Abbie M. Maguire, Ph.D. - Related publications

2012-2017 Molecular Biology, Cell Biology and Biochemistry Brown University, Providence, RI 
 2017- Molecular Biology, Cell Biology and Biochemistry Brown University, Providence, RI 
NOTE: We are testing a new system for identifying relevant work based on semantic analysis that identifies similarities between recently published papers and the current author's publications. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches.
41 most relevant papers in past 60 days:
Year Citation  Score
2021 Wang T, Zhang Y, Liu L, Wang Y, Chen H, Fan T, Li J, Xia K, Sun Z. Targeted sequencing and integrative analysis of 3195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes. Journal of Genetics and Genomics = Yi Chuan Xue Bao. PMID 33994118 DOI: 10.1016/j.jgg.2021.03.002   
2021 Conforti R, Iovine S, Santangelo G, Capasso R, Cirillo M, Fratta M, Caranci F. ODLURO syndrome: personal experience and review of the literature. La Radiologia Medica. 126: 316-322. PMID 32691224 DOI: 10.1007/s11547-020-01255-2   
2021 Chen B, Chen S, Xiong J, Yin F. Cardiofaciocutaneous syndrome with BRAF gene mutation: A case report and literature review. Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences. 46: 432-437. PMID 33967092 DOI: 10.11817/j.issn.1672-7347.2021.190756   
2021 Lesage S, Mangone G, Tesson C, Bertrand H, Benmahdjoub M, Kesraoui S, Arezki M, Singleton A, Corvol JC, Brice A. Clinical Variability of -Associated Early-Onset Parkinsonism. Frontiers in Neurology. 12: 648457. PMID 33841314 DOI: 10.3389/fneur.2021.648457   
2021 Levy JA, LaFlamme CW, Tsaprailis G, Crynen G, Page DT. Dyrk1a Mutations Cause Undergrowth of Cortical Pyramidal Neurons via Dysregulated Growth Factor Signaling. Biological Psychiatry. PMID 33840455 DOI: 10.1016/j.biopsych.2021.01.012   
2021 Wang M, Wang R, Wang H, Chen C, Qin J, Gao X, Yu L. Difference in gene mutation profile in patients with refractory/relapsed versus newly diagnosed acute myeloid leukemia based on targeted next-generation sequencing. Leukemia & Lymphoma. 1-12. PMID 33913388 DOI: 10.1080/10428194.2021.1919661   
2021 Ollodart AR, Yeh CC, Miller AW, Shirts BH, Gordon AS, Dunham MJ. Multiplexing Mutation Rate Assessment: Determining Pathogenicity of Msh2 Variants in S. cerevisiae. Genetics. PMID 33848333 DOI: 10.1093/genetics/iyab058   
2021 Wang L, Li J, Wu G, Kong X. A novel compound heterozygous variant in leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing. The Journal of International Medical Research. 49: 3000605211010644. PMID 33900868 DOI: 10.1177/03000605211010644   
2021 Miccio A, Antoniou P, Ciura S, Kabashi E. Novel genome-editing-based approaches to treat motor neuron diseases: promises and challenges. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 33823304 DOI: 10.1016/j.ymthe.2021.04.003   
2021 Koire A, Katsonis P, Kim YW, Buchovecky C, Wilson SJ, Lichtarge O. A method to delineate de novo missense variants across pathways prioritizes genes linked to autism. Science Translational Medicine. 13. PMID 34011629 DOI: 10.1126/scitranslmed.abc1739   
2021 Hasegawa Y, Takahashi Y, Kezuka Y, Obara W, Kato Y, Tamura S, Onodera K, Segawa T, Oda T, Sato M, Nata K, Nonaka T, Ishigaki Y. Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism. Journal of the Endocrine Society. 5: bvaa176. PMID 33381670 DOI: 10.1210/jendso/bvaa176   
