Chris A. Walsh - Related publications

Harvard University, Cambridge, MA, United States 
Genes involved in the development and function of the cerebral cortex
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50 most relevant papers in past 60 days:
Year Citation  Score
2020 Reble E, Feng Y, Wigg KG, Barr CL. DNA Variant in the Gene Influences Alternative Splicing. Molecular Neuropsychiatry. 5: 97-106. PMID 32399473 DOI: 10.1159/000502199   
2020 Ghukasyan LG, Krasnov GS, Muravenko OV, Ikonnikova AY, Yurasov RA, Baidun LV, Ibragimova SZ, Nasedkina TV. [Driver Mutations in Acute Myeloid Leukemia with Inversion of Chromosome 16]. Molekuliarnaia Biologiia. 54: 389-397. PMID 32492002 DOI: 10.31857/S002689842003015510.31857/S0026898420030076   
2020 Mishra R, Kunar R, Mandal L, Alone DP, Chandrasekharan S, Tiwari AK, Tapadia MG, Mukherjee A, Roy JK. A Forward Genetic Approach to Mapping a -Element Second Site Mutation Identifies as a Novel Tumour Suppressor in . G3 (Bethesda, Md.). PMID 32591349 DOI: 10.1534/g3.120.401501   
2020 Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, et al. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 32506582 DOI: 10.1002/mds.28090   
2020 Gómez-Domínguez D, Epifano C, Miguel F, Castaño AG, Vilaplana-Martí B, Martín A, Amarilla-Quintana S, Bertrand AT, Bonne G, Ramón-Azcón J, Rodríguez-Milla MA, Pérez de Castro I. Consequences of Exon 4 Mutations in Myoblast Function. Cells. 9. PMID 32455813 DOI: 10.3390/cells9051286   
2020 Comer AL, Sriram B, Yen WW, Cruz-Martín A. A Pipeline using Bilateral In Utero Electroporation to Interrogate Genetic Influences on Rodent Behavior. Journal of Visualized Experiments : Jove. PMID 32510510 DOI: 10.3791/61350   
2020 Mo Z, Wang Y, Cao Z, Li P, Zhang S. An Integrative Analysis Reveals the Underlying Association Between CTNNB1 Mutation and Immunotherapy in Hepatocellular Carcinoma. Frontiers in Oncology. 10: 853. PMID 32596147 DOI: 10.3389/fonc.2020.00853   
2020 Seidlitz J, Nadig A, Liu S, Bethlehem RAI, Vértes PE, Morgan SE, Váša F, Romero-Garcia R, Lalonde FM, Clasen LS, Blumenthal JD, Paquola C, Bernhardt B, Wagstyl K, Polioudakis D, et al. Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders. Nature Communications. 11: 3358. PMID 32620757 DOI: 10.1038/s41467-020-17051-5   
2020 Ercu M, Markó L, Schächterle C, Tsvetkov D, Cui Y, Maghsodi S, Bartolomaeus TUP, Maass PG, Zühlke K, Gregersen N, Hübner N, Hodge R, Mühl A, Pohl B, Molé-Illas R, et al. Phosphodiesterase 3A and Arterial Hypertension. Circulation. PMID 32524868 DOI: 10.1161/CIRCULATIONAHA.119.043061   
2020 Gharesouran J, Jalaiei A, Hosseinzadeh A, Ghafouri-Fard S, Mokhtari Z, Ghahremanzadeh K, Rezazadeh N, Shiva S, Sadeghvand S, Taheri M, Rezazadeh M. GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease. Metabolic Brain Disease. PMID 32504392 DOI: 10.1007/s11011-020-00586-3   
2020 Christie KA, Robertson LJ, Conway C, Blighe K, DeDionisio LA, Chao-Shern C, Kowalczyk AM, Marshall J, Turnbull D, Nesbit MA, Moore CBT. Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 32416058 DOI: 10.1016/j.ymthe.2020.05.002   
2020 Geng K, Mu K, Zhao Y, Luan J, Cui Y, Han J. Identification of novel compound heterozygous mutations of the gene in a fetus with short-rib thoracic dysplasia 3 with or without polydactyly. Intractable & Rare Diseases Research. 9: 95-98. PMID 32494556 DOI: 10.5582/irdr.2020.01031   
2020 Kirtonia A, Pandya G, Sethi G, Pandey AK, Das BC, Garg M. A comprehensive review of genetic alterations and molecular targeted therapies for the implementation of personalized medicine in acute myeloid leukemia. Journal of Molecular Medicine (Berlin, Germany). PMID 32620999 DOI: 10.1007/s00109-020-01944-5   
2020 Kirtonia A, Pandya G, Sethi G, Pandey AK, Das BC, Garg M. A comprehensive review of genetic alterations and molecular targeted therapies for the implementation of personalized medicine in acute myeloid leukemia. Journal of Molecular Medicine (Berlin, Germany). PMID 32620999 DOI: 10.1007/s00109-020-01944-5   
2020 Rafi SK, Butler MG. The 15q11.2 BP1-BP2 Microdeletion () Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes. International Journal of Molecular Sciences. 21. PMID 32384786 DOI: 10.3390/ijms21093296   
