William B. Dobyns - Related publications

Human Genetics University of Chicago, Chicago, IL 
Pediatric Neurology
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.
50 most relevant papers in past 60 days:
Year Citation  Score
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 Liu X, Duan X, Zhang Y, Fan D. Clinical and Genetic Diversity of Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease. Frontiers in Neurology. 11: 630. PMID 32719652 DOI: 10.3389/fneur.2020.00630   
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   
2020 Bilbao Garay I, Daly AF, Egaña Zunzunegi N, Beckers A. Pituitary Disease in Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview. Journal of Clinical Medicine. 9. PMID 32604740 DOI: 10.3390/jcm9062003   
2020 Han E, Patel NA, Yannuzzi NA, Laura DM, Fan KC, Negron CI, Prakhunhungsit S, Thorson WL, Berrocal AM. A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations. Ophthalmic Genetics. 1-5. PMID 32543263 DOI: 10.1080/13816810.2020.1772315   
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 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 Long Z, Li H, Du Y, Chen M, Zhuang J, Han B. Gene mutation profile in patients with acquired pure red cell aplasia. Annals of Hematology. 99: 1749-1754. PMID 32594217 DOI: 10.1007/s00277-020-04154-8   
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 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 Wu RC, Chen SJ, Chen HC, Tan KT, Jung SM, Lin CY, Chao AS, Huang KG, Chou HH, Chang TC, Chao A, Lai CH. Comprehensive genomic profiling reveals ubiquitous KRAS mutations and frequent PIK3CA mutations in ovarian seromucinous borderline tumor. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. PMID 32616873 DOI: 10.1038/s41379-020-0611-3   
2020 Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg D, Mavridou I, Michelakakis H. Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece. Molecular Genetics and Metabolism Reports. 24: 100614. PMID 32547927 DOI: 10.1016/j.ymgmr.2020.100614   
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 Kumar SH, Athimoolam K, Suraj M, Das Christu Das MS, Muralidharan A, Jeyam D, Ashokan J, Karthikeyan P, Krishna R, Khanna-Gupta A, Bremadesam Raman L. Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities. Plos One. 15: e0232654. PMID 32559196 DOI: 10.1371/journal.pone.0232654   
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 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 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 Zou ZY, Che CH, Feng SY, Fang XY, Huang HP, Liu CY. Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-7. PMID 32720527 DOI: 10.1080/21678421.2020.1797815   
2020 Freitas HC, Torrezan GT, da Cunha IW, Macedo MP, Karen de Sá V, Corassa M, Ferreira ENE, Saito AO, Dal Molin GZ, Cordeiro de Lima VC, Carraro DM. Mutational Portrait of Lung Adenocarcinoma in Brazilian Patients: Past, Present, and Future of Molecular Profiling in the Clinic. Frontiers in Oncology. 10: 1068. PMID 32714871 DOI: 10.3389/fonc.2020.01068   
2020 Vaché C, Puechberty J, Faugère V, Darmaisin F, Liquori A, Baux D, Blanchet C, Garcia-Garcia G, Meunier I, Pellestor F, Koenig M, Roux AF. A 4.6 Mb Inversion Leading to - and - Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1. Frontiers in Genetics. 11: 623. PMID 32714370 DOI: 10.3389/fgene.2020.00623   
2020 Shahid S, Shakeel M, Siddiqui S, Ahmed S, Sohail M, Khan IA, Abid A, Shamsi T. Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population. Frontiers in Genetics. 11: 560. PMID 32655615 DOI: 10.3389/fgene.2020.00560   
2020 Xiu Y, Lv Z, Wang D, Chen X, Huang S, Pan M. Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family. Journal of Molecular Neuroscience : Mn. PMID 32705527 DOI: 10.1007/s12031-020-01650-4   
2020 Essawi M, Mazen I, Fawaz L, Hassan H, ElBagoury N, Peter M, Gaafar K, Amer M, Nabil W, Hohmann G, Soliman H, Sippell W. Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt. Journal of Pediatric Endocrinology & Metabolism : Jpem. PMID 32614782 DOI: 10.1515/jpem-2019-0575   
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 Jang MA, Seo MY, Choi KJ, Hong DS. A Rare Case of Essential Thrombocythemia with Coexisting and Driver Mutations. Journal of Korean Medical Science. 35: e168. PMID 32537949 DOI: 10.3346/jkms.2020.35.e168   
2020 Liang Z, Hu W, Li S, Wei Z, Zhu Z. Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China. Medical Science Monitor : International Medical Journal of Experimental and Clinical Research. 26: e923926. PMID 32579544 DOI: 10.12659/MSM.923926   
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 Liang H, Miao H, Pan H, Yang H, Gong F, Duan L, Chen S, Wang L, Zhu H. GROWTH PROMOTING THERAPIES MAYBE USEFUL IN SHORT STATURE PATIENTS WITH NON-SPECIFIC SKELETAL ABNORMALITIES CAUSED BY HETEROZYGOUS MUTATIONS: SIX CHINESE CASES AND LITERATURE REVIEW. Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. PMID 32658585 DOI: 10.4158/EP-2019-0518   
