James T. Bennett - Related publications

2006 New York University, New York, NY, United States 
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50 most relevant papers in past 60 days:
Year Citation  Score
2021 Sayed Amr K, El-Bassyouni HT, Abdel Hady S, Mostafa MI, Mehrez MI, Coviello D, El-Kamah GY. Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease. Genes. 12. PMID 34680947 DOI: 10.3390/genes12101552   
2021 Chen LX, Xu HF, Wang PS, Yang XX, Wu ZY, Li HF. Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China. Frontiers in Genetics. 12: 746060. PMID 34721532 DOI: 10.3389/fgene.2021.746060   
2021 Marques Couto C, de Melo Queiroz E, Nogueira R, Pires Duarte Küsel AP, J M Nascimento O. A Brazilian multicentre study on the clinical and epidemiological profiles of 1116 patients with amyotrophic lateral sclerosis and its phenotypic variants. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-10. PMID 34823435 DOI: 10.1080/21678421.2021.2007953   
2021 Creasey T, Barretta E, Ryan SL, Butler E, Kirkwood AA, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Morley N, et al. Genetic and genomic analysis of acute lymphoblastic leukaemia in older adults reveals a distinct profile of abnormalities: analysis of 210 patients from the UKALL14 and UKALL60+ clinical trials. Haematologica. PMID 34788984 DOI: 10.3324/haematol.2021.279177   
2021 Wang W, Li J, Lan L, Xie L, Xiong F, Guan J, Wang H, Wang Q. Auditory Neuropathy as the Initial Phenotype for Patients With c.2452 G > A: Genotype-Phenotype Study and CI Management. Frontiers in Cell and Developmental Biology. 9: 749484. PMID 34692702 DOI: 10.3389/fcell.2021.749484   
2021 Al-Muhaizea MA, Aldeeb H, Almass R, Jaber H, Binhumaid F, Alquait L, Abukhalid M, Aldhalaan H, Alsagob M, Al-Bakheet A, Aldosary M, Alkofide H, Alrasheed MM, Colak D, Kaya N. Genetics of ataxia telangiectasia in a highly consanguineous population. Annals of Human Genetics. PMID 34582042 DOI: 10.1111/ahg.12445   
2021 Orlando F, Naddei R, Stellacci E, Gallinoro CM, Melis D, Tartaglia M, Alessio M. Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review. Clinical Rheumatology. 40: 4341-4348. PMID 33646446 DOI: 10.1007/s10067-021-05653-3   
2021 Nejabat M, Inaloo S, Sheshdeh AT, Bahramjahan S, Sarvestani FM, Katibeh P, Nemati H, Tabei SMB, Faghihi MA. Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran. Frontiers in Pediatrics. 9: 734946. PMID 34540776 DOI: 10.3389/fped.2021.734946   
2021 Gusho CA, Weiss MC, Lee L, Gitelis S, Blank AT, Wang D, Batus M. The clinical utility of next-generation sequencing for bone and soft tissue sarcoma. Acta Oncologica (Stockholm, Sweden). 1-7. PMID 34686105 DOI: 10.1080/0284186X.2021.1992009   
2021 Liu Y, Huang Z, Sun C, Shen X, Li W, Li Q. [Difference of gene mutation frequency between patients with large vestibular aqueduct syndrome and/or Mondini dysplasia]. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery. 35: 891-895. PMID 34628810 DOI: 10.13201/j.issn.2096-7993.2021.10.006   
2021 Thomas MM, Ashaat EA, Otaify GA, Ismail S, Essawi ML, Abdel-Hamid MS, Hassan HA, Alsaiedi SA, Aglan M, El Ruby MO, Temtamy S. First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous Mutations. Molecular Syndromology. 12: 279-288. PMID 34602954 DOI: 10.1159/000516607   
2021 Beryozkin A, Aweidah H, Carrero Valenzuela RD, Berman M, Iguzquiza O, Cremers FPM, Khan MI, Swaroop A, Amer R, Khateb S, Ben-Yosef T, Sharon D, Banin E. Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients. Frontiers in Cell and Developmental Biology. 9: 746781. PMID 34722527 DOI: 10.3389/fcell.2021.746781   
