《AmericanJournalofHumanGenetics》期刊第70页198条数据 

88.《PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251622.html

89.《Identification of Misclassified ClinVar Variants via Disease Population Prevalence》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251623.html

90.《A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression》

genetics_thesis/040004251624.html

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

91.《Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251625.html

92.《Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251626.html

93.《Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project》

genetics_thesis/040004251627.html

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

94.《Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy》

genetics_thesis/040004251628.html

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

95.《Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251629.html

96.《Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251630.html

97.《LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections》

genetics_thesis/040004251631.html

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

98.《Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa》

genetics_thesis/040004251632.html

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

99.《Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome》

genetics_thesis/040004251633.html

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

100.《2017 ASHG Awards and Addresses》

genetics_thesis/040004251634.html

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

101.《2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way》

genetics_thesis/040004251635.html

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

102.《2017 William Allan Award Introduction: Kári Stefansson》

genetics_thesis/040004251636.html

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

103.《2017 William Allan Award》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251637.html

104.《2017 Curt Stern Award Introduction: Nico Katsanis》

genetics_thesis/040004251638.html

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

105.《2017 Curt Stern Award: The Complexity of Simple Genetics》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251639.html

106.《2017 Victor A. McKusick Leadership Award Introduction: Arthur L. Beaudet》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251640.html

107.《2017 Victor A. McKusick Leadership Award》

genetics_thesis/040004251641.html

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

108.《Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251642.html

109.《A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure》

genetics_thesis/040004251643.html

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

110.《Inherited DNA-Repair Defects in Colorectal Cancer》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251644.html

111.《Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures》

genetics_thesis/040004251645.html

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

112.《Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease》

genetics_thesis/040004251646.html

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

113.《Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251647.html

114.《NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy》

genetics_thesis/040004251648.html

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

115.《Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251649.html

116.《Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia》

genetics_thesis/040004251650.html

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

117.《Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251651.html

118.《Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder》

genetics_thesis/040004251652.html

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

119.《Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251653.html

120.《Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251654.html

121.《Evolutionary Rewiring of Human Regulatory Networks by Waves of Genome Expansion》

genetics_thesis/040004251655.html

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

122.《Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251656.html

123.《Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches》

genetics_thesis/040004251657.html

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

124.《Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251658.html

125.《Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation》

genetics_thesis/040004251659.html

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

126.《OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251660.html

127.《Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome》

genetics_thesis/040004251661.html

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

128.《Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251663.html

129.《Bible Says Israelites Didn't Exterminate Sidonians》

genetics_thesis/040004251664.html

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

130.《Response to Giem》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251665.html

131.《HIPAA’s Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251666.html

132.《The Expanding Landscape of Alternative Splicing Variation in Human Populations》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251667.html