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Molecular Genetics & Genomic Medicine|July 30, 2021
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMBMaría Luisa Guevara-Fujita, Francia Huaman-Dianderas, Daisy Obispo, et al.
Molecular Genetics & Genomic Medicine|July 31, 2021
The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 diseaseJuan Yang, Xiaoting Ding, Shasha Meng, et al.
Molecular Genetics & Genomic Medicine|July 29, 2021
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humansXiaoyun Yin, Jianxiu Hao, Yuanqing Yao
Molecular Genetics & Genomic Medicine|July 27, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected populationMeagan Cochran, Kelly East, Veronica Greve, et al.
Molecular Genetics & Genomic Medicine|July 28, 2021
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvementFederica Ruscitti, Lucia Trevisan, Giulia Rosti, et al.
Molecular Genetics & Genomic Medicine|June 3, 2022
Cernunnos defect in an Iranian patient with T- B+ NK+ severe combined immunodeficiency: A case report and review of the literatureMahnaz Jamee, Nasrin Khakbazan Fard, Shahrzad Fallah, et al.
Molecular Genetics & Genomic Medicine|June 3, 2022
Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophiesKunka Kamenarova, Kalina Mihova, Nevyana Veleva, et al.
Molecular Genetics & Genomic Medicine|June 6, 2022
Targeted copy number variant identification across the neurodegenerative disease spectrumAllison A Dilliott, Kristina K Zhang, Jian Wang, et al.
Molecular Genetics & Genomic Medicine|June 18, 2022
Rare variants in PKHD1 associated with Caroli syndrome: Two case reportsCarola Giacobbe, Fabiola Di Dato, Daniela Palma, et al.
Molecular Genetics & Genomic Medicine|June 21, 2022
Asymptomatic ASS1 carriers with high blood citrulline levelsHui-An Chen, Rai-Hseng Hsu, Kai-Ling Chang, et al.
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