Identification of a large set of rare complete human knockouts

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Items 101–200 of 222

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7. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy
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11. Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model
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13. Zebrafish Models of Rare Hereditary Pediatric Diseases
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14. GREGoR: accelerating genomics for rare diseases
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15. Beyond Mendelian Inheritance: Genetic Buffering and Phenotype Variability
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17. A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease
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18. A genome-wide scan for candidate lethal variants in Thoroughbred horses
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19. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia
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20. Mitigating False-Positive Associations in Rare Disease Gene Discovery
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21. Modernizing Human Cancer Risk Assessment of Therapeutics
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22. Maternal 5mCpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues
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23. Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy
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24. Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
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25. Genomics of rare diseases in the Greater Middle East
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26. Distributed phenomics with the un PAK project reveals the effects of mutations
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27. Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression
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28. Signatures of Relaxed Selection in the CYP8B1 Gene of Birds and Mammals
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29. Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth
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30. Rare and population-specific functional variation across pig lines
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31. Looking to the future of zebrafish as a model to understand the genetic basis of eye disease
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32. The role of NETosis in the pathogenesis of immunoinflammatory rheumatic diseases
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33. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
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34. A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
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35. The promise and reality of therapeutic discovery from large cohorts
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36. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes
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38. Mechanisms linking cytoplasmic decay of translation-defective mRNA to transcriptional adaptation
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46. Activation of an exonic splice‐donor site in exon 30 of CDK 5 RAP 2 in a patient with severe microcephaly and pigmentary abnormalities
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49. The Consequences of Abnormal Gene Dosage: Lessons from Chromosome 18
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50. Targeting the Main Sources of Reactive Oxygen Species Production: Possible Therapeutic Implications in Chronic Pain
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51. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
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52. Diabetes in Population Isolates: Lessons from Greenland
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53. Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene
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57. User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia
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58. Testing the role of predicted gene knockouts in human anthropometric trait variation
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60. There will always be variants of uncertain significance. Analysis of VUSs
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61. Dissecting pleiotropy to gain mechanistic insights into human disease
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62. Big data in der Diagnostik genetischer Schwerhörigkeit
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64. Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations
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66. Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
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70. Genetics of cardiovascular diseases: lessons learned from a decade of genomics research in Iceland
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71. Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives
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72. Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
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79. Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy
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82. Human genes lost and their functions found
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84. Applied cultural and social studies are needed for a sustainable reduction of genetic disease incidence
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87. Insights from human NF-κB knockouts
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88. Ancestry-specific high-risk gene variant profiling unmasks diabetes-associated genes
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92. Frontiers in population genomics: development, technological innovation, and interdisciplinary integration
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95. Developmental resilience of synaptome architecture
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96. Population-scale sequencing in Iceland
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97. Scaling up phenotyping studies
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98. Compensatory mechanisms render Tcf7l1a dispensable for eye formation despite its cell-autonomous requirement in eye field specification
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99. Molecular Genetics in the Next Generation Sequencing Era
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100. Rare and population-specific functional variation across pig lines
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