Citation Impact
1.585 - 2-year Impact Factor
1.797 - 5-year Impact Factor
0.694 - Source Normalized Impact per Paper (SNIP)
0.745 - SCImago Journal Rank (SJR)
Usage
630,519 Downloads
274 Altmetric Mentions
Page 4 of 47
Pediatric high-grade gliomas (pHGGs) are incurable malignant brain cancers. Clear somatic genetic drivers are difficult to identify in the majority of cases. We hypothesized that this may be due to the existen...
Citation: BMC Medical Genetics 2020 21:92
ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathoge...
Citation: BMC Medical Genetics 2020 21:90
The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population.
Citation: BMC Medical Genetics 2020 21:89
Interleukin (IL) 28B polymorphisms encoding pro-inflammatory and anti-inflammatory cytokines trigger diverse clinical outcome of hepatitis virus infection. However, there is controversy concerning the association...
Citation: BMC Medical Genetics 2020 21:88
Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the ci...
Citation: BMC Medical Genetics 2020 21:87
Vascular endothelial growth factor (VEGF) gene is highly polymorphic, and single nucleotide polymorphisms (SNP) of VEGF gene are associate with cancer prognosis. This study aimed to analyze the correlation of ...
Citation: BMC Medical Genetics 2020 21:86
Previous studies found that Ser9Gly (rs6280) might be involved in the occurrence of schizophrenia. However, no consist conclusion has yet been achieved. Compared to the case-control study, the family-based stu...
Citation: BMC Medical Genetics 2020 21:85
Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life...
Citation: BMC Medical Genetics 2020 21:84
The role of angiotensin II type 1 receptor (AT1R) as a key player in type 2 diabetes mellitus (T2DM) complicated with hypertension remains controversial. The present case-control study systematically investigated...
Citation: BMC Medical Genetics 2020 21:83
Investigations in genetics have provided valuable information about the correlation between gene variants and tendinopathy. Single Nucleotide Polymorphisms of COL5A1 gene are reported to be involved in Achille...
Citation: BMC Medical Genetics 2020 21:82
Prostate cancer is one of the five common cancers and has the second incidence rate and the third mortality rate in Iranian population. The purpose of this study was to evaluate the association of rs16901979, ...
Citation: BMC Medical Genetics 2020 21:81
Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, wher...
Citation: BMC Medical Genetics 2020 21:80
Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chr...
Citation: BMC Medical Genetics 2020 21:79
The protein Kruppel-like factor 13 (KLF13) is a member of the KLF family and has been identified as a cardiac transcription factor that is involved in heart development. However, the relationship between KLF13...
Citation: BMC Medical Genetics 2020 21:78
Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generatio...
Citation: BMC Medical Genetics 2020 21:77
Despite recent findings that epithelial cell adhesion molecule (EPCAM) deletions can cause Lynch syndrome (LS), its clinical characteristics are still unknown. We present the first case of ileum cancer in a patie...
Citation: BMC Medical Genetics 2020 21:76
β Thalassemia is one of the most common groups of hereditary haemoglobinopathies. Affected people with thalassemia major are dependent on regular blood transfusion which on the long term leads to iron overload...
Citation: BMC Medical Genetics 2020 21:75
PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is main...
Citation: BMC Medical Genetics 2020 21:74
Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000–3000) autosomal-dominant disorder with high risk of venous thromboembolis...
Citation: BMC Medical Genetics 2020 21:73
Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either o...
Citation: BMC Medical Genetics 2020 21:72
Herein, we collected currently published data to comprehensively evaluate the impact of the FCGR2A (Fc fragment of IgG receptor IIa) rs1801274 and MUC5B (mucin 5B, oligomeric mucus/gel-forming) rs35705950 variati...
Citation: BMC Medical Genetics 2020 21:71
Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus.
Citation: BMC Medical Genetics 2020 21:70
The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in ...
Citation: BMC Medical Genetics 2020 21:69
The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal ...
Citation: BMC Medical Genetics 2020 21:68
Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients ar...
Citation: BMC Medical Genetics 2020 21:67
Ischemic Stroke (IS) is the most common neurological emergency disease and has become the second most frequent cause of death after coronary artery disease in 2015. Owing to its high fatality rate and narrow t...
