《AmericanJournalofHumanGenetics》期刊第68页196条数据 

178.《MEGSA: A Powerful and Flexible Framework for Analyzing Mutual Exclusivity of Tumor Mutations》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251317.html

179.《Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251318.html

180.《Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251319.html

181.《Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251320.html

182.《Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251321.html

183.《A Locus at 5q33.3 Confers Resistance to Tuberculosis in Highly Susceptible Individuals》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251322.html

184.《A Statistical Approach for Testing Cross-Phenotype Effects of Rare Variants》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251323.html

185.《Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders》

genetics_thesis/040004251324.html

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

186.《DVL3 Alleles Resulting in a ?1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251325.html

187.《Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251326.html

188.《Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251327.html

189.《Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251328.html

190.《PRICKLE2 Mutations Might Not Be Involved in Epilepsy》

genetics_thesis/040004251329.html

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

191.《Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine》

genetics_thesis/040004251330.html

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

192.《Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251331.html

193.《Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251332.html

194.《Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251333.html

195.《Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251334.html

196.《De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251335.html