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Molecular Genetics & Genomic Medicine|March 7, 2025
Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With PolydactylyYongzhen Qi, Kai Liu, Yuda Wei, et al.
Molecular Genetics & Genomic Medicine|November 4, 2024
Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease-Specific Growth ChartNaye Choi, Hwa Young Kim, Jung Min Ko
Molecular Genetics & Genomic Medicine|November 19, 2024
Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based SequencingWei Cheng David Kuek, Chean Nee Chai, Wei Ming Jason Tham, et al.
Molecular Genetics & Genomic Medicine|July 24, 2024
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-SaguenayTeodora Chamova, Neviana Ivanova, Sylvia Cherninkova, et al.
Molecular Genetics & Genomic Medicine|August 5, 2024
Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX geneYang You, Wenjuan Wu, Yakun Du, et al.
Molecular Genetics & Genomic Medicine|August 7, 2024
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variantsSigurd Dobloug, Ulrika Kjellström, Glenn Anderson, et al.
Molecular Genetics & Genomic Medicine|August 14, 2024
Genetics healthcare providers' experiences counseling patients with results from consumer genomic testingMagan Trottier, Dina Green, Hannah Ovadia, et al.
Molecular Genetics & Genomic Medicine|July 4, 2024
A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndromeHe Miao, Yulin Zhou, Silun Ge, et al.
Molecular Genetics & Genomic Medicine|July 3, 2024
Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestationDongming Han, Ziwei Wang, Xuan Chen, et al.
Molecular Genetics & Genomic Medicine|July 23, 2024
Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic reviewNeel S Iyer, Matthew H Mossayebi, Tracy J Gao, et al.
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