| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits
|
Kraja, Aldi T.
|
|
2019
|
104 |
1 |
p. 112-138
|
artikel
|
| 2 |
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
|
Reynhout, Sara
|
|
2019
|
104 |
1 |
p. 139-156
|
artikel
|
| 3 |
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
|
Machol, Keren
|
|
2019
|
104 |
1 |
p. 164-178
|
artikel
|
| 4 |
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
|
LaCroix, Amy J.
|
|
2019
|
104 |
1 |
p. 35-44
|
artikel
|
| 5 |
GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology
|
Bovijn, Jonas
|
|
2019
|
104 |
1 |
p. 157-163
|
artikel
|
| 6 |
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
|
Edvardson, Simon
|
|
2019
|
104 |
1 |
p. 179-185
|
artikel
|
| 7 |
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals
|
Verma, Anurag
|
|
2019
|
104 |
1 |
p. 55-64
|
artikel
|
| 8 |
In Remembrance of: Luigi Luca Cavalli-Sforza (1922–2018)
|
Kidd, Kenneth K.
|
|
2019
|
104 |
1 |
p. 11-12
|
artikel
|
| 9 |
Integrating Genomics into Healthcare: A Global Responsibility
|
Stark, Zornitza
|
|
2019
|
104 |
1 |
p. 13-20
|
artikel
|
| 10 |
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
|
Ceyhan-Birsoy, Ozge
|
|
2019
|
104 |
1 |
p. 76-93
|
artikel
|
| 11 |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power
|
Kichaev, Gleb
|
|
2019
|
104 |
1 |
p. 65-75
|
artikel
|
| 12 |
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
|
Khan, Tahir N.
|
|
2019
|
104 |
1 |
p. 94-111
|
artikel
|
| 13 |
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
|
Choi, Yo Jun
|
|
2019
|
104 |
1 |
p. 45-54
|
artikel
|
| 14 |
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
|
Mavaddat, Nasim
|
|
2019
|
104 |
1 |
p. 21-34
|
artikel
|
| 15 |
Prohibiting Genetic Discrimination to Promote Science, Health, and Fairness
|
|
|
2019
|
104 |
1 |
p. 6-7
|
artikel
|
| 16 |
Raymond Leslie White (1943–2018)
|
Ptáček, Louis J.
|
|
2019
|
104 |
1 |
p. 8-10
|
artikel
|
| 17 |
Response to Whiffin et al.
|
Shah, Naisha
|
|
2019
|
104 |
1 |
p. 186
|
artikel
|
| 18 |
The American Society of Human Genetics at 70: Looking to the Future of Scientific Publishing and The American Journal of Human Genetics
|
Korf, Bruce R.
|
|
2019
|
104 |
1 |
p. 1-3
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2019
|
104 |
1 |
p. 4-5
|
artikel
|
| 20 |
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
|
Whiffin, Nicola
|
|
2019
|
104 |
1 |
p. 187-190
|
artikel
|
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