OOIR: Observatory of International Research

Papers

(The TQCC of Annals of Human Genetics is 2. 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 2020-11-01 to 2024-11-01.)

Article	Citations
Mini‐review: Role of the PI3K/Akt pathway and tyrosine phosphatases in Alzheimer's disease susceptibility	23
Interaction between the genetic variant of rs696217‐ghrelin and food intake and obesity and dyslipidemia	17
An epigenome‐wide DNA methylation study of patients with COVID‐19	15
H‐MAGMA, inheriting a shaky statistical foundation, yields excess false positives	11
Histone modification: Biomarkers and potential therapies in colorectal cancer	11
Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and H‐type hypertension: A systematic review and meta‐analysis	8
PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India	8
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing	7
Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder	7
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy	7
A large‐scale genetic correlation scan between rheumatoid arthritis and human blood metabolites	6
Role of innate immune receptors TLR4 and TLR2 polymorphisms in systemic lupus erythematosus susceptibility	6
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature	6
A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness	6
Uncovering cilia function in glial development	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
Hydrops fetalis in PKD1L1‐related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum	5
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients	5
An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families	5
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
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting	4
The genetic era of childhood cancer: Identification of high‐risk patients and germline sequencing approaches	4
External hydrocephalus as a prenatal feature of noonan syndrome	4
Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies	4

Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population	4
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
Using Drosophila amyloid toxicity models to study Alzheimer's disease	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
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants	3
The hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region	3
Genetics background of β‐thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization	3
Reassessing the association of MUC5B with survival in idiopathic pulmonary fibrosis	3
Pitfalls of predicting age‐related traits by polygenic risk scores	3
An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease	3
Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A)	3
Genetics of ataxia telangiectasia in a highly consanguineous population	3
Identification and analysis of genes associated with lung adenocarcinoma by integrated bioinformatics methods	3
A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious puberty	2
Association of blood lipid profiles and asthma: A bidirectional two‐sample Mendelian randomization study	2
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population	2
Gene‐based association analysis identified a novel gene associated with systemic lupus erythematosus	2
The impact of obesity on lung function measurements and respiratory disease: A Mendelian randomization study	2
Development of molecular diagnostic platform for α⁰‐thalassemia 44.6 kb (Chiang Rai, ‐‐^CR) deletion in individuals with microcytic red blood cells across Thailand	2
Identification of novel pleiotropic gene for bone mineral density and lean mass using the cFDR method	2
Identification of the β thalassemia allele β^–50 and analysis of the hematology data of carriers in a southern Chinese population	2
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia	2
Mutation spectrum of hereditary myopathies in Turkish patients and novel variants	2
Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea	2
The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)	2
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	2
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correl	2
Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people	2
Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina	2