| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism
|
Masson, Emmanuelle
|
|
|
111 |
10 |
p. 2176-2189
|
artikel
|
| 2 |
ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification
|
Barnada, Samantha M.
|
|
|
111 |
10 |
p. 2232-2252
|
artikel
|
| 3 |
Assessing the utility of large language models for phenotype-driven gene prioritization in the diagnosis of rare genetic disease
|
Kim, Junyoung
|
|
|
111 |
10 |
p. 2190-2202
|
artikel
|
| 4 |
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
|
Iglesias-Romero, Ana Belén
|
|
|
111 |
10 |
p. 2299-2306
|
artikel
|
| 5 |
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
|
Erjavec, Elisa
|
|
|
111 |
10 |
p. 2265-2282
|
artikel
|
| 6 |
Genes with differential expression across ancestries are enriched in ancestry-specific disease effects likely due to gene-by-environment interactions
|
Wang, Juehan
|
|
|
111 |
10 |
p. 2117-2128
|
artikel
|
| 7 |
Genetic modifiers of body mass index in individuals with cystic fibrosis
|
Ling, Hua
|
|
|
111 |
10 |
p. 2203-2218
|
artikel
|
| 8 |
Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer
|
Liu, Yuxi
|
|
|
111 |
10 |
p. 2150-2163
|
artikel
|
| 9 |
Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness
|
Jiang, Luoying
|
|
|
111 |
10 |
p. 2253-2264
|
artikel
|
| 10 |
International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review
|
Majeed, Safa
|
|
|
111 |
10 |
p. 2079-2093
|
artikel
|
| 11 |
Joint testing of rare variant burden scores using non-negative least squares
|
Ziyatdinov, Andrey
|
|
|
111 |
10 |
p. 2139-2149
|
artikel
|
| 12 |
Recognizing trainees: The AJHG Award for Outstanding Trainee Publication
|
Korf, Bruce R.
|
|
|
111 |
10 |
p. 2071
|
artikel
|
| 13 |
Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies
|
Shyr, Derek
|
|
|
111 |
10 |
p. 2129-2138
|
artikel
|
| 14 |
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis
|
DeBose-Scarlett, Evon
|
|
|
111 |
10 |
p. 2283-2298
|
artikel
|
| 15 |
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants
|
Sullivan, Patricia J.
|
|
|
111 |
10 |
p. 2164-2175
|
artikel
|
| 16 |
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants
|
Smith, Hadley Stevens
|
|
|
111 |
10 |
p. 2094-2106
|
artikel
|
| 17 |
The methodological and ethical concerns of genetic studies of same-sex sexual behavior
|
Ventresca, Christa
|
|
|
111 |
10 |
p. 2107-2116
|
artikel
|
| 18 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
111 |
10 |
p. 2072-2073
|
artikel
|
| 19 |
Toward building a comprehensive human pan-genome: The SEN-GENOME project
|
Gaye, Amadou
|
|
|
111 |
10 |
p. 2074-2078
|
artikel
|
| 20 |
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications
|
Mansoorshahi, Sara
|
|
|
111 |
10 |
p. 2219-2231
|
artikel
|
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