{"title":"A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review","authors":"Fatemeh Shakarami, Zahra Nouri, Hossein Khanahmad, Mohamadreza Ghazavi, Mohammad Amin Tabatabaiefar","doi":"10.1007/s12041-023-01441-x","DOIUrl":"https://doi.org/10.1007/s12041-023-01441-x","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75035637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-09-08DOI: 10.1007/s12041-023-01444-8
Dhavendra Kumar
{"title":"Indigenous population genome databases for India and South Asia: emerging need for health and social applications","authors":"Dhavendra Kumar","doi":"10.1007/s12041-023-01444-8","DOIUrl":"https://doi.org/10.1007/s12041-023-01444-8","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"236 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89050814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-30DOI: 10.1007/s12041-023-01439-5
P. Ambulkar, T. Liehr, M. Jain, J. Waghmare, N. Gangane, P. Narang, A. Pal
{"title":"Molecular characterization of de novo ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies","authors":"P. Ambulkar, T. Liehr, M. Jain, J. Waghmare, N. Gangane, P. Narang, A. Pal","doi":"10.1007/s12041-023-01439-5","DOIUrl":"https://doi.org/10.1007/s12041-023-01439-5","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75452783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-29DOI: 10.1007/s12041-023-01438-6
M. Rophina, T. L. Kek, S. Sivasubbu, V. Scaria, M. Z. Salleh
{"title":"In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia with major global populations","authors":"M. Rophina, T. L. Kek, S. Sivasubbu, V. Scaria, M. Z. Salleh","doi":"10.1007/s12041-023-01438-6","DOIUrl":"https://doi.org/10.1007/s12041-023-01438-6","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"47 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86394338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-29DOI: 10.1007/s12041-023-01440-y
Seyed Milad Vahedi, Moslem Momen, Seyedeh Fatemeh Mousavi, M. H. Banabazi, Mohammad Saeed Hasanvandi, M. Bhatta, M. Amiri Roudbar, Siavash Salek Ardestani
{"title":"Population genetic analysis and scans for adaptation and contemporary selection footprints provide genomic insight into aus, indica and japonica rice cultivars diversification","authors":"Seyed Milad Vahedi, Moslem Momen, Seyedeh Fatemeh Mousavi, M. H. Banabazi, Mohammad Saeed Hasanvandi, M. Bhatta, M. Amiri Roudbar, Siavash Salek Ardestani","doi":"10.1007/s12041-023-01440-y","DOIUrl":"https://doi.org/10.1007/s12041-023-01440-y","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"352 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77788231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-07DOI: 10.1007/s12041-023-01437-7
Upasana Bhattacharyya, Preeti Deswal, S. Polipalli, D. Sharma, M. Kaur, Madhulika Neerja Ramesh A. K. V. K. Shevendru R. K. R. S. J. Kabra Gupta Agarwal Deorari Paul Roy Sanjeev Tomar, M. Kabra, N. Gupta, R. Agarwal, A. Deorari, V. Paul, Shevendru Roy, R. Sanjeev, R. Tomar, J. S. Bhasin, A. Tyagi, V. Sharma, A. Gulati, R. Yadav, M. Faridi, P. Batra, P. Dewan, Veena Devgan, Alka Mathur, A. Bhatnagar, Sunita Bhatia, Ajay Kumar, S. Nangia, A. Saili, A. Seth, D. Singla, S. Arora, S. Mehndiratta, Ashish Jain, G. Pradhan, Sangeeta Gupta, S. Ramji, M. Darshan, S. Polipalli, Somesh Kumar, B. Varughese, A. Lomash, Poonam Sidana, Sonia Mitta, A. Chitkara, A. Maria, H. Chellani, K. C. Aggarwa, Shobhna Gupta, Arya Sugandha, A. Gambhir, Surinder Bisht, A. Aggarwal, P. Kohli, Indermeet Singh, S. Kapoor, B. Thelma
{"title":"Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study","authors":"Upasana Bhattacharyya, Preeti Deswal, S. Polipalli, D. Sharma, M. Kaur, Madhulika Neerja Ramesh A. K. V. K. Shevendru R. K. R. S. J. Kabra Gupta Agarwal Deorari Paul Roy Sanjeev Tomar, M. Kabra, N. Gupta, R. Agarwal, A. Deorari, V. Paul, Shevendru Roy, R. Sanjeev, R. Tomar, J. S. Bhasin, A. Tyagi, V. Sharma, A. Gulati, R. Yadav, M. Faridi, P. Batra, P. Dewan, Veena Devgan, Alka Mathur, A. Bhatnagar, Sunita Bhatia, Ajay Kumar, S. Nangia, A. Saili, A. Seth, D. Singla, S. Arora, S. Mehndiratta, Ashish Jain, G. Pradhan, Sangeeta Gupta, S. Ramji, M. Darshan, S. Polipalli, Somesh Kumar, B. Varughese, A. Lomash, Poonam Sidana, Sonia Mitta, A. Chitkara, A. Maria, H. Chellani, K. C. Aggarwa, Shobhna Gupta, Arya Sugandha, A. Gambhir, Surinder Bisht, A. Aggarwal, P. Kohli, Indermeet Singh, S. Kapoor, B. Thelma","doi":"10.1007/s12041-023-01437-7","DOIUrl":"https://doi.org/10.1007/s12041-023-01437-7","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"286 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75791749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-07DOI: 10.1007/s12041-023-01436-8
P. Nourmohammadi, Mostafa Asadollahi, Arezou Karamzade, Y. Eshaghkhani, Meisam Babaei, Zahra Golchehre, Seyedeh Roksana Taheri, Sepideh Hasani, Mahdieh Taghizadeh, M. Keramatipour
{"title":"A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature","authors":"P. Nourmohammadi, Mostafa Asadollahi, Arezou Karamzade, Y. Eshaghkhani, Meisam Babaei, Zahra Golchehre, Seyedeh Roksana Taheri, Sepideh Hasani, Mahdieh Taghizadeh, M. Keramatipour","doi":"10.1007/s12041-023-01436-8","DOIUrl":"https://doi.org/10.1007/s12041-023-01436-8","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"13 5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83014095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-25DOI: 10.1007/s12041-023-01435-9
Zhumei Ren, Hongli He, Yang Zhang, Yujie Xu, X. Su
{"title":"Comparative genetic diversity and structure of Rhus gall aphid Schlechtendalia chinensis and its host plant Rhus chinensis","authors":"Zhumei Ren, Hongli He, Yang Zhang, Yujie Xu, X. Su","doi":"10.1007/s12041-023-01435-9","DOIUrl":"https://doi.org/10.1007/s12041-023-01435-9","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81942080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-15DOI: 10.1007/s12041-023-01433-x
J. Awwad, M. Souaid, T. Yammine, A. Chebly, N. Salem, Rita Esber, C. Farra
{"title":"A homozygous missense variant in PTPN2 with early-onset Crohn’s disease, growth failure and dysmorphic features in an infant: a case report","authors":"J. Awwad, M. Souaid, T. Yammine, A. Chebly, N. Salem, Rita Esber, C. Farra","doi":"10.1007/s12041-023-01433-x","DOIUrl":"https://doi.org/10.1007/s12041-023-01433-x","url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84054209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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