2021 Min JY, Park SJ, Kang EJ, Hwang SY, Han SH. Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study. Neurogenetics. PMID 34741685 DOI: 10.1007/s10048-021-00674-1   
2021 Yabe M, Omarbekova AZ, Hsu M, May H, Arcila ME, Liu Y, Dogan A, Brunner AM, Nardi V, Hasserjian RP, Klimek VM. Combined Phenotype Score Is Associated with the Clinical Outcome of -Mutated Myelodysplastic Syndromes. Cancers. 13. PMID 34771665 DOI: 10.3390/cancers13215502   
2021 Pagnamenta AT, Jackson A, Perveen R, Beaman G, Petts G, Gupta A, Hyder Z, Chung BH, Kan AS, Cheung KW, Kerstjens-Frederikse WS, Abbott KM, , Elpeleg O, Taylor JC, et al. Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects. Clinical Genetics. PMID 34612517 DOI: 10.1111/cge.14071   
2021 Kumar A, Sharma R, Faruq M, Kumar M, Sharma S, Werner R, Hiort O, Vandana J. Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. 1-12. PMID 34689141 DOI: 10.1159/000519047   
2021 Gal DB, Morales A, Rojahn S, Callis T, Garcia J, Priest JR, Truty R, Vatta M, Nussbaum RL, Esplin ED, Hollander SA. Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions. Pediatric Cardiology. PMID 34714385 DOI: 10.1007/s00246-021-02764-1   
2021 Chen H, Li N, Xu Y, Li G, Song C, Yao RE, Yu T, Wang J, Yang L. Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype. Neurogenetics. PMID 34716526 DOI: 10.1007/s10048-021-00675-0   
2021 Silveira KC, Kanazawa TY, Silveira C, Lacarrubba-Flores MDJ, Carvalho BS, Cavalcanti DP. Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 187: 396-408. PMID 34529350 DOI: 10.1002/ajmg.c.31937   
2021 Molin A, Lemoine S, Kaufmann M, Breton P, Nowoczyn M, Ballandonne C, Coudray N, Mittre H, Richard N, Ryckwaert A, Lavillaureix A, Jones G, Bacchetta J, Kottler ML. Overlapping Phenotypes Associated With , , and Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D. Frontiers in Endocrinology. 12: 736240. PMID 34721296 DOI: 10.3389/fendo.2021.736240   
2021 Łoń I, Kunikowska J, Jędrusik P, Góra J, Toutounchi S, Placha G, Gaciong Z. Familial SDHB gene mutation in disseminated non-hypoxia-related malignant paraganglioma treated with [Y]Y/[Lu]Lu- DOTATATE. Intractable & Rare Diseases Research. 10: 207-213. PMID 34466344 DOI: 10.5582/irdr.2021.01047   
2021 Forero-Peña DA, Carrión-Nessi FS, Mendoza-Millán DL, Omaña-Ávila ÓD, Mejía-Bernard MD, Camejo-Ávila NA, Flora-Noda DM, Velásquez VL, Chacón-Labrador FR, Doval-Fernández JM, Maricuto AL, Grillet ME, Hernández-Villena JV, Vincenti-González MF, Paniz-Mondolfi AE, et al. First wave of COVID-19 in Venezuela: Epidemiological, clinical, and paraclinical characteristics of first cases. Journal of Medical Virology. PMID 34761824 DOI: 10.1002/jmv.27449   
2021 Yang H, Gong P, Jiao X, Niu Y, Zhou Q, Zhang Y, Yang Z. Variants in the Gene Associated With Infantile Spasms. Frontiers in Neurology. 12: 733178. PMID 34803881 DOI: 10.3389/fneur.2021.733178   
2021 Awan UA, Farooq N, Sarwar A, Jehangir HMS, Hashmi MS, Alamgir M, Waheed F, Khurram M, Ahmed H, Khattak AA, Afzal MS. Cytogenetic abnormalities in patients with hematological malignancies in Lahore city, Pakistan. Brazilian Journal of Biology = Revista Brasleira De Biologia. 83: e249911. PMID 34669802 DOI: 10.1590/1519-6984.249911   
2021 Demirel E, Şahin A. Predictive Value of Blood Parameters and Comorbidities on Three-Month Mortality in Elderly Patients With Hip Fracture. Cureus. 13: e18634. PMID 34765379 DOI: 10.7759/cureus.18634   