2021 Pijuan J, Ortigoza-Escobar JD, Ortiz J, Alcalá A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F, Hoenicka J. PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder. Autism Research : Official Journal of the International Society For Autism Research. PMID 33749153 DOI: 10.1002/aur.2502   
2021 Makarik TV, Abdullaev AO, Nikulina EE, Treglazova SA, Stepanova EE, Subortseva IN, Kovrigina AM, Melikyan AL, Kulikov SM, Sudarikov AB. Low V617F Allele Burden in Ph-Negative Chronic Myeloproliferative Neoplasms Is Associated with Additional or Gene Mutations. Genes. 12. PMID 33921387 DOI: 10.3390/genes12040559   
2021 Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, ... , ... , ... , et al. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. PMID 33953289 DOI: 10.1038/s41375-021-01251-z   
2021 Lu X, Han C, Mai J, Jiang X, Liao J, Hou Y, Cui D. Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients. Frontiers in Genetics. 12: 657040. PMID 33936175 DOI: 10.3389/fgene.2021.657040   
2021 Rivera OD, Mallory MJ, Quesnel-Vallières M, Chatrikhi R, Schultz DC, Carroll M, Barash Y, Cherry S, Lynch KW. Alternative splicing redefines landscape of commonly mutated genes in acute myeloid leukemia. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 33876749 DOI: 10.1073/pnas.2014967118   
2021 Boluda-Navarro M, Ibáñez M, Liquori A, Franco-Jarava C, Martínez-Gallo M, Rodríguez-Vega H, Teresa J, Carreras C, Such E, Zúñiga Á, Colobran R, Cervera JV. Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome. Frontiers in Immunology. 12: 625591. PMID 33868243 DOI: 10.3389/fimmu.2021.625591   
2021 Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Haeringen AV, et al. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain : a Journal of Neurology. PMID 33880529 DOI: 10.1093/brain/awab052   
2021 Arteche-López A, Gómez Rodríguez MJ, Sánchez Calvin MT, Quesada-Espinosa JF, Lezana Rosales JM, Palma Milla C, Gómez-Manjón I, Hidalgo Mayoral I, Pérez de la Fuente R, Díaz de Bustamante A, Darnaude MT, Gil-Fournier B, Ramiro León S, Ramos Gómez P, Sierra Tomillo O, et al. Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test. Genes. 12. PMID 33921431 DOI: 10.3390/genes12040560   
2021 Wu S, Pan D, Chen W, Ren F, Zheng D, Liu K. Clinical characteristics and gene mutation analysis of clear cell tumor of the lung. Indian Journal of Pathology & Microbiology. 64: 362-368. PMID 33851636 DOI: 10.4103/IJPM.IJPM_65_19   
2021 Adeyanju AO, Sattler SE, Rich PJ, Rivera-Burgos LA, Xu X, Ejeta G. Sorghum () Gene Links Lignin Biosynthesis to Folate Metabolism. Genes. 12. PMID 33924915 DOI: 10.3390/genes12050660   
2021 Zhang R, He H, Yuan B, Wu Z, Wang X, Du Y, Chen Y, Qiu Z. An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development. Neuroscience Bulletin. PMID 33948885 DOI: 10.1007/s12264-021-00685-w   
2021 Briuglia S, Calabrò M, Capra AP, Briguori S, La Rosa MA, Crisafulli C. Molecular Pathways within Autism Spectrum Disorder Endophenotypes. Journal of Molecular Neuroscience : Mn. PMID 33492615 DOI: 10.1007/s12031-020-01782-7   
2021 Longo F, Klann E. Reciprocal control of translation and transcription in autism spectrum disorder. Embo Reports. e52110. PMID 33977633 DOI: 10.15252/embr.202052110   
2021 Stone EJ, Kolb SJ, Brown A. A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L. Cytoskeleton (Hoboken, N.J.). PMID 33993654 DOI: 10.1002/cm.21676   
2021 Dang L, Zhou X, Zhong X, Yu W, Huang S, Liu H, Chen Y, Zhang W, Yuan L, Li L, Huang X, Li G, Liu J, Tong G. Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 33974999 DOI: 10.1016/j.ymthe.2021.05.007   
