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Molecular Genetics and Genomic Medicine

IF1.6
Papers14
Citations3721
Journal Papers 14
Publication Date
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Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-10-01
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deleteOAAI
deleteLee, Crystle; Casey, Ellen; Amor, David J.
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New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-10-01
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deleteBonilla-Navarrete, Sebastian; Prieto, Luis Eduardo; Carvajal, Laura Valentina; Olave-Rodriguez, Jorge Andres; Rodriguez-Rojas, Lisa Ximena; Nastasi-Catanese, Jose Antonio
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Phenotypic and Genetic Characteristics of 24 Cases of Early Infantile Epileptic Encephalopathy in East China, Including a Rare Case of Biallelic UGDH Mutations (vol 11,e2269,2023)
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-24
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deleteJiang, L.; Bi, S.; Lin, L.; He, F.; Deng, F.
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Association Between KLF1, BCL11A and HBS1L-MYB Polymorphisms and Phenotypes With β-Thalassemia Patients in Hainan
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-24
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deleteOAAI
deleteHu, Junjie; Chen, Huaye; Gong, Wei; Feng, Min; Fu, Shidong; Xu, Weihua; Ma, Zhichao; Fu, Shengmiao; Chen, Xinping
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Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-23
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deleteOAAI
deleteMiao, Yan; Li, Jiashan; Liang, Siying; Li, Shuo
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geneEX: An Integrated Phenotype-Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-22
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deleteZhang, Junyu; Liu, Dongyun; Chen, Mei; Fang, Yunqian; Dai, Kun; Zhu, Xiaoxi; Xu, Qingqing; Hou, Meiling; Wang, Li; Wang, Jianfeng; Zhang, Jun; Liang, Bo; Teng, Xiaoming
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Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-19
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deleteGrech, Laura; Grech, Celine Ann; Spiteri, Jasmine; Mintoff, Dillon; Pace, Nikolai Paul
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A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-18
delete1
deleteOAAI
deleteYang, Wei; Zhou, Jian; Si, Nuo; Zhang, Xue
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Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-13
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deleteJarral, Afeefa; Basharat, Rabia; Sajid, Sundus; Arshad, Kinza; Ali, Imran; Ansar, Muhammad
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Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-09
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deleteStokes, Stephanie; Snipes, Madeline; Moore, Lee D.; Schlabritz-Lutsevich, Natalia; Amy, Vidalin; Maher III, James
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De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss-of-Function Variant Resolved by RNA Analysis
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-09
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deleteOAAI
deleteAkimova, Daria; Guseva, Daria; Nefedova, Maria; Skoblov, Mikhail
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Chromosomal Abnormalities in Couples Experiencing Recurrent Implantation Failure in West of Iran: A Case-Control Study
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-05
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deleteAsgari, Atefeh; Salehi, Amir Mohammad; Shahbazi, Fatemeh; Ghahremani, Safieh; Saleh, Ebrahim Kamrani
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46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-05
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deleteBaqri, Wafa; Goh, Elaine S.; Berndl, Anne; Seesahai, Judy; Skidmore, Martin; Vaags, Andrea K.; Kekis, Mariana
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Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2023-11-03
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deleteZheng, Zhoushu; Ding, Lu; Wang, Meihong; Zhang, Yinghui; Yang, Yihui; Tang, Ming; Xu, Jun; Wang, Liangjiong; Wu, Junhua; Li, Haibo
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