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Molecular Genetics & Genomic Medicine|March 15, 2021
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genesLord J J Gowans, Noura Al Dhaheri, Mary Li, et al.
Molecular Genetics & Genomic Medicine|March 9, 2021
Total number of reads affects the accuracy of fetal fraction estimates in NIPTIeva Miceikaitė, Charlotte Brasch-Andersen, Christina Fagerberg, et al.
Molecular Genetics & Genomic Medicine|January 29, 2021
Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from IranFarideh Yousefipour, Hossein Mozhdehipanah, Frouzandeh Mahjoubi
Molecular Genetics & Genomic Medicine|February 3, 2021
A novel SPINK5 donor splice site variant in a child with Netherton syndromeDillon Mintoff, Isabella Borg, Julia Vornweg, et al.
Molecular Genetics & Genomic Medicine|November 26, 2021
Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophySiwen Liu, Lin Li, Hairong Wu, et al.
Molecular Genetics & Genomic Medicine|January 16, 2022
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defectsXiangrong Cui, Xueqing Wu, Hongwei Wang, et al.
Molecular Genetics & Genomic Medicine|November 5, 2021
Current status of beta-thalassemia and its treatment strategiesShaukat Ali, Shumaila Mumtaz, Hafiz Abdullah Shakir, et al.
Molecular Genetics & Genomic Medicine|December 31, 2021
Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is associated with juvenile-onset systemic lupus erythematosus, but probably not with other autoimmune rheumatic diseases in childrenIvan Y Bakutenko, Irena D Haurylchyk, Natalia V Nikitchenko, et al.
Molecular Genetics & Genomic Medicine|November 23, 2021
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosisAntonella Fanelli, Silvia Vannelli, Deepak Babu, et al.
Molecular Genetics & Genomic Medicine|November 4, 2022
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencingChen-Yu Lee, Ming-Yu Lo, You-Mei Chen, et al.
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