| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Bayesian approach to Mendelian randomization using summary statistics in the univariable and multivariable settings with correlated pleiotropy
|
Grant, Andrew J.
|
|
|
111 |
1 |
p. 165-180
|
artikel
|
| 2 |
An interactive atlas of three-dimensional syndromic facial morphology
|
Aponte, J. David
|
|
|
111 |
1 |
p. 39-47
|
artikel
|
| 3 |
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
|
Harris, Erica L.
|
|
|
111 |
1 |
p. 119-132
|
artikel
|
| 4 |
A statistical method for image-mediated association studies discovers genes and pathways associated with four brain disorders
|
He, Jingni
|
|
|
111 |
1 |
p. 48-69
|
artikel
|
| 5 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
|
Paul, Maimuna S.
|
|
|
111 |
1 |
p. 96-118
|
artikel
|
| 6 |
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
|
Salpietro, Vincenzo
|
|
|
111 |
1 |
p. 200-210
|
artikel
|
| 7 |
Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine
|
Wiley, Laura K.
|
|
|
111 |
1 |
p. 11-23
|
artikel
|
| 8 |
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
|
Biesecker, Leslie G.
|
|
|
111 |
1 |
p. 24-38
|
artikel
|
| 9 |
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease
|
Wallenius, Joel
|
|
|
111 |
1 |
p. 82-95
|
artikel
|
| 10 |
Genetic determinants of IgG antibody response to COVID-19 vaccination
|
Bian, Shengzhe
|
|
|
111 |
1 |
p. 181-199
|
artikel
|
| 11 |
Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects
|
Kasela, Silva
|
|
|
111 |
1 |
p. 133-149
|
artikel
|
| 12 |
omicSynth: An open multi-omic community resource for identifying druggable targets across neurodegenerative diseases
|
Alvarado, Chelsea X.
|
|
|
111 |
1 |
p. 150-164
|
artikel
|
| 13 |
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases
|
Torene, Rebecca I.
|
|
|
111 |
1 |
p. 70-81
|
artikel
|
| 14 |
This Month in The Journal
|
Barnes, Alyson B.
|
|
|
111 |
1 |
p. 3-4
|
artikel
|
| 15 |
Will variants of uncertain significance still exist in 2030?
|
Fowler, Douglas M.
|
|
|
111 |
1 |
p. 5-10
|
artikel
|
| 16 |
75 years of The American Journal of Human Genetics
|
Korf, Bruce R.
|
|
|
111 |
1 |
p. 1-2
|
artikel
|
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