Authors: Hu, Yuepeng1 (AUTHOR), Chen, Jian-Min2 (AUTHOR), Zuo, Han3 (AUTHOR), Pu, Na1 (AUTHOR), Zhang, Guofu1 (AUTHOR), Duan, Yichen1 (AUTHOR), Li, Gang1 (AUTHOR), Tong, Zhihui1 (AUTHOR), Li, Weiqin1 (AUTHOR), Li, Baiqiang1,4 (AUTHOR) li_baiqiang@aliyun.com, Yang, Qi1,5 (AUTHOR) yangqi_nj@163.com
Superior Title: Lipids in Health & Disease. 4/1/2024, Vol. 23 Issue 1, p1-10. 10p.
Subject Terms: *LIPOPROTEIN lipase, *MEDICAL genetics, *GENETIC testing, *MEDICAL genomics, *MISSENSE mutation, *RECESSIVE genes, *ALLELES
Authors: Moin, Abu Tayab (AUTHOR), Rani, Nurul Amin (AUTHOR), Ullah, Md. Asad (AUTHOR), Patil, Rajesh B. (AUTHOR), Robin, Tanjin Barketullah (AUTHOR), Nawal, Nafisa (AUTHOR), Zubair, Talha (AUTHOR), Mahamud, Syed Iftakhar (AUTHOR), Sakib, Mohammad Najmul (AUTHOR), Islam, Nafisa Nawal (AUTHOR), Khaleque, Md. Abdul (AUTHOR), Absar, Nurul (AUTHOR), Shohael, Abdullah Mohammad (AUTHOR)
Superior Title: PLoS ONE. 12/8/2023, Vol. 18 Issue 12, p1-4. 4p.
Subject Terms: *HTLV, *MEDICAL genetics, *MOLECULAR dynamics, *VACCINES, *MEDICAL informatics, *DIGITAL image correlation
Geographic Terms: BANGLADESH
Authors: Ai, Qi1 (AUTHOR), Jiang, Lihua1 (AUTHOR), Chen, Yun1 (AUTHOR), Yao, Xiuyun1 (AUTHOR), Yin, Jing2 (AUTHOR), Chen, Sen1 (AUTHOR) chensenblood@126.com
Superior Title: Hematology. Dec2023, Vol. 28 Issue 1, p1-6. 6p.
Subject Terms: *BONE marrow, *MEDICAL genetics, *GENETIC mutation, *NONSENSE mutation, *BIRTHPARENTS
Authors: French, Emilie Logan1 jfontes@kumc.edu, Kadera, Leena1, Young, Erin E.2, Fontes, Joseph D.3
Superior Title: Medical Education Online. Dec2023, Vol. 28 Issue 1, p1-6. 6p.
Subject Terms: *MEDICAL genomics, *MEDICAL genetics, *CLINICAL medical education, *MEDICAL students, *PHYSICIANS
Authors: Renaux, Alexandre1,2,3 (AUTHOR) Alexandre.Renaux@ulb.be, Terwagne, Chloé1,2 (AUTHOR), Cochez, Michael4,5 (AUTHOR), Tiddi, Ilaria4 (AUTHOR), Nowé, Ann1,3 (AUTHOR), Lenaerts, Tom1,2,3 (AUTHOR) tom.lenaerts@ulb.be
Superior Title: BMC Bioinformatics. 8/29/2023, Vol. 24 Issue 1, p1-25. 25p.
Subject Terms: *KNOWLEDGE graphs, *MEDICAL genetics, *MACHINE learning, *GENETIC variation, *GENES
Authors: Ferreira, Cristina Santos1 (AUTHOR), Francisco Junior, Ronaldo da Silva1 (AUTHOR), Gerber, Alexandra Lehmkuhl1 (AUTHOR), Guimarães, Ana Paula de Campos1 (AUTHOR), de Carvalho, Flavia Amendola Anisio2 (AUTHOR), dos Reis, Bárbara Carvalho Santos2 (AUTHOR), Pinto-Mariz, Fernanda3 (AUTHOR), de Souza, Monica Soares4 (AUTHOR), de Vasconcelos, Zilton Farias Meira5 (AUTHOR), Goudouris, Ekaterini Simões3 (AUTHOR), Vasconcelos, Ana Tereza Ribeiro1 (AUTHOR) atrv@lncc.br
Superior Title: BMC Genomic Data. 8/17/2023, Vol. 24 Issue 1, p1-14. 14p.
Subject Terms: *GENETIC testing, *MEDICAL genetics, *GENETIC variation, *MOLECULAR pathology, *PRIMARY immunodeficiency diseases
Geographic Terms: BRAZIL, RIO de Janeiro (Brazil)
Authors: Boeykens, Fréderique1 (AUTHOR) frederique.boeykens@ugent.be, Bhatti, Sofie F. M.2 (AUTHOR), Peelman, Luc1 (AUTHOR), Broeckx, Bart J. G.1 (AUTHOR) bart.broeckx@ugent.be
Superior Title: BMC Bioinformatics. 8/1/2023, Vol. 24 Issue 1, p1-15. 15p.
