| Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa | Molecular Genetics & Genomic Medicine | 1 day | save |  |  |  |  |
| Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti | Molecular Genetics & Genomic Medicine | 1 day | save | | | | |
| The development of the PlexiQoL: A patient‐reported outcome measure for adults with neurofibromatosis type 1‐associated plexiform neurofibromas | Molecular Genetics & Genomic Medicine | 1 day | save | | | | |
| Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia | Molecular Genetics & Genomic Medicine | 7 days | save | | | | |
| Insertion of an Alu‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome | Molecular Genetics & Genomic Medicine | 7 days | save | | | | |
| A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation | Molecular Genetics & Genomic Medicine | 9 days | save | | | | |
| A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene | Molecular Genetics & Genomic Medicine | 9 days | save | | | | |
| De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families | Molecular Genetics & Genomic Medicine | 10 days | save | | | | |
| Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome | Molecular Genetics & Genomic Medicine | 14 days | save | | | | |
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| Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy | Molecular Genetics & Genomic Medicine | 14 days | save | | | | |
| Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management | Molecular Genetics & Genomic Medicine | 16 days | save | | | | |
| Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening | Molecular Genetics & Genomic Medicine | 16 days | save | | | | |
| Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree | Molecular Genetics & Genomic Medicine | 20 days | save | | | | |
| Screening lncRNAs with diagnostic and prognostic value for human stomach adenocarcinoma based on machine learning and mRNA‐lncRNA co‐expression network analysis | Molecular Genetics & Genomic Medicine | 20 days | save | | | | |
| Forensic applications and genetic characterization of Liaoning Han population revealed by extended set of autosomal STRs | Molecular Genetics & Genomic Medicine | 22 days | save | | | | |
| A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review | Molecular Genetics & Genomic Medicine | 24 days | save | | | | |
| Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease | Molecular Genetics & Genomic Medicine | 27 days | save | | | | |
| Genomic study of dilated cardiomyopathy in a group of Mexican patients using site‐directed next generation sequencing | Molecular Genetics & Genomic Medicine | 27 days | save | | | | |
| Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient | Molecular Genetics & Genomic Medicine | 28 days | save | | | | |
| Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review | Molecular Genetics & Genomic Medicine | 28 days | save | | | | |
| The genetic basis for the inverse relationship between rheumatoid arthritis and schizophrenia | Molecular Genetics & Genomic Medicine | 29 days | save | | | | |
| REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis | Molecular Genetics & Genomic Medicine | 29 days | save | | | | |
| Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks | Molecular Genetics & Genomic Medicine | 29 days | save | | | | |
| Screening of germline mutations in young Rwandan patients with breast cancers | Molecular Genetics & Genomic Medicine | 29 days | save | | | | |
| Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis | Molecular Genetics & Genomic Medicine | 29 days | save | | | | |
| The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l‐hydroxylase deficiency in a Chinese cohort | Molecular Genetics & Genomic Medicine | 29 days | save | | | | |
| A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate | Molecular Genetics & Genomic Medicine | 31 days | save | | | | |
| Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD | Molecular Genetics & Genomic Medicine | 32 days | save | | | | |
| A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient | Molecular Genetics & Genomic Medicine | 32 days | save | | | | |
| Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition | Molecular Genetics & Genomic Medicine | 32 days | save | | | | |
| A novel GABRB3 variant in Dravet syndrome: Case report and literature review | Molecular Genetics & Genomic Medicine | 34 days | save | | | | |
| Direct‐to‐consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience | Molecular Genetics & Genomic Medicine | 35 days | save | | | | |
| Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy | Molecular Genetics & Genomic Medicine | 35 days | save | | | | |
| Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early‐onset dementia | Molecular Genetics & Genomic Medicine | 35 days | save | | | | |
| NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient | Molecular Genetics & Genomic Medicine | 36 days | save | | | | |
| The single nucleotide variant at c.662A>G in human RRM2B is a loss‐of‐function mutation | Molecular Genetics & Genomic Medicine | 36 days | save | | | | |
| Characterization of CRB1 splicing in retinal organoids derived from a patient with adult‐onset rod‐cone dystrophy caused by the c.1892A>G and c.2548G>A variants | Molecular Genetics & Genomic Medicine | 36 days | save | | | | |
| Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation | Molecular Genetics & Genomic Medicine | 36 days | save | | | | |
| A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features | Molecular Genetics & Genomic Medicine | 37 days | save | | | | |
| A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome | Molecular Genetics & Genomic Medicine | 37 days | save | | | | |
| Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1 | Molecular Genetics & Genomic Medicine | 38 days | save | | | | |
| Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder | Molecular Genetics & Genomic Medicine | 39 days | save | | | | |
| Multimodal imaging and genetic characteristics of Chinese patients with USH2A‐associated nonsyndromic retinitis pigmentosa | Molecular Genetics & Genomic Medicine | 44 days | save | | | | |
| Quality of life and pain in patients with thalidomide embryopathy in Japan | Molecular Genetics & Genomic Medicine | 44 days | save | | | | |
| A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome | Molecular Genetics & Genomic Medicine | 46 days | save | | | | |
| First report of a Mexican family with mutation in the CDH1 gene | Molecular Genetics & Genomic Medicine | 47 days | save | | | | |
| Prenatal diagnosis of a rareβ‐thalassemia gene －90 (C>T) (HBB: c.‐140 C>T) mutation associated with deletional Hb H disease (‐‐SEA/‐α4.2) | Molecular Genetics & Genomic Medicine | 48 days | save | | | | |
| TP63‐mutation as a cause of prenatal lethal multicystic dysplastic kidneys | Molecular Genetics & Genomic Medicine | 49 days | save | | | | |
| Genetic diversity, forensic feature, and phylogenetic analysis of Guizhou Tujia population via 19 X‐STRs | Molecular Genetics & Genomic Medicine | 49 days | save | | | | |
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