《AmericanJournalofHumanGenetics》期刊第56页198条数据 

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46.《Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia》

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47.《Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2》

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48.《A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease》

genetics_thesis/040004248784.html

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49.《Epimerase-Deficiency Galactosemia Is Not a Binary Condition》

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50.《Functional Variant in a Bitter-Taste Receptor (hTAS2R16) Influences Risk of Alcohol Dependence》

genetics_thesis/040004248786.html

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51.《Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis》

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52.《Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier?》

genetics_thesis/040004248788.html

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53.《Variants Associated with Common Disease Are Not Unusually Differentiated in Frequency across Populations》

genetics_thesis/040004248789.html

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54.《Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness》

genetics_thesis/040004248790.html

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55.《Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss》

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56.《Screening for Recently Selected Alleles by Analysis of Human Haplotype Similarity》

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57.《A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)》

genetics_thesis/040004248793.html

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58.《Transactivation Function of an ～800-bp Evolutionarily Conserved Sequence at the SHOX 3′ Region: Implication for the Downstream Enhancer》

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59.《A Genetic and Cultural Odyssey: The Life and Work of L. Luca Cavalli-Sforza By L. Stone and P. F. Lurquin, Reviewed by Olson》

genetics_thesis/040004248795.html

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60.《Society News》

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61.《Bayesian Haplotype Inference for Multiple Linked Single-Nucleotide Polymorphisms》

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62.《This Month in the Journal》

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63.《A Genomewide Association Study of Skin Pigmentation in a South Asian Population》

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64.《Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy》

genetics_thesis/040004248800.html

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65.《Identification of the Transcriptional Targets of FOXP2, a Gene Linked to Speech and Language, in Developing Human Brain》

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66.《So Many Correlated Tests, So Little Time! Rapid Adjustment of P Values for Multiple Correlated Tests》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248802.html

67.《Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248803.html

68.《RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies》

genetics_thesis/040004248804.html

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69.《Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination》

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70.《The Structure of Common Genetic Variation in United States Populations》

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71.《High-Throughput Analysis of Promoter Occupancy Reveals Direct Neural Targets of FOXP2, a Gene Mutated in Speech and Language Disorders》

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72.《Multifactor Dimensionality Reduction–Phenomics: A Novel Method to Capture Genetic Heterogeneity with Use of Phenotypic Variables》

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73.《Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA》

genetics_thesis/040004248809.html

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74.《A Functional Polymorphism in COL11A1, Which Encodes the α1 Chain of Type XI Collagen, Is Associated with Susceptibility to Lumbar Disc Herniation》

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75.《Pathway-Based Approaches for Analysis of Genomewide Association Studies》

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76.《Novel Association in Chromosome 4q27 Region with Rheumatoid Arthritis and Confirmation of Type 1 Diabetes Point to a General Risk Locus for Autoimmune Diseases》

genetics_thesis/040004248812.html

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77.《Contribution of SHANK3 Mutations to Autism Spectrum Disorder》

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78.《Common Single-Nucleotide Polymorphisms Act in Concert to Affect Plasma Levels of High-Density Lipoprotein Cholesterol》

genetics_thesis/040004248814.html

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79.《DNA Methylation Signatures within the Human Brain》

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80.《Announcements》

genetics_thesis/040004248816.html

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81.《This Month in the Journal》

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82.《A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248818.html

83.《Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy》

genetics_thesis/040004248819.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

84.《A Randomization Test for Controlling Population Stratification in Whole-Genome Association Studies》

genetics_thesis/040004248820.html

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85.《Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248821.html

86.《Family-Based Association Tests for Genomewide Association Scans》

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87.《Haplotype-Based Association Analysis via Variance-Components Score Test》

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88.《Information-Theoretic Metrics for Visualizing Gene-Environment Interactions》

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89.《A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy》

genetics_thesis/040004248825.html

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