2020 Scott HS, Hahn CN, Brown AL. Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA). Blood. PMID 32430494 DOI: 10.1182/blood.2019000937   
2020 Fan Y, Tan D, Song D, Zhang X, Chang X, Wang Z, Zhang C, Chan SH, Wu Q, Wu L, Wang S, Yan H, Ge L, Yang H, Mao B, et al. Clinical spectrum and genetic variations of -related muscular dystrophies in a large cohort of Chinese patients. Journal of Medical Genetics. PMID 32571898 DOI: 10.1136/jmedgenet-2019-106671   
2020 Berto S, Liu Y, Konopka G. Genomics at cellular resolution: insights into cognitive disorders and their evolution. Human Molecular Genetics. PMID 32566943 DOI: 10.1093/hmg/ddaa117   
2020 Zamani G, Hosseini Bereshneh A, Azizi Malamiri R, Bagheri S, Moradi K, Ashrafi MR, Tavasoli AR, Mohammadi M, Badv RS, Ghahvechi Akbari M, Heidari M. The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations. Journal of Molecular Neuroscience : Mn. PMID 32436198 DOI: 10.1007/s12031-020-01594-9   
2020 Zhao H, He L, Li S, Huang H, Tang F, Han X, Lin Z, Tian C, Huang R, Zhou P, Huang J, Deng S, Li Z. Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene. Stem Cell Research. 46: 101864. PMID 32544858 DOI: 10.1016/j.scr.2020.101864   
2020 Huang L, Li L, Li Q, Chen J, Lin S, Li K, Fan D, Jin W, Li Y, Yang X, Xiong Y, Li M, Yang X. Different Clinical Phenotypes Caused by Three Missense Mutations in Three Chinese Families with Moderate Hemophilia A. Dna and Cell Biology. PMID 32589464 DOI: 10.1089/dna.2020.5359   
2020 Muthusamy B, Bellad A, Prasad P, Bandari AK, Bhuvanalakshmi G, Kiragasur RM, Girimaj SC, Pandey A. A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. Frontiers in Psychiatry. 11: 354. PMID 32499722 DOI: 10.3389/fpsyt.2020.00354   
2020 Zheng W, Zhou Z, Sha Q, Niu X, Sun X, Shi J, Zhao L, Zhang S, Dai J, Cai S, Meng F, Hu L, Gong F, Li X, Fu J, et al. Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility. American Journal of Human Genetics. PMID 32502391 DOI: 10.1016/j.ajhg.2020.05.010   
2020 Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Benito DN, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, et al. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. Genes. 11. PMID 32403337 DOI: 10.3390/genes11050539   
2020 Loh PR, Genovese G, McCarroll SA. Monogenic and polygenic inheritance become instruments for clonal selection. Nature. PMID 32581363 DOI: 10.1038/s41586-020-2430-6   
2020 Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, Amor DJ, Walsh M, Sznajer Y, Weiß L, Weidensee S, Chitayat D, Shannon P, Bermejo-Sánchez E, et al. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Human Mutation. PMID 32579715 DOI: 10.1002/humu.24067   
2020 Ye J, Lin M, Zhang C, Zhu X, Li S, Liu H, Yin J, Yu H, Zhu K. Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications. Biomedical Reports. 13: 43-48. PMID 32440349 DOI: 10.3892/br.2020.1303   
2020 Alagoz M, Kherad N, Turkmen S, Bulut H, Yuksel A. A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing. Experimental and Therapeutic Medicine. 19: 3505-3512. PMID 32346411 DOI: 10.3892/etm.2020.8658   
2020 Luo Y, Bai R, Wang Z, Zhu X, Xing J, Li X. STAR mutations causing non‑classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency. Molecular Medicine Reports. PMID 32627004 DOI: 10.3892/mmr.2020.11140   
2020 Reding K, Pick L. High Efficiency CRISPR/Cas9 Mutagenesis of the Gene in the Milkweed Bug s. Genetics. PMID 32493719 DOI: 10.1534/genetics.120.303269   
2020 Dunn JT, Mroczek J, Patel HR, Ragozzino ME. Tandospirone, a partial 5-HT1A receptor agonist, administered systemically or into anterior cingulate attenuates repetitive behaviors in Shank3B mice. The International Journal of Neuropsychopharmacology. PMID 32619232 DOI: 10.1093/ijnp/pyaa047   
2020 Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alföldi J, , , et al. Transcript expression-aware annotation improves rare variant interpretation. Nature. 581: 452-458. PMID 32461655 DOI: 10.1038/s41586-020-2329-2   
2020 Erwood S, Laselva O, Bily TMI, Brewer RA, Rutherford AH, Bear CE, Ivakine EA. Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing. Molecular Therapy. Methods & Clinical Development. 17: 1118-1128. PMID 32490033 DOI: 10.1016/j.omtm.2020.05.002   
