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Cited by CrossRef (32)

  1. Diane Xavier de Avila, Evandro Tinoco Mesquita. The Era of Personalized Medicine in Cardiomyopathies. 2023;3
    https://doi.org/10.36660/abchf.20230039
  2. Qiang Li, Shuping Sun, Bin Zuo, Chengyu Lian, Wenxue Tang, Hongen Xu, Wei Lu. Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene. American J of Med Genetics Pt A 2025;197
    https://doi.org/10.1002/ajmg.a.63877
  3. Sunghwan Shin, Mi Ra Ryu, Won Kyung Kwon, Suhee Kim, Ja-Hyun Jang, Jong-Won Kim. Psychological effects and risk perception after genetic counseling. J Genet Med 2021;18:38
    https://doi.org/10.5734/JGM.2021.18.1.38
  4. Henri Setiawan, Yudisa Diaz Lutfi Sandi, Esti Andarini, Rudi Kurniawan, Selvia David Richard, Heri Ariyanto. The effect of genetic counseling on depression, anxiety, and knowledge level among diabetes mellitus patients. Kontakt 2021;23:330
    https://doi.org/10.32725/kont.2021.035
  5. Junwen Wang, Yingwei Wang, Yi Jiang, Xueqing Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Wenmin Sun, Panfeng Wang, Qingjiong Zhang. Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867. Invest. Ophthalmol. Vis. Sci. 2022;63:19
    https://doi.org/10.1167/iovs.63.5.19
  6. Kozo Yoneda, Akiharu Kubo, Toshifumi Nomura, Akemi Ishida‐Yamamoto, Yasushi Suga, Masashi Akiyama, Nobuo Kanazawa, Takashi Hashimoto. Japanese guidelines for the management of palmoplantar keratoderma. The Journal of Dermatology 2021;48
    https://doi.org/10.1111/1346-8138.15850
  7. Katarzyna Wadowska, Iwona Bil-Lula, Łukasz Trembecki, Mariola Śliwińska-Mossoń. Genetic Markers in Lung Cancer Diagnosis: A Review. IJMS 2020;21:4569
    https://doi.org/10.3390/ijms21134569
  8. Erich Schaflinger, Dietmar Enko. Die Bedeutung der Hochdurchsatz-Sequenzierung in der medizinisch genetischen Diagnostik und Beratung. Dtsch Med Wochenschr 2022;147:1336
    https://doi.org/10.1055/a-1924-6646
  9. Matas Nasvytis, Julija Čiauškaitė, Giedrė Jurkevičienė. GNB1 Encephalopathy: Clinical Case Report and Literature Review. Medicina 2024;60:589
    https://doi.org/10.3390/medicina60040589
  10. Andreia Brandão, Paula Paulo, Manuel R. Teixeira. Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications. IJMS 2020;21:5036
    https://doi.org/10.3390/ijms21145036
  11. Sophie Van Hoyweghen, Kathleen BM Claes, Robin de Putter, Claire Wakefield, Marieke Van Schoors, Sabine Hellemans, Lesley Verhofstadt. The psychological impact of genetic testing in childhood cancer: A systematic review. Psycho-Oncology 2024;33
    https://doi.org/10.1002/pon.6279
  12. Diana Cristina Pérez-Ibave, María Lourdes Garza-Rodríguez, María Fernanda Noriega-Iriondo, Sonia María Flores-Moreno, Manuel Ismael González-Geroniz, Absalon Espinoza-Velazco, Ana Lilia Castruita-Ávila, Fernando Alcorta-Núñez, Omar Alejandro Zayas-Villanueva, Juan Francisco González-Guerrero, Adelina Alcorta-Garza, Oscar Vidal-Gutiérrez, Carlos Horacio Burciaga-Flores. Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico. Genes 2023;14:341
    https://doi.org/10.3390/genes14020341
  13. Na-Kyoung Kim, Jong-Won Kim. A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting. Ann Lab Med 2022;42:296
    https://doi.org/10.3343/alm.2022.42.2.296
  14. Xiufang Zhi, Qi Ai, Wenchao Sheng, Yuping Yu, Jianbo Shu, Changshun Yu, Xiaoli Yu, Dong Li, Chunquan Cai. Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease. Front. Genet. 2022;13
    https://doi.org/10.3389/fgene.2022.852764
  15. Sophie Van Hoyweghen, Kathleen B. M. Claes, Robin de Putter, Claire E. Wakefield, Marie Van Poucke, Marieke Van Schoors, Sabine Hellemans, Lesley Verhofstadt. Family-Level Impact of Germline Genetic Testing in Childhood Cancer: A Multi Family Member Interview Analysis. Cancers 2025;17:517
    https://doi.org/10.3390/cancers17030517
  16. Guillem Abad-Carratalà, Marc Blanco-Silvestre, Anna Sánchez-Llopis, Rosa Monsonís-Usó, Conrado Martínez-Cadenas, Pedro Martínez-Meneu, Bárbara Amaya-Barroso, Elia Muñoz-Vicente, Carmen Garau-Perelló, Paula Ponce-Blasco, Laura Barrios-Arnau, Manuel Bosquet-Sanz, Miguel Rodrigo-Aliaga. Two Clinical Cases of Li-Fraumeni Syndrome and Prostate Cancer: Genetic Counseling and Clinical-Surgical Management. Clinical Genitourinary Cancer 2022;20:581
    https://doi.org/10.1016/j.clgc.2022.06.002
