《AmericanJournalofHumanGenetics》期刊第68页196条数据 

《American Journal of Human Genetics》期刊第68页

196条数据

https://www.zhangqiaokeyan.com/american-journal-human-genetics

1.《Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling》

genetics_thesis/040004251135.html

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

2.《Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251136.html

3.《Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis》

genetics_thesis/040004251137.html

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

4.《Constrained Score Statistics Identify Genetic Variants Interacting with Multiple Risk Factors in Barrett’s Esophagus》

genetics_thesis/040004251138.html

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

5.《Defining KIR and HLA Class I Genotypes at Highest Resolution via High-Throughput Sequencing》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251140.html

6.《Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia》

genetics_thesis/040004251141.html

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

7.《Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251142.html

8.《Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251143.html

9.《Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy》

genetics_thesis/040004251144.html

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

10.《Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions》

genetics_thesis/040004251145.html

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

11.《Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251146.html

12.《GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation》

genetics_thesis/040004251147.html

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

13.《ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects》

genetics_thesis/040004251148.html

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

14.《TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251149.html

15.《Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251150.html

16.《Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251151.html

17.《Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251152.html

18.《Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly》

genetics_thesis/040004251153.html

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

19.《Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251154.html

20.《Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man》

genetics_thesis/040004251155.html

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

21.《Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251156.html

22.《Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251157.html

23.《Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251158.html

24.《Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin》

genetics_thesis/040004251159.html

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

25.《Transethnic Genetic-Correlation Estimates from Summary Statistics》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251160.html

26.《Imputing Phenotypes for Genome-wide Association Studies》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251161.html

27.《Boosting the Power of the Sequence Kernel Association Test by Properly Estimating Its Null Distribution》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251162.html

28.《DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation》

genetics_thesis/040004251163.html

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

29.《Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis》

genetics_thesis/040004251164.html

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

30.《Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251165.html

31.《PADRE: Pedigree-Aware Distant-Relationship Estimation》

genetics_thesis/040004251166.html

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

32.《Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251167.html

33.《Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251168.html

34.《Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251169.html

35.《Mutations in WNT10B Are Identified in Individuals with Oligodontia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251170.html

36.《Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251171.html

37.《Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251172.html

38.《Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype》

genetics_thesis/040004251173.html

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

39.《Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251174.html

40.《Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine》

genetics_thesis/040004251176.html

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

41.《Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies》

genetics_thesis/040004251177.html

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

42.《Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251178.html