| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA
|
Li, Yige
|
|
|
111 |
3 |
p. 562-583
|
artikel
|
| 2 |
2023 ASHG awards and addresses
|
|
|
|
111 |
3 |
p. 405-406
|
artikel
|
| 3 |
2023 ASHG Leadership Award
|
Cox, Nancy J.
|
|
|
111 |
3 |
p. 429-432
|
artikel
|
| 4 |
2023 ASHG Leadership Award: Nancy Cox
|
Boehnke, Michael
|
|
|
111 |
3 |
p. 428
|
artikel
|
| 5 |
2023 ASHG Lifetime Achievement Award: “If you want to go fast, go alone; if you want to go far, go together”
|
Risch, Neil
|
|
|
111 |
3 |
p. 412-423
|
artikel
|
| 6 |
2023 ASHG Lifetime Achievement Award: Neil Risch
|
Klein, Ophir
|
|
|
111 |
3 |
p. 410-411
|
artikel
|
| 7 |
2023 ASHG presidential address—Reflecting on our 75 years: Acknowledging our past, embracing our present, and dreaming about our future
|
Lee, Brendan
|
|
|
111 |
3 |
p. 407-409
|
artikel
|
| 8 |
2023 ASHG Scientific Achievement Award
|
Przeworski, Molly
|
|
|
111 |
3 |
p. 425-427
|
artikel
|
| 9 |
2023 ASHG Scientific Achievement Award: Molly Przeworski
|
Shendure, Jay
|
|
|
111 |
3 |
p. 424
|
artikel
|
| 10 |
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
|
Brugger, Melanie
|
|
|
111 |
3 |
p. 594-613
|
artikel
|
| 11 |
De novo variants in DENND5B cause a neurodevelopmental disorder
|
Scala, Marcello
|
|
|
111 |
3 |
p. 529-543
|
artikel
|
| 12 |
Epigenome-wide association study of total nicotine equivalents in multiethnic current smokers from three prospective cohorts
|
Huang, Brian Z.
|
|
|
111 |
3 |
p. 456-472
|
artikel
|
| 13 |
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain
|
Hu, Chunling
|
|
|
111 |
3 |
p. 584-593
|
artikel
|
| 14 |
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
|
Pérez Baca, María del Rocío
|
|
|
111 |
3 |
p. 509-528
|
artikel
|
| 15 |
Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencing
|
Rodriguez, Isabel
|
|
|
111 |
3 |
p. 544-561
|
artikel
|
| 16 |
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
|
Balachandran, Saranya
|
|
|
111 |
3 |
p. 618
|
artikel
|
| 17 |
The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function
|
Zhang, Jianhua
|
|
|
111 |
3 |
p. 473-486
|
artikel
|
| 18 |
The cells of the sensory epithelium, and not the stria vascularis, are the main cochlear cells related to the genetic pathogenesis of age-related hearing loss
|
Eshel, Mai
|
|
|
111 |
3 |
p. 614-617
|
artikel
|
| 19 |
This Month in The Journal
|
Barnes, Alyson B.
|
|
|
111 |
3 |
p. 403-404
|
artikel
|
| 20 |
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
|
Tai, Derek J.C.
|
|
|
111 |
3 |
p. 619
|
artikel
|
| 21 |
Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits
|
Wittich, Henry
|
|
|
111 |
3 |
p. 445-455
|
artikel
|
| 22 |
Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants
|
Allen, Caitlin G.
|
|
|
111 |
3 |
p. 433-444
|
artikel
|
| 23 |
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
|
Shepherdson, James L.
|
|
|
111 |
3 |
p. 487-508
|
artikel
|
Tijdschrift beschrijving