  17. John A. Lynch, Michaela J. Idleburg, Melinda Butsch Kovacic, Kristin E. Childers-Buschle, Kevin R. Dufendach, Ellen A. Lipstein, Michelle L. McGowan, Melanie F. Myers, Cynthia A. Prows. Developing video education materials for the return of genomic test results to parents and adolescents. PEC Innovation 2022;1:100051
    https://doi.org/10.1016/j.pecinn.2022.100051
  18. Gregorio Serra, Luigi Memo, Alessandra Coscia, Mario Giuffré, Ambra Iuculano, Mariano Lanna, Diletta Valentini, Anna Contardi, Sauro Filippeschi, Tiziana Frusca, Fabio Mosca, Luca A. Ramenghi, Corrado Romano, Annalisa Scopinaro, Alberto Villani, Giuseppe Zampino, Giovanni Corsello. Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations. Ital J Pediatr 2021;47
    https://doi.org/10.1186/s13052-021-01044-1
  19. Brenno Pastò, Giulia Buzzatti, Clorinda Schettino, Umberto Malapelle, Alice Bergamini, Carmine De Angelis, Lucia Musacchio, Maria Vittoria Dieci, Elisabetta Kuhn, Matteo Lambertini, Anna Passarelli, Angela Toss, Alberto Farolfi, Rossana Roncato, Ettore Capoluongo, Riccardo Vida, Sandro Pignata, Maurizio Callari, Gustavo Baldassarre, Michele Bartoletti, Lorenzo Gerratana, Fabio Puglisi. Unlocking the potential of Molecular Tumor Boards: from cutting-edge data interpretation to innovative clinical pathways. Critical Reviews in Oncology/Hematology 2024;199:104379
    https://doi.org/10.1016/j.critrevonc.2024.104379
  20. Oana-Maria Isailă. Clinical Ethics At the Crossroads of Genetic and Reproductive Technologies. 2024.
    https://doi.org/10.1016/B978-0-443-19045-2.00019-2
  21. Alexandre Mercier-Guery, Roland Chapurlat. Reference Module in Biomedical Sciences. 2024.
    https://doi.org/10.1016/B978-0-443-13825-6.00081-9
  22. Agnese Kocere, Robert L. Lalonde, Christian Mosimann, Alexa Burger. Lateral thinking in syndromic congenital cardiovascular disease. 2023;16
    https://doi.org/10.1242/dmm.049735
  23. Antonie D. Kline, Virginia L. Corson. Genomics in the Clinic. 2023.
    https://doi.org/10.1016/B978-0-12-816478-5.00003-0
  24. Soo Hyun Seo, Namhee Kim, Jongha Yoo, Do‐Hoon Kim, Jieun Kim, Jungwon Huh, Sun‐Young Kong, Eul Joo Seo. Issues, challenges, and future perspectives of genetic counseling in Republic of Korea: Perspectives of laboratory physicians based on a 2022 survey. Journal of Genetic Counseling 2024;33:1351
    https://doi.org/10.1002/jgc4.1863
  25. Eleonora Cilli, Federica Guerra, Jessica Ranieri, Francesco Brancati, Dina Di Giacomo. Patient perspective in perceived comparative genetic mutation risk: An exploratory review. Clinical Genetics 2024;105:355
    https://doi.org/10.1111/cge.14489
  26. Huixi Ma, Yun Wang, Yang Jia, Linjun Xie, Lini Liu, Dingyi Zhang, Xinyue Ma, Yingkun Guo, Rong Xu. Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024. Front. Med. 2025;11
    https://doi.org/10.3389/fmed.2024.1507313
  27. Ankita Pati, Dattatreya Kar, Jyoti Ranjan Parida, Ananya Kuanar. Advancements of next generation sequencing in the field of Rheumatoid Arthritis. Egyptian Journal of Basic and Applied Sciences 2023;10:135
    https://doi.org/10.1080/2314808X.2022.2156683
  28. Nıgar SHIRINOVA, Fatma Zehra YALÇIN, Sevcan TUĞ BOZDOĞAN. Current Approach to Genetic Causes of Female Infertility and Genetic Counseling. 2022;24:56
    https://doi.org/10.18678/dtfd.1183278
  29. Salah-Eddine Laasli, Najwa Seddiqi Kallali, Ikram Legrifi, Jihane Kenfaoui, Khadija Goura, Fouad Mokrini, Mustapha Barakate, Abdelfattah A. Dababat, Rachid Lahlali. Molecular and Biotechnological Tools for Plant Disease Management. 2022.
    https://doi.org/10.1007/978-981-97-7510-1_3
  30. Namhee Kim, Sun-Young Kong, Jongha Yoo, Do-Hoon Kim, Soo Hyun Seo, Jieun Kim. Current Issues, Challenges, and Future Perspectives of Genetic Counseling in Korea. Ann Lab Med 2022;42:314
    https://doi.org/10.3343/alm.2022.42.3.314
  31. Xuan-Thanh-An Nguyen, Lude Moekotte, Astrid S. Plomp, Arthur A. Bergen, Maria M. van Genderen, Camiel J. F. Boon. Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies. IJMS 2023;24:7481
    https://doi.org/10.3390/ijms24087481
  32. Om Saswat Sahoo, Hiya Aidasani, Arnab Nayek, Smita Tripathi, Joyeeta Talukdar, Anamta Gul, Deepak Kumar, Ruby Dhar, Subhradip Karmakar. Role of next‐generation sequencing in revolutionizing healthcare for cancer management. MedComm – Future Medicine 2024;3
    https://doi.org/10.1002/mef2.70001
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