2020 Zhang Y, Cheng X, Luo C, Lei M, Mao F, Shi Z, Cao W, Zhang J, Zhang Q. Congenital Myasthenic Syndrome Caused by a Novel Hemizygous Mutation. Frontiers in Pediatrics. 8: 185. PMID 32411636 DOI: 10.3389/fped.2020.00185   
2020 Benoit-Pilven C, Besson A, Putoux A, Benetollo C, Saccaro C, Guguin J, Sala G, Cologne A, Delous M, Lesca G, Padgett RA, Leutenegger AL, Lacroix V, Edery P, Mazoyer S. Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. Plos One. 15: e0235655. PMID 32628740 DOI: 10.1371/journal.pone.0235655   
2020 Guo L, Tang WM, Song YZ. [Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review]. Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics. 22: 608-613. PMID 32571460 DOI: 10.7499/j.issn.1008-8830.2001102   
2020 You C, Zeng W, Deng L, Lei Z, Gao X, Zhang VW, Wang Y. Identification and Clinical Analysis of the First Nonsense Mutation in the Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa. Frontiers in Neurology. 11: 319. PMID 32431660 DOI: 10.3389/fneur.2020.00319   
2020 Kishore S, De Franco E, Cardenas-Diaz FL, Letourneau-Freiberg LR, Sanyoura M, Osorio-Quintero C, French DL, Greeley SAW, Hattersley AT, Gadue P. A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line. Cell Stem Cell. PMID 32442395 DOI: 10.1016/j.stem.2020.05.001   
2020 Maksemous N, Sutherland HG, Smith RA, Haupt LM, Griffiths LR. Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia. Biomedicines. 8. PMID 32466254 DOI: 10.3390/biomedicines8050134   
2020 Cederquist GY, Tchieu J, Callahan SJ, Ramnarine K, Ryan S, Zhang C, Rittenhouse C, Zeltner N, Chung SY, Zhou T, Chen S, Betel D, White RM, Tomishima M, Studer L. A Multiplex Human Pluripotent Stem Cell Platform Defines Molecular and Functional Subclasses of Autism-Related Genes. Cell Stem Cell. 27: 35-49.e6. PMID 32619517 DOI: 10.1016/j.stem.2020.06.004   
2020 Prins D, González Arias C, Klampfl T, Grinfeld J, Green AR. Mutant Calreticulin in the Myeloproliferative Neoplasms. Hemasphere. 4: e333. PMID 32382708 DOI: 10.1097/HS9.0000000000000333   
2020 Iancu D, Ashton E. Inherited Renal Tubulopathies-Challenges and Controversies. Genes. 11. PMID 32150856 DOI: 10.3390/genes11030277   
2020 Moore SJ, Murphy GG, Cazares VA. Turning strains into strengths for understanding psychiatric disorders. Molecular Psychiatry. PMID 32404949 DOI: 10.1038/s41380-020-0772-y   
2020 Yun Y, Ha Y. CRISPR/Cas9-Mediated Gene Correction to Understand ALS. International Journal of Molecular Sciences. 21. PMID 32471232 DOI: 10.3390/ijms21113801   
2020 Milind N, Preuss C, Haber A, Ananda G, Mukherjee S, John C, Shapley S, Logsdon BA, Crane PK, Carter GW. Transcriptomic stratification of late-onset Alzheimer's cases reveals novel genetic modifiers of disease pathology. Plos Genetics. 16: e1008775. PMID 32492070 DOI: 10.1371/journal.pgen.1008775   
2020 Tran Mau-Them F, Moutton S, Racine C, Vitobello A, Bruel AL, Nambot S, Kushner SA, de Vrij FMS, Lehalle D, Jean-Marçais N, Lecoquierre F, Delanne J, Thevenon J, Poe C, Jouan T, et al. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders. Human Genetics. PMID 32399599 DOI: 10.1007/s00439-020-02178-8   
2020 El Waly B, Mignon-Ravix C, Cacciagli P, Buhler E, Ben Zeev B, Villard L. Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria. European Journal of Human Genetics : Ejhg. PMID 32488097 DOI: 10.1038/s41431-020-0659-z   
2020 Gorelick AN, Sánchez-Rivera FJ, Cai Y, Bielski CM, Biederstedt E, Jonsson P, Richards AL, Vasan N, Penson AV, Friedman ND, Ho YJ, Baslan T, Bandlamudi C, Scaltriti M, Schultz N, et al. Phase and context shape the function of composite oncogenic mutations. Nature. PMID 32461694 DOI: 10.1038/s41586-020-2315-8   
2020 Won SY, Kim YC, Jeong BH. First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene () in Cattle. International Journal of Molecular Sciences. 21. PMID 32549191 DOI: 10.3390/ijms21124246   
2020 Zhao X, Shang X, Chen C, Liu L, Wang C, Zhao G, Zhang J, Kong X. Identification of four novel mutations in the gene identified in Chinese patients with X-linked Alport syndrome. Biomedical Reports. 13: 4. PMID 32607233 DOI: 10.3892/br.2020.1311