| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
2022 ASHG awards and addresses
|
|
|
|
110 |
3 |
p. 396-397
|
artikel
|
| 2 |
2022 ASHG presidential address—One human race: Billions of genomes
|
Rotimi, Charles N.
|
|
|
110 |
3 |
p. 398-401
|
artikel
|
| 3 |
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
|
Stark, Zornitza
|
|
|
110 |
3 |
p. 419-426
|
artikel
|
| 4 |
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
|
Serey-Gaut, Margaux
|
|
|
110 |
3 |
p. 499-515
|
artikel
|
| 5 |
Celebrating excellence, acknowledging past harms: Both are vital parts of ASHG’s continuing journey to advance human genetics
|
Korf, Bruce R.
|
|
|
110 |
3 |
p. 371-372
|
artikel
|
| 6 |
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing
|
Rehm, Heidi L.
|
|
|
110 |
3 |
p. 410-413
|
artikel
|
| 7 |
2022 Curt Stern Award introduction: Heidi Rehm
|
Whiffin, Nicola
|
|
|
110 |
3 |
p. 409
|
artikel
|
| 8 |
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models
|
Liu, Chunyu
|
|
|
110 |
3 |
p. 516-530
|
artikel
|
| 9 |
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia
|
Morini, Elisabetta
|
|
|
110 |
3 |
p. 531-547
|
artikel
|
| 10 |
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank
|
Nag, Abhishek
|
|
|
110 |
3 |
p. 487-498
|
artikel
|
| 11 |
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4
|
Strathmann, Eike A.
|
|
|
110 |
3 |
p. 442-459
|
artikel
|
| 12 |
Facing Our History—Building an Equitable Future
|
Jackson, Chazeman S.
|
|
|
110 |
3 |
p. 377-395
|
artikel
|
| 13 |
Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas
|
Välimäki, Niko
|
|
|
110 |
3 |
p. 460-474
|
artikel
|
| 14 |
On the report of the ASHG “Facing Our History—Building an Equitable Future” initiative
|
|
|
|
110 |
3 |
p. 375-376
|
artikel
|
| 15 |
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
|
Paul, Maimuna S.
|
|
|
110 |
3 |
p. 548
|
artikel
|
| 16 |
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding
|
Lee, Olivia W.
|
|
|
110 |
3 |
p. 427-441
|
artikel
|
| 17 |
The impact of coding germline variants on contralateral breast cancer risk and survival
|
Morra, Anna
|
|
|
110 |
3 |
p. 475-486
|
artikel
|
| 18 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
110 |
3 |
p. 373-374
|
artikel
|
| 19 |
2022 Victor A. McKusick Leadership Award
|
Nelson, David L.
|
|
|
110 |
3 |
p. 416-418
|
artikel
|
| 20 |
2022 Victor A. McKusick Leadership Award introduction: David Nelson
|
Cullinan, Sara B.
|
|
|
110 |
3 |
p. 414-415
|
artikel
|
| 21 |
2022 William Allan Award
|
Donnelly, Peter
|
|
|
110 |
3 |
p. 404-408
|
artikel
|
| 22 |
2022 William Allan Award introduction: Peter Donnelly
|
Leslie, Stephen
|
|
|
110 |
3 |
p. 402-403
|
artikel
|
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