| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Advancing Diverse Participation in Research with Special Consideration for Vulnerable Populations
|
|
|
|
107 |
3 |
p. 379-380
|
artikel
|
| 2 |
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice
|
He, Xiaojin
|
|
|
107 |
3 |
p. 514-526
|
artikel
|
| 3 |
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality
|
Meisner, Allison
|
|
|
107 |
3 |
p. 418-431
|
artikel
|
| 4 |
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
|
Humbert, Jonathan
|
|
|
107 |
3 |
p. 564-574
|
artikel
|
| 5 |
Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-Seq Data
|
Demirdjian, Levon
|
|
|
107 |
3 |
p. 461-472
|
artikel
|
| 6 |
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
|
Motta, Marialetizia
|
|
|
107 |
3 |
p. 499-513
|
artikel
|
| 7 |
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
|
Breen, Michael S.
|
|
|
107 |
3 |
p. 555-563
|
artikel
|
| 8 |
Evolution of a Human-Specific Tandem Repeat Associated with ALS
|
Course, Meredith M.
|
|
|
107 |
3 |
p. 445-460
|
artikel
|
| 9 |
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk
|
Thomas, Minta
|
|
|
107 |
3 |
p. 432-444
|
artikel
|
| 10 |
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
|
Zhang, Ling
|
|
|
107 |
3 |
p. 579
|
artikel
|
| 11 |
High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation
|
Mulindwa, Julius
|
|
|
107 |
3 |
p. 473-486
|
artikel
|
| 12 |
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
|
Robinson, Peter N.
|
|
|
107 |
3 |
p. 403-417
|
artikel
|
| 13 |
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease
|
Vergnano, Marta
|
|
|
107 |
3 |
p. 539-543
|
artikel
|
| 14 |
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
|
Mechaussier, Sabrina
|
|
|
107 |
3 |
p. 580
|
artikel
|
| 15 |
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases
|
Haskamp, Stefan
|
|
|
107 |
3 |
p. 527-538
|
artikel
|
| 16 |
Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance
|
Boukas, Leandros
|
|
|
107 |
3 |
p. 487-498
|
artikel
|
| 17 |
Response to Holstege et al.
|
Cochran, J. Nicholas
|
|
|
107 |
3 |
p. 577-578
|
artikel
|
| 18 |
The Role of Age-Related Clonal Hematopoiesis in Genetic Sequencing Studies
|
Holstege, Henne
|
|
|
107 |
3 |
p. 575-576
|
artikel
|
| 19 |
The Role of Host Genetic Factors in Coronavirus Susceptibility: Review of Animal and Systematic Review of Human Literature
|
LoPresti, Marissa
|
|
|
107 |
3 |
p. 381-402
|
artikel
|
| 20 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
107 |
3 |
p. 377-378
|
artikel
|
| 21 |
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
|
Fliedner, Anna
|
|
|
107 |
3 |
p. 544-554
|
artikel
|
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