| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
AHDC1 missense mutations in Xia-Gibbs syndrome
|
Khayat, Michael M.
|
|
|
|
4 |
p.
|
artikel
|
| 2 |
A Mendelian randomization-based exploration of red blood cell distribution width and mean corpuscular volume with risk of hemorrhagic strokes
|
Liu, Jundong
|
|
|
|
4 |
p.
|
artikel
|
| 3 |
An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention
|
Jørsboe, Emil
|
|
|
|
4 |
p.
|
artikel
|
| 4 |
An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome
|
Kolevzon, Alexander
|
|
|
|
4 |
p.
|
artikel
|
| 5 |
A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry
|
Dawson, Jessica
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|
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|
4 |
p.
|
artikel
|
| 6 |
A scalable Bayesian functional GWAS method accounting for multivariate quantitative functional annotations with applications for studying Alzheimer disease
|
Chen, Junyu
|
|
|
|
4 |
p.
|
artikel
|
| 7 |
Assessing Vietnamese American patient perspectives on population genetic testing in primary care: A community-engaged approach
|
Lemke, Amy A.
|
|
|
|
4 |
p.
|
artikel
|
| 8 |
ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10
|
Morato Torres, C. Alejandra
|
|
|
|
4 |
p.
|
artikel
|
| 9 |
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
|
Tran, Thao T.
|
|
|
|
4 |
p.
|
artikel
|
| 10 |
BRCA1 frameshift variants leading to extended incorrect protein C termini
|
Nepomuceno, Thales C.
|
|
|
|
4 |
p.
|
artikel
|
| 11 |
Building an optimal predictive model for imputing tissue-specific gene expression by combining genotype and whole-blood transcriptome data
|
Jung, Sunwoo
|
|
|
|
4 |
p.
|
artikel
|
| 12 |
Centering Equity in Human Genetics and Genomics Advances
|
Wagner, Jennifer K.
|
|
|
|
4 |
p.
|
artikel
|
| 13 |
Closing the loop: Editors' feedback on the ASHG readership survey
|
Bamshad, Michael J.
|
|
|
|
4 |
p.
|
artikel
|
| 14 |
Complete loss of TP53 and RB1 is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma
|
Beird, Hannah C.
|
|
|
|
4 |
p.
|
artikel
|
| 15 |
Cultivating diversity as an ethos with an anti-racism approach in the scientific enterprise
|
Thomas, Shameka P.
|
|
|
|
4 |
p.
|
artikel
|
| 16 |
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
|
Duan, Ruizhi
|
|
|
|
4 |
p.
|
artikel
|
| 17 |
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
|
Nair, Divya
|
|
|
|
4 |
p.
|
artikel
|
| 18 |
Evaluating genomic polygenic risk scores for childhood acute lymphoblastic leukemia in Latinos
|
Jeon, Soyoung
|
|
|
|
4 |
p.
|
artikel
|
| 19 |
Founder population-specific weights yield improvements in performance of polygenic risk scores for Alzheimer disease in the Midwestern Amish
|
Osterman, Michael D.
|
|
|
|
4 |
p.
|
artikel
|
| 20 |
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
|
Nishio, Yosuke
|
|
|
|
4 |
p.
|
artikel
|
| 21 |
Genetically predicted waist-to-hip circumference ratio and coronary artery disease: A sex-specific Mendelian randomization study
|
Ye, Qiang
|
|
|
|
4 |
p.
|
artikel
|
| 22 |
Genetic ancestry and ethnic identity in Ecuador
|
Nagar, Shashwat Deepali
|
|
|
|
4 |
p.
|
artikel
|
| 23 |
Genetics for all: Tri-directional research engagement as an equitable framework for international partnerships
|
Billawala, Thalia
|
|
|
|
4 |
p.
|
artikel
|
| 24 |
Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein’s anomaly
|
Zhou, Zhou
|
|
|
|
4 |
p.
|
artikel
|
| 25 |
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
|
Shieh, Joseph T.
|
|
|
|
4 |
p.
|
artikel
|
| 26 |
Identifying and correcting for misspecifications in GWAS summary statistics and polygenic scores
|
Privé, Florian
|
|
|
|
4 |
p.
|
artikel
|
| 27 |
Leveraging omics data to boost the power of genome-wide association studies
|
Lin, Zhaotong
|
|
|
|
4 |
p.
|
artikel
|
| 28 |
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
|
Fadaie, Zeinab
|
|
|
|
4 |
p.
|
artikel
|
| 29 |
Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations
|
Araujo, Daniel S.
|
|
|
|
4 |
p.
|
artikel
|
| 30 |
Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations
|
Lepamets, Maarja
|
|
|
|
4 |
p.
|
artikel
|
| 31 |
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants
|
Mukherjee, Souhrid
|
|
|
|
4 |
p.
|
artikel
|
| 32 |
Phenotypes of undiagnosed adults with actionable OTC and GLA variants
|
Gold, Jessica I.
|
|
|
|
4 |
p.
|
artikel
|
| 33 |
Polygenic risk scores in the clinic: Translating risk into action
|
Lewis, Anna C.F.
|
|
|
|
4 |
p.
|
artikel
|
| 34 |
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
|
Bryen, Samantha J.
|
|
|
|
4 |
p.
|
artikel
|
| 35 |
Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling
|
Jungels, Apolline
|
|
|
|
4 |
p.
|
artikel
|
| 36 |
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome
|
Blue, Elizabeth E.
|
|
|
|
4 |
p.
|
artikel
|
| 37 |
Revealing polygenic pleiotropy using genetic risk scores for asthma
|
Dapas, Matthew
|
|
|
|
4 |
p.
|
artikel
|
| 38 |
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
|
Corradi, Zelia
|
|
|
|
4 |
p.
|
artikel
|
| 39 |
The legacy of language: What we say, and what people hear, when we talk about genomics
|
Middleton, Anna
|
|
|
|
4 |
p.
|
artikel
|
| 40 |
The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes
|
Li, Peining
|
|
|
|
4 |
p.
|
artikel
|
| 41 |
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma
|
Jensen, Marlene Richter
|
|
|
|
4 |
p.
|
artikel
|
| 42 |
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate
|
Robinson, Kelsey
|
|
|
|
4 |
p.
|
artikel
|
| 43 |
Universal genome-wide association studies: Powerful joint ancestry and association testing
|
Shriner, Daniel
|
|
|
|
4 |
p.
|
artikel
|
| 44 |
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
|
Sanjurjo-Soriano, Carla
|
|
|
|
4 |
p.
|
artikel
|
| 45 |
X chromosome inactivation in the human placenta is patchy and distinct from adult tissues
|
Phung, Tanya N.
|
|
|
|
4 |
p.
|
artikel
|
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