《AmericanJournalofHumanGenetics》期刊第60页200条数据 

45.《A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis》

genetics_thesis/040004249579.html

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

46.《A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249580.html

47.《Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly》

genetics_thesis/040004249581.html

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

48.《Tail Strength to Combine Two p Values: Their Correlation Cannot Be Ignored》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249582.html

49.《Is the Tail-Strength Measure More Powerful in Tests of Genetic Association?》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249583.html

50.《Response to Zang et al. and Han et al.》

genetics_thesis/040004249584.html

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

51.《TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249585.html

52.《A Testing Framework for Identifying Susceptibility Genes in the Presence of Epistasis》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249586.html

53.《This Month in The Journal》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249587.html

54.《This Month in Genetics》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249588.html

55.《Association of Genetic Variants at 3q22 with Nephropathy in Patients with Type 1 Diabetes Mellitus》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249589.html

56.《Mutations of the SYCP3 Gene in Women with Recurrent Pregnancy Loss》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249590.html

57.《Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249591.html

58.《Genome-wide Association Study Implicates a Chromosome 12 Risk Locus for Late-Onset Alzheimer Disease》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249592.html

59.《Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249593.html

60.《Genetic Defects in Surfactant Protein A2 Are Associated with Pulmonary Fibrosis and Lung Cancer》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249594.html

61.《Variants in TF and HFE Explain ～40% of Genetic Variation in Serum-Transferrin Levels》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249595.html

62.《A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume》

genetics_thesis/040004249596.html

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

63.《A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249597.html

64.《Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249598.html

65.《Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249599.html

66.《Distribution of the Alcohol Dehydrogenase ADH1B?47His Allele in Eurasia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249600.html

67.《Low Allele Frequency of ADH1B?47His in West China and Different ADH1B Haplotypes in Western and Eastern Asia》

genetics_thesis/040004249601.html

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

68.《Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249602.html

69.《This Month in The Journal》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249603.html

70.《This Month in Genetics》

genetics_thesis/040004249604.html

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

71.《The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine》

genetics_thesis/040004249605.html

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

72.《Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249606.html

73.《Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249607.html

74.《Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling》

genetics_thesis/040004249608.html

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

75.《Gene Expression in Skin and Lymphoblastoid Cells: Refined Statistical Method Reveals Extensive Overlap in cis-eQTL Signals》

genetics_thesis/040004249609.html

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

76.《Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing》

genetics_thesis/040004249610.html

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

77.《Somatic Mutations throughout the Entire Mitochondrial Genome Are Associated with Elevated PSA Levels in Prostate Cancer Patients》

genetics_thesis/040004249611.html

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

78.《Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249612.html

79.《Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249613.html

80.《Population Differences in the Rate of Proliferation of International HapMap Cell Lines》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249614.html

81.《Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy》

genetics_thesis/040004249615.html

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

82.《Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249616.html

83.《Estimators of the Human Effective Sex Ratio Detect Sex Biases on Different Timescales》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249617.html

84.《Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249618.html

85.《PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249619.html

86.《Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249620.html

87.《A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts》

genetics_thesis/040004249621.html

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

88.《Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249622.html