2021 Dong Y, Du R, Fan LL, Jin JY, Huang H, Chen YQ, Bi DD, Xiang R. Whole-Exome Sequencing Identifies a Novel Mutation in a Chinese Family with Atrioventricular Block. Biomed Research International. 2021: 9247541. PMID 33959666 DOI: 10.1155/2021/9247541   
2021 Gogou M, Pavlou E, Kimiskidis V, Kouskouras K, Pavlidou E, Papadopoulos T, Haidopoulou K, Fidani L. Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees. Journal of Pediatric Genetics. 10: 147-151. PMID 33996186 DOI: 10.1055/s-0040-1709695   
2021 Xie LJ, Ruan DD, Zhang JH, Li Y, Chen L, Yan ML, Yu MD, Luo JW, Zhang HZ. Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype. Canadian Journal of Gastroenterology & Hepatology. 2021: 6610434. PMID 33954154 DOI: 10.1155/2021/6610434   
2021 Khudiakova KA, Neretina TY, Kondrashov AS. Two linked loci under mutation-selection balance and Muller's ratchet. Journal of Theoretical Biology. 524: 110729. PMID 33901507 DOI: 10.1016/j.jtbi.2021.110729   
2021 Qian Y, Hu G, Chen M, Liu B, Yan K, Zhou C, Yu Y, Dong M. Novel deep intronic and frameshift mutations causing a TRIP11-related disorder. American Journal of Medical Genetics. Part A. PMID 34014608 DOI: 10.1002/ajmg.a.62260   
2021 Li K, Fang Z, Zhao G, Li B, Chen C, Xia L, Wang L, Luo T, Wang X, Wang Z, Zhang Y, Jiang Y, Pan Q, Hu Z, Guo H, et al. Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders. Journal of Autism and Developmental Disorders. PMID 33970367 DOI: 10.1007/s10803-021-05031-7   
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   
2021 Li R, Gong F, Pan H, Liang H, Miao H, Zhao Y, Duan L, Yang H, Wang L, Chen S, Zhu H. Identification and Functional Verification of Two Novel Mutations of Gene in the Chinese Children with Laron Syndrome. Frontiers in Endocrinology. 12: 605736. PMID 33912130 DOI: 10.3389/fendo.2021.605736   
2021 Ma MG, Liu XR, Wu Y, Wang J, Li BM, Shi YW, Su T, Li B, Liu DT, Yi YH, Liao WP. Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia. Frontiers in Neuroscience. 15: 629610. PMID 33897349 DOI: 10.3389/fnins.2021.629610   
2021 Wei Y, Qian M. Case Report: A Novel Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy. Frontiers in Pediatrics. 9: 604105. PMID 33718295 DOI: 10.3389/fped.2021.604105   
2021 Escher J. How Family Histories Can Inform Research About Germ Cell Exposures: The Example of Autism. Biology of Reproduction. PMID 33959752 DOI: 10.1093/biolre/ioab092   
2021 Yoshizawa T, Uchibori K, Araki M, Matsumoto S, Ma B, Kanada R, Seto Y, Oh-Hara T, Koike S, Ariyasu R, Kitazono S, Ninomiya H, Takeuchi K, Yanagitani N, Takagi S, et al. Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity. Npj Precision Oncology. 5: 32. PMID 33863983 DOI: 10.1038/s41698-021-00170-7   
2021 Maimaitiming J, Amuti G, TuHuTi A, Chen Y, Song XX, Wang J, Alimu A, Zhang K, Abudounaiyimu M, Jiang J, Wang XL, Guo YY. Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review. Pharmacogenomics and Personalized Medicine. 14: 409-416. PMID 33854360 DOI: 10.2147/PGPM.S297607   
2021 Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY. Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort. Genes. 12. PMID 33946315 DOI: 10.3390/genes12050675   
2021 Mariscal MG, Berry-Kravis E, Buxbaum JD, Ethridge LE, Filip-Dhima R, Foss-Feig JH, Kolevzon A, Modi ME, Mosconi MW, Nelson CA, Powell CM, Siper PM, Soorya L, Thaliath A, Thurm A, ... , et al. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Molecular Autism. 12: 29. PMID 33910615 DOI: 10.1186/s13229-020-00411-9