loading《American Journal of Human Genetics》期刊第71页
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1.《ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251735.html
2.《Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes》
genetics_thesis/040004251736.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
3.《Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251737.html
4.《Genome-wide Significance Thresholds for Admixture Mapping Studies》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251738.html
5.《Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease》
genetics_thesis/040004251739.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
6.《Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251740.html
7.《Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251741.html
8.《GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251742.html
9.《Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251743.html
10.《Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251744.html
11.《De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251745.html
12.《Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251746.html
13.《De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251747.html
14.《Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251748.html
15.《Practical and Ethical Considerations of Using Personal DNA Tests with Middle-School-Aged Learners》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251749.html
16.《De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251750.html
17.《Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway》
genetics_thesis/040004251751.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
18.《Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251752.html
19.《De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251753.html
20.《Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251754.html
21.《Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting》
genetics_thesis/040004251755.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
22.《Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251756.html
23.《Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance》
genetics_thesis/040004251757.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
24.《Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness》
genetics_thesis/040004251758.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
25.《ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251759.html
26.《Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice》
genetics_thesis/040004251760.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
27.《Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251761.html
28.《TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways》
genetics_thesis/040004251762.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
29.《The Genetic Landscape of Diamond-Blackfan Anemia》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251763.html
30.《De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251764.html
31.《Prohibiting Genetic Discrimination to Promote Science, Health, and Fairness》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251765.html
32.《Integrating Genomics into Healthcare: A Global Responsibility》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251766.html
33.《Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251767.html
34.《GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251768.html
35.《Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251769.html
36.《Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251770.html
37.《Leveraging Polygenic Functional Enrichment to Improve GWAS Power》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251771.html
38.《Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project》
genetics_thesis/040004251772.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
39.《Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies》
genetics_thesis/040004251773.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
40.《Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits》
genetics_thesis/040004251774.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
41.《De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251775.html
42.《GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology》
genetics_thesis/040004251776.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-