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The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum
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Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene
Abstract Pathogenic variants in the AP4B1 gene lead to a rare form of hereditary spastic paraplegia (HSP) known as SPG47. ...
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Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population
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CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population
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Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants
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Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Abstract TRAPPC4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MIM# 618741) is a recen...
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Inhibition of miR‐499‐5p expression improves nonalcoholic fatty liver disease
Abstract Objective Nonalcoholic fatty liver disease (NAFLD) is one of the leading causes of chronic liver diseases. Howeve...
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Population structure and relatedness estimates in a Mexican sample
Abstract Population stratification (PS) is a confounding factor in genome-wide association studies (GWASs) and also an int...
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Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia
Abstract Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency, hereditary spherocytosis (HS), and alpha thalasse...
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Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies
Abstract Angelman syndrome (AS) (OMIM#105830) is an imprinting disorder caused due to alterations in the maternal chr 15q1...
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Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature
Abstract Background: Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic ...
Annals Of Human Genetics
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Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit
Abstract The PhenX Toolkit (https://www.phenxtoolkit.org/) is an online catalog of recommended measurement protocols to fa...
Annals Of Human Genetics
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Genetics of ataxia telangiectasia in a highly consanguineous population
Abstract Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler y...
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Identification of the β thalassemia allele β–50 and analysis of the hematology data of carriers in a southern Chinese population
Abstract During a routine test, we identified a 38-year-old man who had a positive hematology screening result but was neg...
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The hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region
Abstract Although imputation of missing SNP results has been widely used in genetic studies, claims about the quality...
Annals Of Human Genetics
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Interaction between the genetic variant of rs696217‐ghrelin and food intake and obesity and dyslipidemia
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PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India
Abstract The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non-DFNB12 proban...
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Effect of high variation in transcript expression on identifying differentially expressed genes in RNA‐seq analysis
Summary Great efforts have been made on the algorithms that deal with RNA-seq data to enhance the accuracy and efficiency ...
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An epigenome‐wide DNA methylation study of patients with COVID‐19
Abstract In the early 2000s, emerging SARS-CoV-2, which is highly pathogenic, posed a great threat to public health. Durin...
Annals Of Human Genetics
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Gene‐based association analysis identified a novel gene associated with systemic lupus erythematosus
Summary Objective Systemic lupus erythematosus (SLE) is a complex autoimmune disease with strong genetic predisposition. G...
Annals Of Human Genetics
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An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease
Abstract Background Ring finger protein 213 (RNF213) is a susceptibility gene of moyamoya disease (MMD). A previous case...
Annals Of Human Genetics
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External hydrocephalus as a prenatal feature of noonan syndrome
Abstract Brain malformations have been reported in RASopathies, including postnatal external hydrocephalus, a nonobstructi...
Annals Of Human Genetics
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An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families
Abstract PRUNE1 is linked to a wide range of neurodevelopmental and neurodegenerative phenotypes. Multiple pathogenic miss...
Annals Of Human Genetics
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Identification of novel pleiotropic gene for bone mineral density and lean mass using the cFDR method
Abstract Bone mineral density (BMD) and whole-body lean mass (WBLM) are two important phenotypes of osteoporosis and sarco...
Annals Of Human Genetics
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