| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Addressing the challenges of polygenic scores in human genetic research
|
Novembre, John
|
|
|
|
12 |
p. 2095-2100
|
artikel
|
| 2 |
A minimal role for synonymous variation in human disease
|
Dhindsa, Ryan S.
|
|
|
|
12 |
p. 2105-2109
|
artikel
|
| 3 |
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
|
Parthasarathy, Shridhar
|
|
|
|
12 |
p. 2253-2269
|
artikel
|
| 4 |
A scoping review of guidelines for the use of race, ethnicity, and ancestry reveals widespread consensus but also points of ongoing disagreement
|
Mauro, Madelyn
|
|
|
|
12 |
p. 2110-2125
|
artikel
|
| 5 |
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
|
Smolen, Corrine
|
|
|
|
12 |
p. 2015-2028
|
artikel
|
| 6 |
Bayesian model comparison for rare-variant association studies
|
Venkataraman, Guhan Ram
|
|
|
|
12 |
p. 2354-2367
|
artikel
|
| 7 |
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
|
Engal, Eden
|
|
|
|
12 |
p. 2112-2119
|
artikel
|
| 8 |
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
|
Ghosh, Shereen G.
|
|
|
|
12 |
p. 2385
|
artikel
|
| 9 |
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
|
Pottie, Lore
|
|
|
|
12 |
p. 2386-2388
|
artikel
|
| 10 |
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
|
Yap, Zheng Yie
|
|
|
|
12 |
p. 2368-2384
|
artikel
|
| 11 |
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
|
Pejaver, Vikas
|
|
|
|
12 |
p. 2163-2177
|
artikel
|
| 12 |
CHARR efficiently estimates contamination from DNA sequencing data
|
Lu, Wenhan
|
|
|
|
12 |
p. 2068-2076
|
artikel
|
| 13 |
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
|
Fayer, Shawn
|
|
|
|
12 |
p. 2248-2258
|
artikel
|
| 14 |
Consequences of chromosome gain: A new view on trisomy syndromes
|
Krivega, Maria
|
|
|
|
12 |
p. 2126-2140
|
artikel
|
| 15 |
Describing human populations: An evolving picture in human genetics research
|
Korf, Bruce R.
|
|
|
|
12 |
p. 2207
|
artikel
|
| 16 |
Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need
|
Brooks, Dominique L.
|
|
|
|
12 |
p. 2003-2014
|
artikel
|
| 17 |
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
|
Adamo, Christin S.
|
|
|
|
12 |
p. 2230-2252
|
artikel
|
| 18 |
Estimating the genome-wide mutation rate from thousands of unrelated individuals
|
Tian, Xiaowen
|
|
|
|
12 |
p. 2178-2184
|
artikel
|
| 19 |
Evolving use of ancestry, ethnicity, and race in genetics research—A survey spanning seven decades
|
Byeon, Yen Ji Julia
|
|
|
|
12 |
p. 2215-2223
|
artikel
|
| 20 |
Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor
|
Derrien, Anne-Céline
|
|
|
|
12 |
p. 2196-2209
|
artikel
|
| 21 |
Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics
|
Jia, Guochong
|
|
|
|
12 |
p. 2185-2195
|
artikel
|
| 22 |
Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics
|
He, Zihuai
|
|
|
|
12 |
p. 2336-2353
|
artikel
|
| 23 |
Genomic Medicine Year in Review: 2022
|
Manolio, Teri A.
|
|
|
|
12 |
p. 2101-2104
|
artikel
|
| 24 |
Genomic medicine year in review: 2021
|
Manolio, Teri A.
|
|
|
|
12 |
p. 2210-2214
|
artikel
|
| 25 |
Genomic medicine year in review: 2023
|
Manolio, Teri A.
|
|
|
|
12 |
p. 1992-1995
|
artikel
|
| 26 |
H. Eldon Sutton, PhD (1927–2023): A long and full life
|
DuPont, Barbara R.
|
|
|
|
12 |
p. 1989-1991
|
artikel
|
| 27 |
H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility
|
Giambartolomei, Claudia
|
|
|
|
12 |
p. 2284-2300
|
artikel
|
| 28 |
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants
|
Sevim Bayrak, Cigdem
|
|
|
|
12 |
p. 2301-2318
|
artikel
|
| 29 |
Identifying risk variants for embryo aneuploidy using ultra-low coverage whole-genome sequencing from preimplantation genetic testing
|
Sun, Siqi
|
|
|
|
12 |
p. 2092-2102
|
artikel
|
| 30 |
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index
|
Scheller, Ines F.
|
|
|
|
12 |
p. 2056-2067
|
artikel
|
| 31 |
Improved pathogenicity prediction for rare human missense variants
|
Wu, Yingzhou
|
|
|
|
12 |
p. 2389
|
artikel
|
| 32 |
Increasing diversity of functional genetics studies to advance biological discovery and human health
|
George, Sophia H.L.
|
|
|
|
12 |
p. 1996-2002
|
artikel
|
| 33 |
Inferring disease architecture and predictive ability with LDpred2-auto
|
Privé, Florian
|
|
|
|
12 |
p. 2042-2055
|
artikel
|
| 34 |
Integrative multiomics analysis highlights immune-cell regulatory mechanisms and shared genetic architecture for 14 immune-associated diseases and cancer outcomes
|
Prince, Claire
|
|
|
|
12 |
p. 2259-2270
|
artikel
|
| 35 |
Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity
|
Long, Erping
|
|
|
|
12 |
p. 2210-2229
|
artikel
|
| 36 |
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial
|
Capalbo, Antonio
|
|
|
|
12 |
p. 2238-2247
|
artikel
|
| 37 |
Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering
|
Shaw, Douglas M.
|
|
|
|
12 |
p. 2271-2283
|
artikel
|
| 38 |
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation
|
Rios, Jonathan J.
|
|
|
|
12 |
p. 2103-2111
|
artikel
|
| 39 |
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization
|
Blout Zawatsky, Carrie L.
|
|
|
|
12 |
p. 2224-2237
|
artikel
|
| 40 |
Systematic comparison of family history and polygenic risk across 24 common diseases
|
Mars, Nina
|
|
|
|
12 |
p. 2152-2162
|
artikel
|
| 41 |
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
|
Hijazi, Hadia
|
|
|
|
12 |
p. 2270-2282
|
artikel
|
| 42 |
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families
|
Suckiel, Sabrina A.
|
|
|
|
12 |
p. 2029-2041
|
artikel
|
| 43 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
|
12 |
p. 2093-2094
|
artikel
|
| 44 |
This month in The Journal
|
Cullinan, Sara B.
|
|
|
|
12 |
p. 2208-2209
|
artikel
|
| 45 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
|
12 |
p. 1987-1988
|
artikel
|
| 46 |
Tree-based QTL mapping with expected local genetic relatedness matrices
|
Link, Vivian
|
|
|
|
12 |
p. 2077-2091
|
artikel
|
| 47 |
Understanding changes in genetic literacy over time and in genetic research participants
|
Little, India D.
|
|
|
|
12 |
p. 2141-2151
|
artikel
|
| 48 |
Welch-weighted Egger regression reduces false positives due to correlated pleiotropy in Mendelian randomization
|
Brown, Brielin C.
|
|
|
|
12 |
p. 2319-2335
|
artikel
|
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