Subject Terms: *MEDICAL genetics, *ANIMAL genetics, *GENETIC variation, *NUCLEOTIDE sequencing, *QUALITY control
Authors: Kafkas, Șenay1 (AUTHOR), Abdelhakim, Marwa1 (AUTHOR), Uludag, Mahmut1 (AUTHOR), Althagafi, Azza1,2,3 (AUTHOR), Alghamdi, Malak4 (AUTHOR), Hoehndorf, Robert1,2 (AUTHOR) robert.hoehndorf@kaust.edu.sa
Superior Title: BMC Bioinformatics. 7/21/2023, Vol. 24 Issue 1, p1-17. 17p.
Subject Terms: *NUCLEOTIDE sequencing, *MEDICAL genetics, *HUMAN phenotype, *SYMPTOMS, *GENOMES
Authors: Dallapiccola, Bruno1 (AUTHOR) bruno.dallapiccola@opbg.net, Mingarelli, Rita1 (AUTHOR) rita.mingarelli@opbg.net
Superior Title: Audiology Research. Dec2023, Vol. 13 Issue 6, p939-941. 3p.
Subject Terms: *MEDICAL genetics, *SURGICAL pathology, *PHYSICIANS, *MEMORY, *MENTORS
Authors: Maamouri, Rym1,2 (AUTHOR), Hizem, Syrine2,3 (AUTHOR) syrine.hizem@fmt.utm.tn, Kammoun, Ines2,4 (AUTHOR), Elaribi, Yasmina2,3 (AUTHOR), Rejeb, Imen3 (AUTHOR), Sebai, Molka2,3 (AUTHOR), Jilani, Houweyda2,3 (AUTHOR), Rouzier, Cécile5 (AUTHOR), Cheour, Monia1,2 (AUTHOR), Paquis-Flucklinger, Véronique5 (AUTHOR), Ben Jemaa, Lamia2,3 (AUTHOR)
Superior Title: Ophthalmic Genetics. Jun2023, Vol. 44 Issue 3, p304-312. 9p.
Subject Terms: *DIABETIC retinopathy, *MEDICAL genetics, *MEDICAL genomics, *DIABETES insipidus, *MISSENSE mutation, *GENETIC counseling
Authors: Liu, Zhenhui1 (AUTHOR), Guo, Ju2 (AUTHOR), Pan, Meng2 (AUTHOR), Xie, Kunpeng2 (AUTHOR), Du, Liping1,2 (AUTHOR), Jin, Xuemin1,2 (AUTHOR) jinxuemin@zzu.edu.cn, Lei, Bo1 (AUTHOR) bolei99@126.com
Superior Title: Ophthalmic Genetics. Jun2023, Vol. 44 Issue 3, p262-270. 9p.
Subject Terms: *MISSENSE mutation, *MEDICAL genetics, *NONSENSE mutation, *MEDICAL genomics, *GENETIC mutation, *RETINAL diseases
Geographic Terms: CHINA
Authors: Versbraegen, Nassim1,2 (AUTHOR) nversbra@ulb.ac.be, Gravel, Barbara1,2,3 (AUTHOR), Nachtegael, Charlotte1,2 (AUTHOR), Renaux, Alexandre1,2,3 (AUTHOR), Verkinderen, Emma1,2 (AUTHOR), Nowé, Ann2,3 (AUTHOR), Lenaerts, Tom1,2,3 (AUTHOR), Papadimitriou, Sofia1,2,3 (AUTHOR)
Superior Title: BMC Bioinformatics. 5/1/2023, Vol. 24 Issue 1, p1-19. 19p.
Subject Terms: *MEDICAL genetics, *RANDOM forest algorithms, *SUBSET selection, *INDEPENDENT sets, *MISSING data (Statistics), *FORECASTING, *DATABASES
Authors: Huang, Xiaoyu1 (AUTHOR), Li, Huiping1 (AUTHOR), Yang, Shangying2 (AUTHOR), Ma, Meijiao3 (AUTHOR), Lian, Yuanyuan3 (AUTHOR), Wu, Xueli3 (AUTHOR), Qi, Xiaolong1 (AUTHOR), Wang, Xuhui1 (AUTHOR), Rong, Weining1 (AUTHOR) rongweining426@126.com, Sheng, Xunlun3 (AUTHOR) shengxunlun@163.com
Superior Title: BMC Medical Genomics. 5/24/2024, Vol. 17 Issue 1, p1-11. 11p.