2021 Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, de Augusto Isihi LM, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, et al. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy. Brain : a Journal of Neurology. PMID 34515763 DOI: 10.1093/brain/awab301   
2021 Shi J, Xu K, Hu JP, Xie Y, Zhang X, Zhang XH, Jin ZB, Li Y. Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy. Journal of Clinical Medicine. 10. PMID 34830511 DOI: 10.3390/jcm10225229   
2021 Liu Y, GuLiBaHa M, Yue YB, Li MW, Cao SB, Yan M. An isolated childhood myeloid sarcoma with germline MSH6 mutation-a case report. Translational Pediatrics. 10: 2136-2143. PMID 34584885 DOI: 10.21037/tp-21-326   
2021 Mehrabi M, Morris TA, Cang Z, Nguyen CHH, Sha Y, Asad MN, Khachikyan N, Greene TL, Becker DM, Nie Q, Zaragoza MV, Grosberg A. A Study of Gene Expression, Structure, and Contractility of iPSC-Derived Cardiac Myocytes from a Family with Heart Disease due to LMNA Mutation. Annals of Biomedical Engineering. PMID 34585335 DOI: 10.1007/s10439-021-02850-8   
2021 Sozeri B, Ulu K, Kaya-Akça U, Haslak F, Pac-Kisaarslan A, Otar-Yener G, Baba O, Altug-Gucenmez O, Sahin N, Bağlan E, Sönmez HE, Cakmak F, Ozturk K, Gezgin-Yıldırım D, Şener S, et al. The clinical course of SARS-CoV-2 infection among children with rheumatic disease under biologic therapy: a retrospective and multicenter study. Rheumatology International. PMID 34570263 DOI: 10.1007/s00296-021-05008-w   
2021 Wu J, Wang L, Xu Y, Zhang Z, Yan X, An Y, Zhang Y, Tang X. Multicentric Carpo-Tarsal Osteolysis Syndrome Mimicking Juvenile Idiopathic Arthritis: Two Case Reports and Review of the Literature. Frontiers in Pediatrics. 9: 745812. PMID 34722426 DOI: 10.3389/fped.2021.745812   
2021 Merdin A, Dal MS, Kizil Çakar M, Bahsi T, Düzkale N, Yildiz J, Bakirtaş M, Başçi S, Darçin T, Şahin D, Tetik A, Uncu Ulu B, İskender D, Yiğenoğlu TN, Altuntaş F. Molecular evaluation of mutations in acute myeloid leukemia patients from Turkey: A single-center study. Medicine. 100: e27458. PMID 34731121 DOI: 10.1097/MD.0000000000027458   
2021 Alexander JH, Binitie OT, Letson GD, Joyce DM. Osteosarcoma: An Evolving Understanding of a Complex Disease. The Journal of the American Academy of Orthopaedic Surgeons. 29: e993-e1004. PMID 34623342 DOI: 10.5435/JAAOS-D-20-00838   
2021 Deb PQ, Weiss RE, Heller DS. Angiosarcoma of the Uterus: A Systematic Review. International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists. PMID 34723849 DOI: 10.1097/PGP.0000000000000833   
2021 Mikolajcik P, Lasabova Z, Loderer D, Grendar M, Kalman M, Kasubova I, Lucansky V, Wiederhold AJ, Marcinek J, Burjanivova T, Kudelova E, Vojtko M, Svec A, Plank L, Janik J, et al. Detection of therapeutically relevant and concomitant rare somatic variants in colorectal cancer. Neoplasma. PMID 34641699 DOI: 10.4149/neo_2021_210616N804   
2021 Moosa S, Chentli F, Altmüller J, Bögershausen N, Nürnberg P, Yigit G, Li Y, Wollnik B. Genomic basis of syndromic short stature in an Algerian patient cohort. American Journal of Medical Genetics. Part A. PMID 34644002 DOI: 10.1002/ajmg.a.62532   
2021 Hu C, Shi Y, Zhao L, Zhou S, Li X. Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients. Frontiers in Pediatrics. 9: 759505. PMID 34790634 DOI: 10.3389/fped.2021.759505   
