OOIR: Observatory of International Research

Papers

(The TQCC of Annals of Human Genetics is 3. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-05-01 to 2024-05-01.)

Article	Citations
Mini‐review: Role of the PI3K/Akt pathway and tyrosine phosphatases in Alzheimer's disease susceptibility	19
A role for the MEGF6 gene in predisposition to osteoporosis	15
Interaction between the genetic variant of rs696217‐ghrelin and food intake and obesity and dyslipidemia	13
NCAPH is upregulated in endometrial cancer and associated with poor clinicopathologic characteristics	13
An epigenome‐wide DNA methylation study of patients with COVID‐19	13
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes	11
H‐MAGMA, inheriting a shaky statistical foundation, yields excess false positives	10
Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis	8
Association of variants inPTPN22,CTLA‐4,IL2‐RA, andINSgenes with type 1 diabetes in Emiratis	8
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing	7
Differential mutational profiles of familial Mediterranean fever in North Africa	6
Lack of association between the GNB3 rs5443, HIF1A rs11549465 polymorphisms, physiological and functional characteristics	6
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH	6
Prenatal diagnosis of Miller–Dieker syndrome by chromosomal microarray	6
PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India	6
Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and H‐type hypertension: A systematic review and meta‐analysis	6
Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients	5
Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder	5
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing	5
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature	5
An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families	5
Histone modification: Biomarkers and potential therapies in colorectal cancer	5
Hydrops fetalis in PKD1L1‐related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum	5
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy	5
Role of innate immune receptors TLR4 and TLR2 polymorphisms in systemic lupus erythematosus susceptibility	4

Genomic testing and counseling: The contribution of next‐generation sequencing to epilepsy genetics	4
Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism	4
Study of variants in genes implicated in rare familial migraine syndromes and their association with migraine in 200,000 exome‐sequenced UK Biobank participants	4
NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity	4
External hydrocephalus as a prenatal feature of noonan syndrome	4
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients	4
Genetics of ataxia telangiectasia in a highly consanguineous population	4
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants	3
An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease	3
The role of WNT1 mutant variant (WNT1^c.677C>T) in osteogenesis imperfecta	3
A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness	3
Identification and analysis of genes associated with lung adenocarcinoma by integrated bioinformatics methods	3
A large‐scale genetic correlation scan between rheumatoid arthritis and human blood metabolites	3
RT‐PCR analysis of mRNA revealed the splice‐altering effect of rare intronic variants in monogenic disorders	3
The hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region	3
Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A)	3
Genetics background of β‐thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization	3
Crosstalk between miR‐203 and PKCθ regulates breast cancer stem cell markers	3
DRD4 polymorphism associated with greater positive affect in response to negative and neutral social stimuli	3
Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population	3
Atrioventricular canal defect is the classic congenital heart disease in Bardet–Biedl syndrome	3
Effect of high variation in transcript expression on identifying differentially expressed genes in RNA‐seq analysis	3