-021-00230-8   
2021 Liu YX, Zhang AQ, Luo FM, Sheng Y, Wang CY, Dong Y, Fan L, Liu L. Case Report: A Novel Heterozygous Mutation of in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis. Frontiers in Pediatrics. 9: 687455. PMID 34408996 DOI: 10.3389/fped.2021.687455   
2021 Kang JH, Park JH, Park JS, Lee SK, Lee S, Baik HW. Molecular diagnosis of McArdle disease using whole-exome sequencing. Experimental and Therapeutic Medicine. 22: 1029. PMID 34373715 DOI: 10.3892/etm.2021.10461   
2021 Slater EP, Wilke LM, Böhm LB, Strauch K, Lutz M, Gercke N, Matthäi E, Hemminki K, Försti A, Schlesner M, Paramasivam N, Bartsch DK. Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer. Journal of Personalized Medicine. 11. PMID 34357098 DOI: 10.3390/jpm11070631   
2021 Xu Q, Wang M, Jin Y, Liu S, Luo S, Yang L. Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families. Blood Coagulation & Fibrinolysis : An International Journal in Haemostasis and Thrombosis. PMID 34261859 DOI: 10.1097/MBC.0000000000001065   
2021 Xu Q, Wang M, Jin Y, Liu S, Luo S, Yang L. Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families. Blood Coagulation & Fibrinolysis : An International Journal in Haemostasis and Thrombosis. PMID 34261859 DOI: 10.1097/MBC.0000000000001065   
2021 Huang YH, Chen CW, Sundaramurthy V, Slabicki M, Hao D, Watson CJ, Tovy A, Reyes JM, Dakhova O, Crovetti BR, Galonska C, Lee M, Brunetti L, Zhou Y, Tatton-Brown K, et al. Systematic profiling of DNMT3A variants reveals protein instability mediated by the DCAF8 E3 ubiquitin ligase adaptor. Cancer Discovery. PMID 34429321 DOI: 10.1158/2159-8290.CD-21-0560   
2021 Romzova M, Smitalova D, Hynst J, Tom N, Loja T, Herudkova Z, Jurcek T, Stejskal L, Zackova D, Mayer J, Racil Z, Culen M. Hierarchical distribution of somatic variants in newly diagnosed chronic myeloid leukaemia at diagnosis and early follow-up. British Journal of Haematology. PMID 34212373 DOI: 10.1111/bjh.17659   
2021 Jiang LJ, Zhao X, Dou ZY, Su QX, Rong ZH. Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report. Frontiers in Neurology. 12: 522513. PMID 34408715 DOI: 10.3389/fneur.2021.522513   
2021 Guerrini R, Balestrini S, Wirrell EC, Walker MC. Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies. Neurology. PMID 34493617 DOI: 10.1212/WNL.0000000000012744