Citation: BMC Medical Genetics 2020 21:66
Several obesity susceptibility loci in genes, including GNPDA2, SH2B1, TMEM18, MTCH2, CDKAL1, FAIM2, and MC4R, have been identified by genome-wide association studies. The purpose of this study was to investigate...
Citation: BMC Medical Genetics 2020 21:65
The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been assoc...
Citation: BMC Medical Genetics 2020 21:64
Brucellosis is a quite normal zoonotic infection, which is caused by immediate contact with animals infected with Brucella or its products. IL-10 (− 1082 G/A, − 819 C/T, − 592C/A) and IL-6 -174 G/C polymorphis...
Citation: BMC Medical Genetics 2020 21:63
To examine the association between lipoprotein(a) (Lp(a)) levels, LPA (rs10455872 and rs3798220) and IL1F9 (rs13415097) single nucleotide polymorphisms (SNPs) with coronary artery calcification (CAC), an importan...
Citation: BMC Medical Genetics 2020 21:62
Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryot...
Citation: BMC Medical Genetics 2020 21:61
Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is ...
Citation: BMC Medical Genetics 2020 21:60
Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant l...
Citation: BMC Medical Genetics 2020 21:59
Following publication of the original article [1], the authors flagged that the name of ‘Asal Hojjat’ was misspelled; the name had been spelled as ‘Asal Hojat’.
Citation: BMC Medical Genetics 2020 21:58
Mutations in the ADAMTS13 gene family have been reported to cause congenital thrombotic thrombocytopenic purpura (cTTP), a rare disease characterized by thrombocytopenia and hemolytic anemia. Nearly 150 causative...
Citation: BMC Medical Genetics 2020 21:57
The prognosis of the glioblastoma (GBM) is dismal. This study aims to select an optimal RNA signature for prognostic prediction of GBM patients.
Citation: BMC Medical Genetics 2020 21:56
Glutathione S-transferases play a key role in the detoxification of persistent oxidative stress products which are one of several risks factors that may be associated with many types of disease processes such ...
Citation: BMC Medical Genetics 2020 21:55
The ABCG2 rs2231142 single nucleotide polymorphism (SNP) is one of the most significant genetic variants associated with hyperuricemia (HUA) in Asian populations. However, the risk of ABCG2 rs2231142 variants for...
Citation: BMC Medical Genetics 2020 21:54
Adolescence is a distinctive stage of various changes and is noted as peak age for onset of many psychiatric disorders, especially linked to stress and depression. Several genetic variations are being increasi...
Citation: BMC Medical Genetics 2020 21:53
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal t...
Citation: BMC Medical Genetics 2020 21:52
The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal r...
Citation: BMC Medical Genetics 2020 21:51
Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies P...
Citation: BMC Medical Genetics 2020 21:50
This study wants to know the genetic cause of preeclampsia (PE) which is a leading cause of maternal and perinatal death, but the underlying molecular mechanisms that cause PE remain poorly understood. Many si...
Citation: BMC Medical Genetics 2020 21:49
This study was aimed to investigate the regulatory role of microRNA-210 (miRNA-210) on the progression of liver cancer and Hepatitis B virus (HBV)-associated liver cancer.
Citation: BMC Medical Genetics 2020 21:48
Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromusc...
Citation: BMC Medical Genetics 2020 21:47
Osteoarthritis (OA) is the most common form of arthritis and a leading cause of disability. This study attempted to investigate the key mRNAs and miRNAs related to OA.
Citation: BMC Medical Genetics 2020 21:46
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes...
Citation: BMC Medical Genetics 2020 21:45
Abnormal calcium homeostasis related to the development of hypertension. As the key regulator of intracellular calcium concentration, voltage-dependent calcium channels (VDCCs), the variations in these genes m...
Citation: BMC Medical Genetics 2020 21:44
Individuals with δβ-thalassemia/HPFH and β-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δβ-thalassemia in southern China has been reported to date. The purpos...
Citation: BMC Medical Genetics 2020 21:43
von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous ...
Citation: BMC Medical Genetics 2020 21:42
Citation Impact
1.585 - 2-year Impact Factor
1.797 - 5-year Impact Factor
0.694 - Source Normalized Impact per Paper (SNIP)
0.745 - SCImago Journal Rank (SJR)
Usage
630,519 Downloads
274 Altmetric Mentions
As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times. Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.