91.《POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism》
genetics_thesis/040004250225.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
92.《Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation》
genetics_thesis/040004250226.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
93.《A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250227.html
94.《A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250228.html
95.《De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250229.html
96.《Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250230.html
97.《TCTN3 Mutations Cause Mohr-Majewski Syndrome》
genetics_thesis/040004250231.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
98.《Rare De Novo Germline Copy-Number Variation in Testicular Cancer》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250232.html
99.《A Functional Copy-Number Variation in MAPKAPK2 Predicts Risk and Prognosis of Lung Cancer》
genetics_thesis/040004250233.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
100.《RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250234.html
101.《A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy》
genetics_thesis/040004250235.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
102.《ABCB6 Mutations Cause Ocular Coloboma》
genetics_thesis/040004250236.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
103.《A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome》
genetics_thesis/040004250237.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
104.《This Month in The Journal》
genetics_thesis/040004250238.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
105.《This Month in Genetics》
genetics_thesis/040004250239.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
106.《Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity》
genetics_thesis/040004250240.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
107.《Genome-wide Association Study Identifies Candidate Genes for Male Fertility Traits in Humans》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250241.html
108.《Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250242.html
109.《Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250243.html
110.《Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250244.html
111.《Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250245.html
112.《RAD21 Mutations Cause a Human Cohesinopathy》
genetics_thesis/040004250246.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
113.《Family-Based Association Studies for Next-Generation Sequencing》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250247.html
114.《Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits》
genetics_thesis/040004250248.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
115.《Duplication of GTF2I Results in Separation Anxiety in Mice and Humans》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250249.html
116.《The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome》
genetics_thesis/040004250250.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
117.《Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis》
genetics_thesis/040004250251.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
118.《GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250252.html
119.《Cantú Syndrome Is Caused by Mutations in ABCC9》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250253.html
120.《Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250254.html
121.《Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250255.html
122.《A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome》
genetics_thesis/040004250256.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
123.《Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250257.html
124.《Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height》
genetics_thesis/040004250258.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
125.《This Month in The Journal》
genetics_thesis/040004250259.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
126.《This Month in Genetics》
genetics_thesis/040004250260.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
127.《A General Framework for Two-Stage Analysis of Genome-wide Association Studies and Its Application to Case-Control Studies》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250261.html
128.《Population Demographic History Can Cause the Appearance of Recombination Hotspots》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250262.html
129.《PSORS2 Is Due to Mutations in CARD14》
genetics_thesis/040004250263.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
130.《Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis》
genetics_thesis/040004250264.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
131.《Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250265.html
132.《A Subset-Based Approach Improves Power and Interpretation for the Combined Analysis of Genetic Association Studies of Heterogeneous Traits》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250266.html
133.《Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria》
genetics_thesis/040004250267.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
134.《Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250268.html
135.《Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability》
genetics_thesis/040004250269.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
136.《Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250270.html
137.《A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function》