Michael Ludwig - Related publications

Affiliations: 
University of Chicago, Chicago, IL 
Area:
evolution of development
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50 most relevant papers in past 60 days:
Year Citation  Score
2021 Ferese R, Campopiano R, Scala S, D'Alessio C, Storto M, Buttari F, Centonze D, Logroscino G, Zecca C, Zampatti S, Fornai F, Cianci V, Manfroi E, Giardina E, Magnani M, et al. Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants. Frontiers in Genetics. 12: 682050. PMID 34354735 DOI: 10.3389/fgene.2021.682050   
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 Wang X, Xiao H, Yao Y, Xu K, Liu X, Su B, Zhang H, Guan N, Zhong X, Zhang Y, Ding J, Wang F. Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5. Frontiers in Genetics. 12: 697085. PMID 34295353 DOI: 10.3389/fgene.2021.697085   
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 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 Al Alawi I, Al Riyami M, Barroso-Gil M, Powell L, Olinger E, Al Salmi I, Sayer JA. The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients. F1000research. 10: 207. PMID 34354814 DOI: 10.12688/f1000research.40338.2   
2021 Guo Y, Liao X, Zou P, Xiao J. Acute myeloid leukemia arising to genetic susceptibility genes related T cell acute lymphoblastic leukemia: case report. Ame Case Reports. 5: 29. PMID 34312608 DOI: 10.21037/acr-20-151   
2021 Guo Y, Liao X, Zou P, Xiao J. Acute myeloid leukemia arising to genetic susceptibility genes related T cell acute lymphoblastic leukemia: case report. Ame Case Reports. 5: 29. PMID 34312608 DOI: 10.21037/acr-20-151   
2021 Hou X, Sun J, Liu C, Hao J. Case Report: Wiskott-Aldrich Syndrome Caused by Extremely Skewed X-Chromosome Inactivation in a Chinese Girl. Frontiers in Pediatrics. 9: 691524. PMID 34307257 DOI: 10.3389/fped.2021.691524   
2021 Hou X, Sun J, Liu C, Hao J. Case Report: Wiskott-Aldrich Syndrome Caused by Extremely Skewed X-Chromosome Inactivation in a Chinese Girl. Frontiers in Pediatrics. 9: 691524. PMID 34307257 DOI: 10.3389/fped.2021.691524   
2021 Asiri A, Alwadaani D, Umair M, Alhamoudi KM, Almuhanna MH, Nasir A, Alrfaei BM, Al Tuwaijri A, Barhoumi T, Alyafee Y, Almuzzaini B, Aldrees M, Ballow M, Alayyar L, Al Abdulrahman A, et al. Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo Gene Defect: Expanding the Molecular and Phenotypic Spectrum. Genes. 12. PMID 33672558 DOI: 10.3390/genes12020294   
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 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 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 Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, Neuhann T, Kelbsch C, Tonagel F, Wilhelm H, Kohl S, Wissinger B. Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants. Plos One. 16: e0253987. PMID 34242285 DOI: 10.1371/journal.pone.0253987   
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 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 Nakaguma M, Ferreira NGBP, Benedetti AFF, Madi MC, Silva JM, Li JZ, Ma Q, Bilge Ozel A, Fang Q, Narcizo AM, Cardoso LC, Montenegro LR, Funari MFA, Nishi MY, Arnhold IJP, et al. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum. Genes. 12. PMID 34440302 DOI: 10.3390/genes12081128   
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 Chao JY, Chang HC, Jiang JK, Yang CY, Chen FH, Lai YL, Lin WJ, Li CY, Wang SC, Yang MH, Lin YF, Cheng WC. Using bioinformatics approaches to investigate driver genes and identify BCL7A as a prognostic gene in colorectal cancer. Computational and Structural Biotechnology Journal. 19: 3922-3929. PMID 34306573 DOI: 10.1016/j.csbj.2021.06.044   
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 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 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 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 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 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 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 Wang F, Wang F, Zhou X, Yi Y, Zhao J. A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia. Frontiers in Pediatrics. 9: 671536. PMID 34485189 DOI: 10.3389/fped.2021.671536   
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 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 Ahmed Z, Renart EG, Zeeshan S, Dong X. Advancing clinical genomics and precision medicine with GVViZ: FAIR bioinformatics platform for variable gene-disease annotation, visualization, and expression analysis. Human Genomics. 15: 37. PMID 34174938 DOI: 10.1186/s40246-021-00336-1   
2021 Kasak L, Rull K, Yang T, Roden DM, Laan M. Recurrent Pregnancy Loss and Concealed Long-QT Syndrome. Journal of the American Heart Association. e021236. PMID 34398675 DOI: 10.1161/JAHA.121.021236   
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 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 Ahmed S, Gul S, Akhlaq M, Hussain A, Tariq Khan S, Rehman H, Hanif Bangash M, Al Mughairbi F, Hamid Hamdard M. Estimation of polymorphisms in the drug-metabolizing enzyme, cytochrome gene in six major ethnicities of Pakistan. Bioengineered. 12: 4442-4451. PMID 34308762 DOI: 10.1080/21655979.2021.1955809   
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 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 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 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 Reuter MS, Chaturvedi RR, Jobling RK, Pellecchia G, Hamdan O, Sung WWL, Nalpathamkalam T, Attaluri P, Silversides CK, Wald RM, Marshall CR, Williams S, Keavney BD, Thiruvahindrapuram B, Scherer SW, et al. Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. Circulation. Genomic and Precision Medicine. PMID 34328347 DOI: 10.1161/CIRCGEN.121.003410   
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 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 Izadi F, Sharpe BP, Breininger SP, Secrier M, Gibson J, Walker RC, Rahman S, Devonshire G, Lloyd MA, Walters ZS, Fitzgerald RC, Rose-Zerilli MJJ, Underwood TJ, On Behalf Of Occams. Genomic Analysis of Response to Neoadjuvant Chemotherapy in Esophageal Adenocarcinoma. Cancers. 13. PMID 34298611 DOI: 10.3390/cancers13143394   
2021 Ramzan S, Tennstedt S, Tariq M, Khan S, Noor Ul Ayan H, Ali A, Munz M, Thiele H, Korejo AA, Mughal AR, Jamal SZ, Nürnberg P, Baig SM, Erdmann J, Ahmad I. A Novel Missense Mutation in Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family. Genes. 12. PMID 34440456 DOI: 10.3390/genes12081282   
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   
2021 Tsai MC, Chou YY, Li CY, Wang YC, Yu HW, Chen CH, Chen PC. New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies. Frontiers in Genetics. 12: 594285. PMID 34394176 DOI: 10.3389/fgene.2021.594285   
2021 Dong B, Liang J, Li D, Song W, Song J, Zhu M, Zhao S, Ma Y, Yang T. Identification of a Prognostic Signature Associated With the Homeobox Gene Family for Bladder Cancer. Frontiers in Molecular Biosciences. 8: 688298. PMID 34368227 DOI: 10.3389/fmolb.2021.688298