《AmericanJournalofHumanGenetics》期刊第70页198条数据 

《American Journal of Human Genetics》期刊第70页

198条数据

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

1.《A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis》

genetics_thesis/040004251535.html

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

2.《The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251536.html

3.《A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251537.html

4.《A One-Penny Imputed Genome from Next-Generation Reference Panels》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251538.html

5.《Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251539.html

6.《Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot》

genetics_thesis/040004251540.html

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

7.《Fetal—Not Maternal—APOL1 Genotype Associated with Risk for Preeclampsia in Those with African Ancestry》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251541.html

8.《Genetic Regulatory Mechanisms of Smooth Muscle Cells Map to Coronary Artery Disease Risk Loci》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251542.html

9.《PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases》

genetics_thesis/040004251543.html

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

10.《A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251544.html

11.《Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251545.html

12.《Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia》

genetics_thesis/040004251546.html

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

13.《Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251547.html

14.《De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251548.html

15.《De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251549.html

16.《Mutations in TOP3A Cause a Bloom Syndrome-like Disorder》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251550.html

17.《IRF2BPL Is Associated with Neurological Phenotypes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251551.html

18.《Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251552.html

19.《Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251553.html

20.《Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251554.html

21.《Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251555.html

22.《A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer》

genetics_thesis/040004251556.html

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

23.《Mutations in TOP3A Cause a Bloom Syndrome-like Disorder》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251557.html

24.《An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251558.html

25.《IRF2BPL Is Associated with Neurological Phenotypes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251559.html

26.《Selection Has Countered High Mutability to Preserve the Ancestral Copy Number of Y Chromosome Amplicons in Diverse Human Lineages》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251560.html

27.《Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251561.html

28.《Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities》

genetics_thesis/040004251562.html

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

29.《Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome》

genetics_thesis/040004251563.html

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

30.《De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder》

genetics_thesis/040004251564.html

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

31.《Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes》

genetics_thesis/040004251565.html

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

32.《Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251566.html

33.《Inferring Identical-by-Descent Sharing of Sample Ancestors Promotes High-Resolution Relative Detection》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251567.html

34.《Natural Selection Has Differentiated the Progesterone Receptor among Human Populations》

genetics_thesis/040004251568.html

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

35.《Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes》

genetics_thesis/040004251569.html

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

36.《MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse》

genetics_thesis/040004251570.html

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

37.《Estimating SNP-Based Heritability and Genetic Correlation in Case-Control Studies Directly and with Summary Statistics》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251571.html

38.《Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function》

genetics_thesis/040004251572.html

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

39.《Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies》

genetics_thesis/040004251573.html

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

40.《Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis》

genetics_thesis/040004251574.html

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

41.《Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004251575.html

42.《Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant “Risk Variants”》

genetics_thesis/040004251576.html

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

43.《De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures》