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Molecular Genetics & Genomic Medicine

IF1.6
Papers55
Citations
Journal Papers 55
Publication Date
Prenatal Exome Diagnostic Yield, Syndromic Landscape and Secondary Findings
delete2026-04-07
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deleteAvello, Kayleigh; Gessay, Shawn; Nelson, Megan; Schultz, Connie; Jacob, Natalie
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Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes
delete2026-03-31
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deleteSedlackova, Lucie; Brozkova, Dana Safka; Havlovicova, Marketa; Lassuthova, Petra
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Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family
delete2026-03-30
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deleteMaltese, Paolo Enrico; Bonetti, Gabriele; Manara, Elena; Tanzi, Benedetta; Bernini, Andrea; Berryman, Mark A.; Tanda, Soichi; Nielsen, Corinne; Casagrande, Silvia; Ferrero, Amanda; Stano, Salvatore; Zuccarino, Riccardo; Barp, Andrea; Chiurazzi, Pietro; Bertelli, Matteo
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PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review
delete2026-03-26
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deleteSubbotin, Dmitrii; Akimova, Daria; Dadali, Elena; Mikhalchuk, Kristina; Borovikov, Artem; Kadyshev, Vitaly; Skoblov, Mikhail; Murtazina, Aysylu
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Analysis of the Phenotype and Gene Mutations of Two Families With Combined Mutations of Anticoagulant Protein Genes
delete2026-03-26
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deleteGuo, Yueli; Shan, Tingting; Zheng, Wenjieying; Zhao, Chun; Kong, Wanzhong; Zou, Xiaojing
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Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience
delete2026-03-23
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deleteLin, Ying; Lu, Qun; Wu, Yun; Li, Hang; Feng, Haoyang; Luo, Chunyu; Hu, Ping; Liang, Dong; Xu, Zhengfeng
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Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review
delete2026-03-22
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deleteSalmaninejad, Arash; Seyedtaghia, Mohammad Reza; Bereshneh, Ali Hosseini; Azizi, Nasrin; Bayat, Reza; Esnaashari, Somaye; Aminzadeh, Vahid; Koohmanaee, Shahin; Savad, Shahram; Mojarrad, Majid; Dalili, Setila
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Single Nucleotide Polymorphism Microarray Analysis Unveils Copy-Number Abnormalities and Genetic Heterogeneity in Malaysian Childhood B-Cell Precursor Acute Lymphoblastic Leukemia
delete2026-03-02
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deleteDali, Nor Soleha Mohd; Aziz, Nursaedah Abdullah; Zulkifle, Muhamad Farid; Zamri, Durar Aqilah; Kamaluddin, Nor Rizan; Yeoh, Seoh-Leng; Ho, Betty Lee-Sue; Din, Nazzlin Dizana; Ab Ghani, Azly Sumanty; Hassan, Wan Amal Hayati Wan; Zakaria, Zubaidah; Esa, Ezalia; Yusoff, Yuslina Mat
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Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation
delete2026-02-22
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deleteShakeri, Shayan; Mohammadi, Sanaz; Sadeghipour, Forough; Masoudi, Marjan; Entezam, Mona
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Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children
delete2026-02-21
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deleteLi, Yuzhuopu; Wang, Yang; Liu, Tao; Xiao, Li; Huang, Lan; Zhang, Yongjie; Xiang, Yan; Yu, Jie
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Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family
delete2026-02-20
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deleteTuller, Elena; Samuels, Joshua A.; Northrup, Hope; Richardson, Kate
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Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan
delete2026-02-15
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deleteLin, Hsu-Heng; Chen, Hui-An; Lin, Shyh-Jer; Hsu, Rai-Hseng; Lee, Ni-Chung; Hwu, Wuh-Liang; Ni, Yen-Hsuan; Chou, Yen-Yin; Chiu, Pao-Chin; Peng, Steven Shinn-Forng; Chien, Yin-Hsiu
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Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage
delete2026-02-08
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deleteAlimoradi, Elham; Nejati, Parham; Salmaninejad, Arash; Falsafi, Nafiseh; Molavi, Fatemeh; Alibakhshi, Mohamad Javad; Vairo, Filippo Pinto E.; Klee, Eric W.; Alibakhshi, Reza
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Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue
delete2026-01-29
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deleteUrban, Rhianna M.; Kanwar, Nisha; Holdren, Megan A.; Hoenig, Megan F.; Rust, Laura M.; Wick, Myra J.; Ferber, Matthew J.; Niu, Zhiyv; Gupta, Sounak; Shen, Wei
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A Novel A-Kinase-Anchoring Protein 9 Variant in Premature Coronary Artery Disease: A Case Series
delete2026-01-23
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deleteJiao, Yuemiao; Wang, Minxian; Qiang, Guifen; Zhao, Li; Xi, Ziwei; Yu, Yue; Yin, Chengqian; Song, Guangyuan
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Bernard-Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient
delete2026-01-21
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deleteSalem, Mohamed Lemine; Zein, Ektelbenina; Mohamed, Ghaber Sidi
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Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience
delete2026-01-20
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deleteLin, Hsu-heng; Tsai, Meng-ju Melody; Chen, Hui-an; Hsu, Rai-hseng; Lin, Yun-syuan; Lin, Yi-lin; Hsu, Ching; Chien, Yin-hsiu; Hwu, Wuh-liang; Lee, Ni-chung
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