Cell Press has been chosen by The American Society of Human Genetics to publish its premier monthly journal from January 2008. The American Journal of Human Genetics (AJHG) is an exciting new venture for Cell Press as its first society-owned journal. The American Society of Human Genetics (ASHG) and Cell Press anticipate tremendous synergies between AJHG content and that of the 12 Cell Press titles, including Cell, Molecular Cell, Current Biology, and Immunity.Since its inception in 1948, The American Journal of Human Genetics has provided a record of research and review relating to heredity in humans, and to the application of genetic principles in medicine and public policy, as well as in related areas of molecular and cell biology.
细胞出版社已被美国人类遗传学学会选中，从2008年1月开始出版其首要月刊。《美国人类遗传学杂志》（AJHG）是细胞出版社作为其第一个社会拥有的杂志的一个令人兴奋的新冒险。美国人类遗传学会（ASHG）和细胞出版社预计AJHG的内容和细胞出版社的12个标题之间的巨大协同作用，包括细胞，分子细胞，当代生物学和免疫。自1948年创刊以来，美国人类遗传学杂志提供了与人类遗传相关的研究和评论记录，以及将遗传学原理应用于医学和公共政策以及分子和细胞生物学的有关领域。
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2018.11.008
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
来源期刊：American Journal of Human GeneticsDOI：10.1016/j.ajhg.2019.01.012
ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.01.002
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2018.12.009
Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.06.003
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
来源期刊：American Journal of Human GeneticsDOI：10.1016/j.ajhg.2019.02.006
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.05.019
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals
来源期刊：American Journal of Human GeneticsDOI：10.1016/j.ajhg.2018.11.006
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2018.11.007
Systematic Functional Interrogation of Genes in GWAS Loci Identified ATF1 as a Key Driver in Colorectal Cancer Modulated by a Promoter-Enhancer Interaction.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.05.004
Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation.
来源期刊：American journal of human geneticsDOI：10.1016/J.AJHG.2019.04.016
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2018.12.008
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2018.12.014
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.07.018
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.08.006
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.07.014
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.03.017
Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2018.12.020
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2018.12.016
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.03.022
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.07.020
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
来源期刊：American Journal of Human GeneticsDOI：10.1016/j.ajhg.2019.12.001
Using the Data We Have: Improving Diversity in Genomic Research.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.07.008
UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-based Rare-Variant Test.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.11.012
A Fast and Accurate Method for Genome-Wide Scale Phenome-Wide G × E Analysis and Its Application to UK Biobank.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.10.008
Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.05.007
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
来源期刊：American Journal of Human GeneticsDOI：10.1016/j.ajhg.2019.09.025
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.06.015
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.11.002
Genome-wide Significance Thresholds for Admixture Mapping Studies.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.01.008
Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver
来源期刊：American Journal of Human GeneticsDOI：10.1016/j.ajhg.2019.05.010
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.11.013
Integrating Clinical Data and Imputed Transcriptome from GWAS to Uncover Complex Disease Subtypes: Applications in Psychiatry and Cardiology.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.10.012
Identification of African-Specific Admixture between Modern and Archaic Humans.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.11.005
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.01.007
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.01.009
cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression
来源期刊：American Journal of Human GeneticsDOI：10.1016/j.ajhg.2019.08.003
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.02.026
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.02.002
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.09.011
Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population
来源期刊：American Journal of Human GeneticsDOI：10.1016/j.ajhg.2019.09.016
CÓDIGO ANEURISMA ¿UNA REALIDAD NECESARIA?
来源期刊：American Journal of Human GeneticsDOI：10.20960/angiologia.00085
Late prognosis of surviving patients after open surgical repair of a ruptured abdominal aortic aneurysm
来源期刊：American Journal of Human GeneticsDOI：10.20960/angiologia.00056
¿EXISTE AUN LA ZONA DE “NO STENT”? RESULTADOS INICIALES DE STENTING EN ARTERIA POPLITEA EN PACIENTES CON ISQUEMIA CRÍTICA
来源期刊：American Journal of Human GeneticsDOI：10.20960/angiologia.00038
Investigación cooperativa en la SEACV. La Red de Investigación Vascular (RIV)
来源期刊：American Journal of Human GeneticsDOI：10.20960/ANGIOLOGIA.00065
Erratum: De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (The American Journal of Human Genetics (2019) 104(1) (139–156), (S0002929718304531) (10.1016/j.ajhg.2018.12.002))
来源期刊：American Journal of Human GeneticsDOI：10.1016/J.AJHG.2019.01.003
Erratum : Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 (The American Journal of Human Genetics (2018) 102(6) (1115–1125), (S000292971830140X), (10.1016/j.ajhg.2018.04.008))
来源期刊：American Journal of Human GeneticsDOI：10.1016/J.AJHG.2019.08.007
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
来源期刊：American journal of human geneticsDOI：10.1016/j.ajhg.2019.10.004
Reflexión y prudencia: paclitaxel en el tratamiento de la enfermedad de la arteria femoral superficial
来源期刊：American Journal of Human GeneticsDOI：10.20960/ANGIOLOGIA.00045
Tiempo de epitelización y factores pronóstico en úlcera de etiología venosa en tres hospitales
来源期刊：American Journal of Human GeneticsDOI：10.20960/ANGIOLOGIA.00018