2021 Moser C, Jurinovic V, Sagebiel-Kohler S, Ksienzyk B, Batcha AMN, Dufour A, Schneider S, Rothenberg-Thurley M, Sauerland CM, Görlich D, Berdel WE, Krug U, Mansmann UR, Hiddemann W, Braess J, et al. A Clinically Applicable Gene Expression based Score predicts Resistance to Induction Treatment in Acute Myeloid Leukemia. Blood Advances. PMID 34535016 DOI: 10.1182/bloodadvances.2021004814   
2021 Lequin P, Ferrari P, Suter C, Milovan M, Besse C, Silva B, Golay P, Bonsack C, Favrod J. The Joint Crisis Plan: A Powerful Tool to Promote Mental Health. Frontiers in Psychiatry. 12: 621436. PMID 33815165 DOI: 10.3389/fpsyt.2021.621436   
2021 Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, et al. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Human Genetics. PMID 34748075 DOI: 10.1007/s00439-021-02383-z   
2021 Machiraju P, Degtiarev V, Patel D, Hazari H, Lowry RB, Bedard T, Sinasac D, Brundler MA, Greenway SC, Khan A. Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children. Journal of Inherited Metabolic Disease. PMID 34580891 DOI: 10.1002/jimd.12441   
2021 Das SS, Chakrapani A, Bhattacharya S, Biswas RN, Safi M. Immunohematological and Clinical Characterization of Complement and Non-Complement Associated Warm Autoimmune Haemolytic Anemia and Risk Factors Predicting their Occurrences. Indian Journal of Hematology & Blood Transfusion : An Official Journal of Indian Society of Hematology and Blood Transfusion. 37: 623-631. PMID 34744345 DOI: 10.1007/s12288-021-01402-3   
2021 Thuriot F, Gravel E, Hodson K, Ganopolsky J, Rakic B, Waters PJ, Gravel S, Lévesque S. Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots. Journal of Clinical Medicine. 10. PMID 34501319 DOI: 10.3390/jcm10173868   
2021 Detsika MG, Giatra C, Kitsiou V, Jahaj E, Athanassiades T, Kouniaki D, Orfanos SE, Dimopoulou I, Pagoni M, Tarassi K, Tsirogianni A, Kotanidou A. Demographic, Clinical and Immunogenetic Profiles of a Greek Cohort of COVID-19 Patients. Life (Basel, Switzerland). 11. PMID 34685388 DOI: 10.3390/life11101017   
2021 Xiong A, Ma N, Wei G, Li C, Li K, Wang B. Genomic alterations in tumor tissue and ctDNA from Chinese pancreatic cancer patients. American Journal of Cancer Research. 11: 4551-4567. PMID 34659905   
2021 Braszak-Cymerman A, Walczak MK, Iwanik K, Kurzawa P, Bryl W. Peripheral T-Cell Lymphoma Possibly Due to Unrecognized Celiac Disease in an Elderly Patient: A Case Report. Medicina (Kaunas, Lithuania). 57. PMID 34064600 DOI: 10.3390/medicina57050471   
2021 Deng J, Zhou L, Zhang J, Chang X, Jiang Y, Wang J, Wu Y. Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter. Frontiers in Genetics. 12: 729777. PMID 34745209 DOI: 10.3389/fgene.2021.729777   
2021 Liu N, Gao M. Mutations Are Associated with Segmental Lymphatic Dysfunction and Initial Lymphatic Aplasia in Patients with Milroy Disease. Genes. 12. PMID 34681005 DOI: 10.3390/genes12101611   
2021 Zhang TW, Wei Y, Pan J, Fang BW, Ye DW, Zhu Y. [Clinical features and prognostic value of mutation in Chinese prostate cancer patients]. Zhonghua Wai Ke Za Zhi [Chinese Journal of Surgery]. 59: 897-901. PMID 34743450 DOI: 10.3760/cma.j.cn112139-20210715-00312   
2021 Issa M, Kiening KL, Unterberg AW, Scherer M, Younsi A, Fedorko S, Oskouian RJ, Chapman JR, Ishak B. Morbidity and Mortality in Patients over 90 Years of Age Following Posterior Stabilization for Acute Traumatic Odontoid Type II Fractures: A Retrospective Study with a Mean Follow-Up of Three Years. Journal of Clinical Medicine. 10. PMID 34501228 DOI: 10.3390/jcm10173780