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- [21] Detection of pathogenic variants in Alzheimer's disease related genes in Bulgarian patients by pooled whole-exome sequencingBIOTECHNOLOGY & BIOTECHNOLOGICAL EQUIPMENT, 2023, 37 (01) : 74 - 78Karachanak-Yankova, Sena论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria Sofia Univ St Kliment Ohridski, Fac Biol, Dept Genet, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, BulgariaSerbezov, Dimitar论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, BulgariaMihaylova, Marta论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, BulgariaNikolova, Dragomira论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, BulgariaBalabanski, Lubomir论文数: 0 引用数: 0 h-index: 0机构: GMDL Cell Genet, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, BulgariaDamyanova, Vera论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, BulgariaAntonova, Olga论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, BulgariaStaneva, Rada论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria论文数: 引用数: h-index:机构:Spasova, Victoria论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Belejanska, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Alexandrovska, Dept Neurol, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, BulgariaPetrova, Mariya论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Alexandrovska, Dept Neurol, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, BulgariaMehrabian, Shima论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Alexandrovska, Dept Neurol, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, BulgariaTraykov, Latchezar论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Alexandrovska, Dept Neurol, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria论文数: 引用数: h-index:机构:Toncheva, Draga论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria Bulgarian Acad Sci, Sofia, Bulgaria Med Univ Sofia, Fac Med, Dept Med Genet, Sofia, Bulgaria
- [22] Diagnostic rate of germline pathogenic variants in pancreatic ductal adenocarcinoma patients using whole genome sequencingFRONTIERS IN GENETICS, 2023, 14Chung, An-Ko论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ, Grad Inst Med Genom & Prote, Taipei, Taiwan Natl Taiwan Univ, Dept Internal Med, Coll Med, Taipei, Taiwan Natl Taiwan Univ, Grad Inst Med Genom & Prote, Taipei, Taiwan论文数: 引用数: h-index:机构:Yeh, Chun-Chieh论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch Med, Taichung, Taiwan China Med Univ Hosp, Dept Surg, Taichung, Taiwan Natl Taiwan Univ, Grad Inst Med Genom & Prote, Taipei, TaiwanYang, Chi-Ying论文数: 0 引用数: 0 h-index: 0机构: China Med Univ Hosp, Digest Med Ctr, Dept Internal Med, Taichung, Taiwan Natl Taiwan Univ, Grad Inst Med Genom & Prote, Taipei, TaiwanWu, Chang-Jiun论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, MD Anderson Canc Ctr, Dept Genom Med, Houston, TX USA Natl Taiwan Univ, Grad Inst Med Genom & Prote, Taipei, TaiwanChen, Pei-Lung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ, Grad Inst Med Genom & Prote, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ, Grad Inst Med Genom & Prote, Taipei, TaiwanLin, Jaw-Town论文数: 0 引用数: 0 h-index: 0机构: E Da Hosp, Dept Internal Med, Div Gastroenterol & Hepatol, Kaohsiung, Taiwan Natl Taiwan Univ, Grad Inst Med Genom & Prote, Taipei, Taiwan
- [23] Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variantsEXPERIMENTAL AND MOLECULAR MEDICINE, 2025, : 775 - 787Kim, Jung Ah论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South Korea Won Sang Lee Inst Hearing Loss, Seoul, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South KoreaJang, Seung Hyun论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South Korea Won Sang Lee Inst Hearing Loss, Seoul, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South KoreaJoo, Sun Yung论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South Korea Won Sang Lee Inst Hearing Loss, Seoul, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South KoreaKim, Se Jin论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South Korea Won Sang Lee Inst Hearing Loss, Seoul, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South KoreaChoi, Jae Young论文数: 0 引用数: 0 h-index: 0机构: Won Sang Lee Inst Hearing Loss, Seoul, South Korea Yonsei Univ, Coll Med, Dept Otorhinolaryngol, Seoul, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South Korea论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [24] Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant ExonizationINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020, 61 (10)Di Scipio, Matteo论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaTavares, Erika论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaDeshmukh, Shriya论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaAudo, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, CNRS, INSERM, Inst Vis, Paris, France INSERM, DGOS CIC1423, CHNO Quinze Vingts, Paris, France UCL, Inst Ophthalmol, London, England Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaGreen-Sanderson, Kit论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaZubak, Yuliya论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaZine-Eddine, Faycal论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaPearson, Alexander论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaVig, Anjali论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaTang, Chen Yu论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaMollica, Antonio论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaKaras, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaTumber, Anupreet论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaYu, Caberry W.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaBillingsley, Gail论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaWilson, Michael D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada论文数: 引用数: h-index:机构:Heon, Elise论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaVincent, Ajoy论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada
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