| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
2024 ASHG awards and addresses
|
|
|
|
112 |
3 |
p. 459-460
|
artikel
|
| 2 |
2024 ASHG Leadership Award
|
Morton, Cynthia C.
|
|
|
112 |
3 |
p. 478-480
|
artikel
|
| 3 |
2024 ASHG Lifetime Achievement Award
|
Pericak-Vance, Margaret A.
|
|
|
112 |
3 |
p. 470-472
|
artikel
|
| 4 |
2024 ASHG presidential address: Incomplete penetrance and variable expressivity: Old concepts, new urgency
|
Gelb, Bruce D.
|
|
|
112 |
3 |
p. 461-466
|
artikel
|
| 5 |
2024 ASHG Scientific Achievement Award
|
Ahituv, Nadav
|
|
|
112 |
3 |
p. 473-477
|
artikel
|
| 6 |
Contribution of autosomal rare and de novo variants to sex differences in autism
|
Koko, Mahmoud
|
|
|
112 |
3 |
p. 599-614
|
artikel
|
| 7 |
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data
|
Kars, Meltem Ece
|
|
|
112 |
3 |
p. 583-598
|
artikel
|
| 8 |
Distinct explanations underlie gene-environment interactions in the UK Biobank
|
Durvasula, Arun
|
|
|
112 |
3 |
p. 644-658
|
artikel
|
| 9 |
Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories
|
Hatchell, Kathryn E.
|
|
|
112 |
3 |
p. 481-491
|
artikel
|
| 10 |
Genetic association studies using disease liabilities from deep neural networks
|
Yang, Lu
|
|
|
112 |
3 |
p. 675-692
|
artikel
|
| 11 |
Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes
|
Dhindsa, Ryan S.
|
|
|
112 |
3 |
p. 693-708
|
artikel
|
| 12 |
Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila
|
Thorpe, Holly J.
|
|
|
112 |
3 |
p. 572-582
|
artikel
|
| 13 |
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study
|
Ugalde-Morales, Emilio
|
|
|
112 |
3 |
p. 630-643
|
artikel
|
| 14 |
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
|
Gardner, Jessica C.
|
|
|
112 |
3 |
p. 523-536
|
artikel
|
| 15 |
Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network
|
Ahern, Darcy T.
|
|
|
112 |
3 |
p. 615-629
|
artikel
|
| 16 |
2024 Lifetime Achievement Award: Biology unbalanced: Genes, gene dosage, and disease susceptibility
|
Lupski, James R.
|
|
|
112 |
3 |
p. 467-469
|
artikel
|
| 17 |
Misattributed paternity discovery: A critique of medical organizations’ recommendations
|
Wenzel, Richard
|
|
|
112 |
3 |
p. 492-507
|
artikel
|
| 18 |
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
|
Verbinnen, Iris
|
|
|
112 |
3 |
p. 554-571
|
artikel
|
| 19 |
reg-eQTL: Integrating transcription factor effects to unveil regulatory variants
|
Mudappathi, Rekha
|
|
|
112 |
3 |
p. 659-674
|
artikel
|
| 20 |
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
|
Wenger, Tara L.
|
|
|
112 |
3 |
p. 508-522
|
artikel
|
| 21 |
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
|
Zerafati-Jahromi, Gazelle
|
|
|
112 |
3 |
p. 537-553
|
artikel
|
| 22 |
Single-cell transcriptomics reveals inter-ethnic variation in immune response to Falciparum malaria
|
Shahin, Tala
|
|
|
112 |
3 |
p. 709-723
|
artikel
|
| 23 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
112 |
3 |
p. 457-458
|
artikel
|
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