Subject Terms: *MEDICAL genetics, *GENE expression, *GENETIC testing, *ALOPECIA areata, *MYOPIA, *PATENT foramen ovale
Authors: DESHPANDE, TANMAY ULHAS1, CHHEDA, PRATIKSHA RAKESH2 pratiksha.chheda@rfhospital.org, DAMA, TAVISHA JAYANT3, SHIVAPRAKASH, KRISHNANAIK4, BHAMRE, BIPEENCHANDRA5
Superior Title: Journal of Clinical & Diagnostic Research. May2024, Vol. 18 Issue 5, p1-4. 4p.
Subject Terms: *FAMILIAL hypercholesterolemia, *MEDICAL genetics, *APOLIPOPROTEIN E, *LDL cholesterol, *LIPOPROTEIN receptors, *GENETIC testing
Authors: Besterman, Aaron D.1 (AUTHOR) abesterman@health.ucsd.edu
Superior Title: Schizophrenia Research. May2024, Vol. 267, p462-469. 8p.
Subject Terms: *SCHIZOPHRENIA, *MEDICAL genetics, *COGNITION disorders, *GENETIC counseling, *GENETIC variation
Authors: Poot, Martin1 (AUTHOR)
Superior Title: Cytogenetic & Genome Research. 2024, Vol. 163 Issue 5/6, p231-235. 5p.
Subject Terms: *DOUBLE-strand DNA breaks, *MEDICAL genetics, *WERNER'S syndrome, *DNA topoisomerase I, *DNA repair, *SYNDROMES
Authors: Lemire, Gabrielle1,2,3,4,5 (AUTHOR) glemiret@broadinstitute.org, Sanchis-Juan, Alba1,2,4,5 (AUTHOR), Russell, Kathryn1,2 (AUTHOR), Baxter, Samantha1,2 (AUTHOR), Chao, Katherine R.1,2,5 (AUTHOR), Singer-Berk, Moriel1,2,5 (AUTHOR), Groopman, Emily1,2,3 (AUTHOR), Wong, Isaac1,2,5 (AUTHOR), England, Eleina1,2,3 (AUTHOR), Goodrich, Julia1,2,5 (AUTHOR), Pais, Lynn1,2,3,5 (AUTHOR), Austin-Tse, Christina1,2,5 (AUTHOR), DiTroia, Stephanie1,2,3,5 (AUTHOR), O'Heir, Emily1,2,3,5 (AUTHOR), Ganesh, Vijay S.1,2,3,4,5,6 (AUTHOR), Wojcik, Monica H.1,2,3,4,7 (AUTHOR), Evangelista, Emily1,2 (AUTHOR), Snow, Hana1,2 (AUTHOR), Osei-Owusu, Ikeoluwa1,2,5 (AUTHOR), Fu, Jack1,2,4,5 (AUTHOR)
Superior Title: American Journal of Human Genetics. May2024, Vol. 111 Issue 5, p863-876. 14p.
Subject Terms: *NUCLEOTIDE sequencing, *MEDICAL genetics, *GENETIC disorders, *DNA copy number variations, *RARE diseases, *MEDICAL genomics, *GENETIC testing
Authors: Zhuang, Jianfu1 (AUTHOR), Zhang, Rongcai2 (AUTHOR), Zhou, Biting3 (AUTHOR), Cao, Zongfu4 (AUTHOR), Zhou, Jie5 (AUTHOR), Chen, Xiaole5 (AUTHOR), Zhang, Nanwen5 (AUTHOR), Zhu, Yihua3 (AUTHOR) zhuyihua889@126.com, Yang, Juhua5 (AUTHOR) julian_yang@fjmu.edu.cn
Superior Title: Ophthalmic Genetics. Apr2024, Vol. 45 Issue 2, p147-152. 6p.
Subject Terms: *RETINITIS pigmentosa, *MEDICAL genetics, *GENETIC mutation, *FAMILY history (Sociology), *MEDICAL schools
Authors: Ababio, G. K.1 (AUTHOR) gkababio@ug.edu.gh, Ekem, I.2 (AUTHOR), Acquaye, J.3 (AUTHOR), Oppong, S. Y.1,4 (AUTHOR), Amoah, A. G. B.5 (AUTHOR), Brandful, J.6 (AUTHOR), Quaye, I. K.7,8 (AUTHOR) isaac.quaye@regent.edu.gh
Superior Title: Biochemical Genetics. Apr2024, Vol. 62 Issue 2, p666-674. 9p.
Subject Terms: *MEDICAL genetics, *SICKLE cell anemia, *MICROSATELLITE repeats, *SINGLE nucleotide polymorphisms, *LEUCOCYTES, *GLOBIN genes, *BLOOD cell count
Authors: Britten-Jones, Alexis Ceecee1, Ayse, Sena2
Superior Title: Optometry Today. Apr/May2024, Vol. 64 Issue 2, p60-64. 5p.
Subject Terms: *USHER'S syndrome, *MEDICAL genetics, *RETINITIS pigmentosa, *VESTIBULAR apparatus diseases, *TASTE disorders, *HALLUCINATIONS, *GENETICS