| Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations | Molecular Genetics & Genomic Medicine | 25 days | save |  |  |  |
| Targeted copy number variant identification across the neurodegenerative disease spectrum | Molecular Genetics & Genomic Medicine | 25 days | save | | | |
| Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies | Molecular Genetics & Genomic Medicine | 26 days | save | | | |
| Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome | Molecular Genetics & Genomic Medicine | 26 days | save | | | |
| Cernunnos defect in an Iranian patient with T− B+ NK+ severe combined immunodeficiency: A case report and review of the literature | Molecular Genetics & Genomic Medicine | 26 days | save | | | |
| Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study | Molecular Genetics & Genomic Medicine | 26 days | save | | | |
| Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract | Molecular Genetics & Genomic Medicine | 27 days | save | | | |
| ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration | Molecular Genetics & Genomic Medicine | 27 days | save | | | |
| Noninvasive prenatal prediction of fetal haplotype with Spearman rank correlation analysis model | Molecular Genetics & Genomic Medicine | 30 days | save | | | |
| The significance of the fusion partner gene genomic neighborhood analysis in translocation‐defined tumors | Molecular Genetics & Genomic Medicine | 33 days | save | | | |
| Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago | Molecular Genetics & Genomic Medicine | 33 days | save | | | |
| Molecular heterogeneity ofβ‐thalassemia variants in the Eastern region of Morocco | Molecular Genetics & Genomic Medicine | 34 days | save | | | |
| Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay | Molecular Genetics & Genomic Medicine | 35 days | save | | | |
| Rare variant of TBL1XR1 in West syndrome: A case report | Molecular Genetics & Genomic Medicine | 35 days | save | | | |
| Germline mutations in Chinese ovarian cancer with or without breast cancer | Molecular Genetics & Genomic Medicine | 35 days | save | | | |
| Construction of three‐gene‐based prognostic signature and analysis of immune cells infiltration in children and young adults with B‐acute lymphoblastic leukemia | Molecular Genetics & Genomic Medicine | 36 days | save | | | |
| Controversial molecular functions of CBS versus non‐CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review | Molecular Genetics & Genomic Medicine | 40 days | save | | | |
| Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome | Molecular Genetics & Genomic Medicine | 43 days | save | | | |
| A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly | Molecular Genetics & Genomic Medicine | 48 days | save | | | |
| Saudi Arabian CML patient with a novel four‐way translocation at t(9;22;5;2)(q34;q11.2;p13;q44) | Molecular Genetics & Genomic Medicine | 48 days | save | | | |
| Systematic analysis of the causes of NIPS sex chromosome aneuploidy false‐positive results | Molecular Genetics & Genomic Medicine | 49 days | save | | | |
| Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study | Molecular Genetics & Genomic Medicine | 49 days | save | | | |
| Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women | Molecular Genetics & Genomic Medicine | 56 days | save | | | |
| Imputed expression of schizophrenia‐associated genes and cognitive measures in patients with schizophrenia | Molecular Genetics & Genomic Medicine | 58 days | save | | | |
| Interpretation challenge of small copy number variations in the imprinting regions | Molecular Genetics & Genomic Medicine | 61 days | save | | | |
| Knowledge and attitude of pregnant women in the Kingdom of Saudi Arabia toward Noninvasive prenatal testing: A single center study | Molecular Genetics & Genomic Medicine | 61 days | save | | | |
| Mutation spectrum of congenital heart disease in a consanguineous Turkish population | Molecular Genetics & Genomic Medicine | 61 days | save | | | |
| Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature | Molecular Genetics & Genomic Medicine | 63 days | save | | | |
| A novel FOXP3 mutation in a Chinese child with IPEX‐associated membranous nephropathy | Molecular Genetics & Genomic Medicine | 71 days | save | | | |
| A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth | Molecular Genetics & Genomic Medicine | 71 days | save | | | |
| Noninvasive prenatal diagnosis based on cell‐free DNA for tuberous sclerosis: A pilot study | Molecular Genetics & Genomic Medicine | 72 days | save | | | |
| Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin | Molecular Genetics & Genomic Medicine | 75 days | save | | | |
| Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population | Molecular Genetics & Genomic Medicine | 75 days | save | | | |
| Quadruple genetic variants in a sporadic ALS patient | Molecular Genetics & Genomic Medicine | 75 days | save | | | |
| A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR | Molecular Genetics & Genomic Medicine | 76 days | save | | | |
| Clinical findings from the landmark MEF2C‐related disorders natural history study | Molecular Genetics & Genomic Medicine | 77 days | save | | | |
| Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients | Molecular Genetics & Genomic Medicine | 77 days | save | | | |
| Profiling of circulating chromosome 21‐encoded microRNAs, miR‐155, and let‐7c, in down syndrome | Molecular Genetics & Genomic Medicine | 78 days | save | | | |
| Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient | Molecular Genetics & Genomic Medicine | 80 days | save | | | |
| The use of telemedicine in cardiogenetics clinical practice during the COVID‐19 pandemic | Molecular Genetics & Genomic Medicine | 82 days | save | | | |
| Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases | Molecular Genetics & Genomic Medicine | 83 days | save | | | |
| Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family | Molecular Genetics & Genomic Medicine | 83 days | save | | | |
| X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro | Molecular Genetics & Genomic Medicine | 83 days | save | | | |
| Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics | Molecular Genetics & Genomic Medicine | 83 days | save | | | |
| Gene interaction analysis of psoriasis in Chinese Han population | Molecular Genetics & Genomic Medicine | 91 days | save | | | |
| Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing | Molecular Genetics & Genomic Medicine | 91 days | save | | | |
| Distribution of vitamin D‐binding protein/group‐specific component gene subtypes in Kuwaiti population | Molecular Genetics & Genomic Medicine | 91 days | save | | | |
| Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review | Molecular Genetics & Genomic Medicine | 91 days | save | | | |
| Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis | Molecular Genetics & Genomic Medicine | 91 days | save | | | |
| A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia | Molecular Genetics & Genomic Medicine | 91 days | save | | | |
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