Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics. These include:the molecular basis of human genetic diseasedevelopmental geneticscancer geneticsneurogeneticschromosome and genome structure and functiontherapy of genetic diseasestem cells in human genetic disease and therapy, including the application of iPS cellsgenome-wide association studiesmouse and other models of human diseasesfunctional genomicscomputational genomicsIn addition, the journal also publishes research on other model systems for the analysis of genes, especially when there is an obvious relevance to human genetics.
《人类分子遗传学》集中发表涵盖人类分子遗传学各方面广泛主题的长篇研究论文。这些领域包括：人类遗传病的分子基础发育遗传学癌症遗传学神经遗传学染色体和遗传病的基因组结构和功能治疗人类遗传病和治疗中的干细胞，包括iPS细胞的应用全基因组关联研究小鼠和其他人类疾病模型功能基因组学计算基因组学此外，该杂志还发表了其他基因分析模型系统的研究，特别是与人类遗传学明显相关的研究。
LRRK2 interacts with the vacuolar-type H+-ATPase pump a1 subunit to regulate lysosomal function
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddz088
A genome-wide association study of bitter and sweet beverage consumption.
来源期刊：Human molecular geneticsDOI：10.1093/HMG/DDZ061
EAP1 regulation of GnRH promoter activity is important for human pubertal timing
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy451
A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy423
Ubiquitin specific protease-13 independently regulates parkin ubiquitination and alpha-synuclein clearance in alpha-synucleinopathies
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy365
Corrigendum: Persistent upregulation of the β-tubulin tubb6, linked to muscle regeneration, is a source of microtubule disorganization in dystrophic muscle.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz035
The effect of mutant GBA1 on accumulation and aggregation of α-synuclein.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz005
Loss of MeCP2 in immature neurons leads to impaired network integration
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy338
Validity of polygenic risk scores: are we measuring what we think we are?
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddz205
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy371
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
来源期刊：Human molecular geneticsDOI：10.1093/HMG/DDZ051
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy351
Tissue-specific sex-differences in human gene expression.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz090
Genetic approaches to the treatment of inherited neuromuscular diseases.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz131
Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz007
Hereditary spastic paraplegia: gain‐of‐function mechanisms revealed by new transgenic mouse
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy419
A longitudinal multimodal in vivo molecular imaging study of the 3xTg-AD mouse model shows progressive early hippocampal and taurine loss
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddz045
Synapse diversity and synaptome architecture in human genetic disorders
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddz178
Association of prolactin receptor (PRLR) variants with prolactinomas
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy396
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz194
Diverse and Dynamic DNA Modifications in Brain and Diseases.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz179
Functional characterization of the ZEB2 regulatory landscape
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy440
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy392
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
来源期刊：Human molecular geneticsDOI：10.1093/HMG/DDZ060
Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddy427
Functional muscle recovery following dystrophin and myostatin exon splice modulation in aged mdx mice.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz125
Tbx1 regulates extracellular matrix-cell interactions in the second heart field.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz058
Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy401
Rare and common variant discovery in complex disease: the IBD case study.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz189
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy415
Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz022
Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan‐like syndrome
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy366
Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin deficient muscles through matrix metalloproteinases.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz181
Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy-lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz255
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz066
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddz239
Mice lacking &agr;‐, &bgr;1‐ and &bgr;2‐syntrophins exhibit diminished function and reduced dystrophin expression in both cardiac and skeletal muscle
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy341
SNV identification from single-cell RNA sequencing data.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz207
Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz199
Progress and challenges in development of new therapies for urea cycle disorders.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz140
Dynll1 is essential for development and promotes endochondral bone formation by regulating intraflagellar Dynein function in primary cilia.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz083
Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz249
Long-term environmental impact on object recognition, spatial memory, and reversal learning capabilities in Cacna1c haploinsufficient rats.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz235
FUS-mediated dysregulation of Sema5a, an autism-related gene, in FUS mice with hippocampus-dependent cognitive deficits.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz217
Recent advances in novel therapies for lipid disorders.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz132
Refining genome-wide associated loci for serum uric acid in individuals with African ancestry.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz272
Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.
来源期刊：Human molecular geneticsDOI：10.1093/hmg/ddz184
Integrating Mendelian randomization and multiple-trait colocalization to uncover cell-specific inflammatory drivers of autoimmune and atopic disease
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddz155
Molecular mechanism for the multiple sclerosis risk variant rs17594362
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddz216
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
来源期刊：Human Molecular GeneticsDOI：10.1093/hmg/ddy424
