《AmericanJournalofHumanGenetics》期刊第69页196条数据 

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88.《Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome》

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89.《Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251425.html

90.《De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder》

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91.《2016 ASHG Awards and Addresses》

genetics_thesis/040004251427.html

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92.《2016 Presidential Address: Let’s Make Human Genetics Great (Again): The Importance of Beauty in Science》

genetics_thesis/040004251428.html

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93.《2016 William Allan Award Introduction: James Gusella》

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94.《2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling》

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95.《2016 Curt Stern Award Introduction: Brendan Lee》

genetics_thesis/040004251431.html

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96.《2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy》

genetics_thesis/040004251432.html

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97.《2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler》

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98.《2016 Victor A. McKusick Leadership Award》

genetics_thesis/040004251434.html

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99.《Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251435.html

100.《Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US》

genetics_thesis/040004251436.html

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101.《Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251437.html

102.《Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251438.html

103.《Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251439.html

104.《Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits》

genetics_thesis/040004251440.html

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105.《CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy》

genetics_thesis/040004251441.html

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106.《A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251442.html

107.《Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251443.html

108.《Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251445.html

109.《Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly》

genetics_thesis/040004251446.html

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110.《Thyroglobulin in Metastatic Thyroid Cancer: Culprit or Red Herring?》

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111.《Response to Yehia et al.》

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112.《The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease》

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113.《The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251450.html

114.《Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits》

genetics_thesis/040004251451.html

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

115.《Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251452.html

116.《The Genetic Architecture of Gene Expression in Peripheral Blood》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251453.html

117.《Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251455.html

118.《InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251456.html

119.《Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome》

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120.《Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis》

genetics_thesis/040004251458.html

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121.《Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach》

genetics_thesis/040004251459.html

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

122.《Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251460.html

123.《Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration》

genetics_thesis/040004251461.html

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

124.《A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251462.html

125.《De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251463.html

126.《Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23》

genetics_thesis/040004251464.html

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

127.《The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251465.html

128.《The Genetic Architecture of Gene Expression in Peripheral Blood》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251466.html

129.《Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251467.html

130.《Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251468.html

131.《Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease》

genetics_thesis/040004251469.html

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

132.《Mixed Model Association with Family-Biased Case-Control Ascertainment》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251470.html

133.《Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors》

genetics_thesis/040004251471.html

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