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 Gadoury-Levesque V, Dong L, Su R, Chen J, Zhang K, Risma KA, Marsh RA, Sun M. Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood Advances. 4: 2578-2594. PMID 32542393 DOI: 10.1182/bloodadvances.2020001605   
2020 Kao HJ, Chiang HL, Chen HH, Fan PC, Tu YF, Chou YY, Hwu WL, Lin CL, Kwok PY, Lee NC. De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome. Human Mutation. PMID 32652807 DOI: 10.1002/humu.24080   
2020 Justine Perrin R, Rousset-Rouvière C, Garaix F, Cano A, Conrath J, Boyer O, Tsimaratos M. mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy. Jimd Reports. 54: 37-44. PMID 32685349 DOI: 10.1002/jmd2.12068   
2020 Nolte JW, Alders M, Karssemakers LHE, Becking AG, Hennekam RCM. Molecular basis of unilateral condylar hyperplasia? International Journal of Oral and Maxillofacial Surgery. PMID 32423691 DOI: 10.1016/j.ijom.2020.01.017   
2020 Song A, Yang Y, Wang Y, Liu S, Nie M, Jiang Y, Li M, Xia W, Wang O, Xing X. GERMLINE MUTATION SCREENING IN CHINESE PRIMARY HYPERPARATHYROIDISM PATIENTS. Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. PMID 32576032 DOI: 10.4158/EP-2020-0132   
2020 Yang L, Zhang X, MacKay M, Foox J, Hou Q, Zheng X, Zhou R, Huang M, Jing Z, Mason CE, Wu S. Identification of Radioresponsive Genes in Esophageal Cancer from Longitudinal and Single Cell Exome Sequencing. International Journal of Radiation Oncology, Biology, Physics. PMID 32561500 DOI: 10.1016/j.ijrobp.2020.06.015   
2020 Marçais A, Lhermitte L, Artesi M, Laurent C, Durkin K, Hahaut V, Rosewick N, Suarez F, Sibon D, Cheminant M, Avettand-Fenoel V, Bruneau J, Georges M, Pique C, Van den Broeke A, et al. Targeted deep sequencing reveals clonal and subclonal mutational signatures in Adult T-cell leukemia/lymphoma and defines an unfavorable indolent subtype. Leukemia. PMID 32555298 DOI: 10.1038/s41375-020-0900-3   
2020 Huang YF. Unified inference of missense variant effects and gene constraints in the human genome. Plos Genetics. 16: e1008922. PMID 32667917 DOI: 10.1371/journal.pgen.1008922   
2020 Soares AR, Figueiredo CM, Quelhas D, Silva ES, Freitas J, Oliveira MJ, Faria S, Fortuna AM, Borges T. Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case Concerning Gene Pleiotropy. European Endocrinology. 16: 66-68. PMID 32595772 DOI: 10.17925/EE.2020.16.1.66   
2020 Liang C, Luo L, Bai J, Bai L, Bian DD, Ren Y, Liu S, Chen Y, Duan ZP, Zheng SJ. [Analysis of mutation site characteristics of Gilbert syndrome and Crigler--Najjar syndrome in relation to uridine diphosphate glucuronosyltransferase A1 gene]. Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology. 28: 428-433. PMID 32536060 DOI: 10.3760/cma.j.cn501113-20200217-00051   
2020 Park S, Lee E, Park S, Lee S, Nam SJ, Kim SW, Lee JE, Yu JH, Kim JY, Ahn JS, Im YH, Park WY, Park K, Park YH. Clinical characteristics and exploratory genomic analyses of germline BRCA1 or BRCA2 mutations in breast cancer. Molecular Cancer Research : McR. PMID 32554602 DOI: 10.1158/1541-7786.MCR-19-1108   
2020 Wang D, Niu Y, Tan J, Chen Y, Xu H, Ling Q, Gong J, Ling L, Wang J, Wang T, Liu J. Combined in-vitro and in-silico analyses of FGFR1 variants: genotype-phenotype study in idiopathic hypogonadotropic hypogonadism. Clinical Genetics. PMID 32666525 DOI: 10.1111/cge.13814   
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 Yang L, Guo B, Zhu W, Wang L, Han B, Che Y, Guo L. Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report. Bmc Pediatrics. 20: 287. PMID 32517662 DOI: 10.1186/s12887-020-02027-7   
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 Pathan RK, Biswas M, Khandaker MU. Time series prediction of COVID-19 by mutation rate analysis using recurrent neural network-based LSTM model. Chaos, Solitons, and Fractals. 138: 110018. PMID 32565626 DOI: 10.1016/j.chaos.2020.110018   
2020 Franklin JP, Cooper-Knock J, Baheerathan A, Moll T, Männikkö R, Heverin M, Hardiman O, Shaw PJ, Hanna MG. Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-4. PMID 32619119 DOI: 10.1080/21678421.2020.1786128   
2020 Umene R, Kitamura M, Arai H, Matsumura K, Ishimaru Y, Maeda K, Uramatsu T, Obata Y, Mori T, Sohara E, Uchida S, Nishino T. Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency. Cen Case Reports. PMID 32506365 DOI: 10.1007/s13730-020-00489-3   
2020 Langabeer SE, Lee Tokar L, Kearney L, O'Brien C, Thavarajah K, Barrett A, McManus J, O'Leary H. Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare W515S Mutation. Case Reports in Hematology. 2020: 8375986. PMID 32637179 DOI: 10.1155/2020/8375986   
2020 Song J, Zhang JW, Fu J, Pang M, Li G, Ma MM. [Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita]. Zhonghua Nei Ke Za Zhi. 59: 535-539. PMID 32594687 DOI: 10.3760/cma.j.cn112138-20191014-00690