Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible.Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.
《人类遗传学年鉴》出版与人类遗传学或科学原理和技术在人类遗传学任何方面的应用直接相关的材料。描述可能与人类遗传学相关的其他物种工作的论文也将被考虑。数学模型应尽可能包括数据应用的例子。欢迎作者提交支持性信息，如数据集或额外的图表或表格，这些信息不会在期刊的印刷版上发表，但可以通过网络版查看并存储在网站上。
Update of spectrum c.35delG and c.‐23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12284
Clinical relevance of genome‐wide polygenic score may be less than claimed
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12302
Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12364
Association of polymorphisms in genes coding for antioxidant enzymes and human male infertility
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12286
The role of genetics and epigenetics in the pathogenesis of gestational diabetes mellitus
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12356
Significant association of rare variant p.Gly8Ser in cardiac sodium channel β4‐subunit SCN4B with atrial fibrillation
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12305
DYNC1H1 gene methylation correlates with severity of spinal muscular atrophy
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12288
Expression patterns common and unique to ulcerative colitis and celiac disease
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12293
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12345
Consanguinity: A blessing or menace at population level?
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12308
A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathy
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12287
DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12369
A novel nonsense variant in PLS3 causes X‐linked osteoporosis in a Chinese family
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12344
Population genetics of 15 autosomal STR loci in the Han population of Ili Kazakh Autonomous Prefecture, Northwestern China
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12314
Ancestry informative SNP panels for discriminating the major East Asian populations: Han Chinese, Japanese and Korean
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12320
Association of rs10490924 in ARMS2/HTRA1 with age‐related macular degeneration in the Pakistani population
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12311
Association of MIR146A rs2910164 variation with a predisposition to sporadic breast cancer in a Pakistani cohort
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12316
Genetic model of MS severity predicts future accumulation of disability
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12342
A PEAR1 polymorphism (rs12041331) is associated with risk of coronary artery aneurysm in Kawasaki disease
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12285
Evaluation of methods for adjusting population stratification in genome‐wide association studies: Standard versus categorical principal component analysis
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12339
Associations of the melanocortin 3 receptor C17A + G241A haplotype with body composition and inflammation in African‐American adults
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12315
The rs2516839 variation of USF1 gene is associated with 4‐year mortality of nonagenarian women: The Vitality 90+ study
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12282
Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12360
SIRT1 gene polymorphisms are associated with nondiabetic type 1 cardiorenal syndrome
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12338
Congenital microcephaly‐linked CDK5RAP2 affects eye development
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12343
Application of targeted exome and whole‐exome sequencing for Chinese families with Stargardt disease
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12361
Measuring gene–gene interaction using Kullback–Leibler divergence
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12324
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12307
A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12348
A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12349
N‐acetyltransferase 2 polymorphism and acetylation profiles in Buginese ethnics of Indonesia
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12341
FAAH levels and its genetic polymorphism association with susceptibility to methamphetamine dependence
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12368
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12336
Association between the BHMT gene rs3733890 polymorphism and the efficacy of oral folate therapy in patients with hyperhomocysteinemia
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12326
Differential gene expression analysis of sickle cell anemia in steady and crisis state
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12290
Type 2 diabetes–associated polymorphisms correlate with SIRT1 and TGF‐β1 gene expression
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12363
Association of interleukin‐10‐1082 (‐1087) A > G polymorphisms and periodontitis risk: An updated meta‐analysis based on 26 case‐control studies
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12321
Shared gene signature between pterygium and meibomian gland dysfunction uncovered through gene‐expression meta‐analysis
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12340
Novel mutation in the DSG1 gene causes autosomal‐dominant striate palmoplantar keratoderma in a large Syrian family
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12335
The association of the UHRF1BP1 gene with systemic lupus erythematosus was replicated in a Han Chinese population from mainland China
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12362
5α‐Reductase type 2 deficiency in families from an isolated Andean population in Venezuela
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12358
Chorionic villus sampling experience of a reference perinatal medicine center
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12365
Analysis of 15q11.2 CNVs in an Indian population with schizophrenia
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12300
Using microarray analysis to identify genes and pathways that regulate fetal hemoglobin levels
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12346
Genetic history of the population of Crete
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12328
General regression model: A “model‐free” association test for quantitative traits allowing to test for the underlying genetic model
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12372
Association study of M235T and A‐6G polymorphisms in angiotensinogen gene with risk of developing preeclampsia in Iranian population
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12323
Assessment of candidate folate sensitive‐differentially methylated regions in a randomised controlled trial of continued folic acid supplementation during the second and third trimesters of pregnancy
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12281
Genetic variations and population data on five supplementary STR markers in Lebanon
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12292
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study
来源期刊：Annals of Human GeneticsDOI：10.1111/ahg.12318
