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The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum
Abstract Progressive familial intrahepatic cholestasis (PFIC) is a rare genetically heterogeneous group of autosomal reces...
Annals Of Human Genetics
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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. ...
Annals Of Human Genetics
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Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population
Abstract Fluoropyrimidines are chemotherapy drugs that may cause severe adverse events, and their metabolism occurs by dih...
Annals Of Human Genetics
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CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population
Abstract Cystic fibrosis is the most common life-limiting autosomal recessive disease in western countries with an inciden...
Annals Of Human Genetics
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Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants
Abstract Alport syndrome is a genetic disorder affecting the basement membranes of the kidney, ear and eye, and represents...
Annals Of Human Genetics
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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...
Annals Of Human Genetics
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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...
Annals Of Human Genetics
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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...
Annals Of Human Genetics
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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...
Annals Of Human Genetics
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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...
Annals Of Human Genetics
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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...
Annals Of Human Genetics
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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...
Annals Of Human Genetics
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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
Abstract In this study, we aimed to investigate the relationship between the genetic variant of rs696217-ghrelin and faste...
Annals Of Human Genetics
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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...
Annals Of Human Genetics
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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 ...
Annals Of Human Genetics
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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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