208 results on '"Génin, Emmanuelle"'
Search Results
2. Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
3. How local reference panels improve imputation in French populations
4. Thirty Years of Research into Rendu-Osler-Weber Disease in France: Historical Demography, Population Genetics and Molecular Biology
5. The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor
6. CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia
7. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
8. Heritability: What's the point? What is it not for? A human genetics perspective
9. Expanding ACMG variant classification guidelines into a general framework
10. Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage
11. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
12. 49th European Mathematical Genetics Meeting (EMGM) 2021 : Paris, France, April 22 – 23, 2021
13. The genetic history of France
14. Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases
15. Missing heritability of complex diseases: case solved?
16. Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
17. Hypogonadotropic Hypogonadism Due to Loss of Function of the KiSS1-Derived Peptide Receptor GPR54
18. Rapid Progression to AIDS in HIV + Individuals with a Structural Variant of the Chemokine Receptor CX 3CR1
19. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
20. Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis
21. Highlighting the impact of cascade carrier testing in cystic fibrosis families
22. Relationship inference from the genetic data on parents or offspring: A comparative study
23. Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis
24. LXR antagonists induce ABCD2 expression
25. Revisiting the Polygenic Additive Liability Model through the Example of Diabetes Mellitus
26. Editor’s Note
27. The Missing Heritability Paradigm : A Dramatic Resurgence of the GIGO Syndrome in Genetics
28. 43rd European Mathematical Genetics Meeting (EMGM) 2015 : April 16-17, 2015, Brest, France
29. Integration of Omics Data in Genetic Epidemiology
30. Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes.
31. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group.
32. Inbreeding Coefficient Estimation with Dense SNP Data : Comparison of Strategies and Application to HapMap III
33. WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
34. Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy
35. Could Inbred Cases Identified in GWAS Data Succeed in Detecting Rare Recessive Variants Where Affected Sib-Pairs Have Failed?
36. Incidence of Abcd1 level on the induction of cell death and organelle dysfunctions triggered by very long chain fatty acids and TNF-α on oligodendrocytes and astrocytes
37. Trente ans d'étude de la maladie de Rendu-Osler en France: démographie historique, génétique des populations et biologie moléculaire
38. Selecting Predictive Markers for Pharmacogenetic Traits : Tagging vs. Data-Mining Approaches
39. Substrate Specificity Overlap and Interaction between Adrenoleukodystrophy Protein (ALDP/ABCD1) and Adrenoleukodystrophy-related Protein (ALDRP/ABCD2)
40. No replication of genetic association between candidate polymorphisms and Alzheimer's disease
41. Dealing with Missing Data in Family-Based Association Studies : A Multiple Imputation Approach
42. Evidence for a Locus in 1p31 Region Specifically Linked to the Co-Morbidity of Asthma and Allergic Rhinitis in the EGEA Study
43. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
44. Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
45. Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance.
46. Induction of the adrenoleukodystrophy-related gene ( ABCD2) by thyromimetics
47. Estimating the age of CFTR mutations predominantly found in Brittany (Western France)
48. How important are rare variants in common disease?
49. FSuite: exploiting inbreeding in dense SNP chip and exome data
50. Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
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