| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Advancing genetic services in African healthcare: Challenges, opportunities, and strategic insights from a scoping review
|
Kamga, Karen Kengne
|
|
|
6 |
3 |
p.
|
artikel
|
| 2 |
Allele-specific silencing of a dominant SETX mutation in familial amyotrophic lateral sclerosis type 4
|
Winkelsas, Audrey
|
|
|
6 |
3 |
p.
|
artikel
|
| 3 |
A multi-level gene-diet interaction analysis of fish oil and 14 polyunsaturated fatty acid traits identifies the FADS and GPR12 loci
|
Ihejirika, Susan Adanna
|
|
|
6 |
3 |
p.
|
artikel
|
| 4 |
Aortic valve-specific genes dysregulated in calcific aortic valve stenosis as potential biomarkers and therapeutic targets
|
Zamani, Pardis
|
|
|
6 |
3 |
p.
|
artikel
|
| 5 |
A variant in RNF212B may contribute to female infertility and recurrent pregnancy loss
|
Darko, Michelle E.
|
|
|
6 |
3 |
p.
|
artikel
|
| 6 |
Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership
|
Trzupek, Karmen
|
|
|
6 |
3 |
p.
|
artikel
|
| 7 |
Clinical features and molecular mechanisms of RP1L1 variants causing occult macular dystrophy
|
Pan, Yang
|
|
|
6 |
3 |
p.
|
artikel
|
| 8 |
Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants
|
Klasfeld, Samantha J.
|
|
|
6 |
3 |
p.
|
artikel
|
| 9 |
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies
|
Lubin, Emily E.
|
|
|
6 |
3 |
p.
|
artikel
|
| 10 |
Enhancing polygenic scores for cardiometabolic traits through tissue- and cell-type-specific functional annotations
|
Norland, Kristjan
|
|
|
6 |
3 |
p.
|
artikel
|
| 11 |
Genetic ancestry influences gene-environment interactions with sociocultural factors: Results from the Hispanic Community Health Study/Study of Latinos
|
Sharma, Jayati
|
|
|
6 |
3 |
p.
|
artikel
|
| 12 |
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation
|
McGivern, Bobbi
|
|
|
6 |
3 |
p.
|
artikel
|
| 13 |
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers
|
Telis, Natalie
|
|
|
6 |
3 |
p.
|
artikel
|
| 14 |
Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies
|
Morrow, Michelle M.
|
|
|
6 |
3 |
p.
|
artikel
|
| 15 |
Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases
|
Ng, Hau-Yee
|
|
|
6 |
3 |
p.
|
artikel
|
| 16 |
Integrating spatial transcriptomics and snRNA-seq data enhances differential gene expression analysis results of AD-related phenotypes
|
Tang, Shizhen
|
|
|
6 |
3 |
p.
|
artikel
|
| 17 |
Interaction between genetic risk and comorbid conditions in endometriosis
|
McGrath, Isabelle M.
|
|
|
6 |
3 |
p.
|
artikel
|
| 18 |
Long-read sequencing is required for precision diagnosis of incontinentia pigmenti
|
Wojcik, Monica H.
|
|
|
6 |
3 |
p.
|
artikel
|
| 19 |
MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes
|
Smol, Thomas
|
|
|
6 |
3 |
p.
|
artikel
|
| 20 |
Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity
|
Mies, Georgia
|
|
|
6 |
3 |
p.
|
artikel
|
| 21 |
Mid-pass whole-genome sequencing in a Malagasy cohort uncovers body composition associations
|
Hamid, Iman
|
|
|
6 |
3 |
p.
|
artikel
|
| 22 |
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
|
Stenton, Sarah L.
|
|
|
6 |
3 |
p.
|
artikel
|
| 23 |
Multidisciplinary stakeholder-informed identification of key characteristics for implementation of workplace genetic testing
|
Charnysh, Elizabeth
|
|
|
6 |
3 |
p.
|
artikel
|
| 24 |
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease
|
Malhotra, Alka
|
|
|
6 |
3 |
p.
|
artikel
|
| 25 |
Multi-tissue transcriptome-wide association study identifies novel candidate genes and pleiotropy effects across four abdominal hernia subtypes
|
Chaar, Dima L.
|
|
|
6 |
3 |
p.
|
artikel
|
| 26 |
Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis
|
Ul Haq, Sami
|
|
|
6 |
3 |
p.
|
artikel
|
| 27 |
Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown
|
Young, Randee E.
|
|
|
6 |
3 |
p.
|
artikel
|
| 28 |
Polygenic risk score prediction accuracy convergence
|
Henches, Léo
|
|
|
6 |
3 |
p.
|
artikel
|
| 29 |
Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene
|
Betz, Christian
|
|
|
6 |
3 |
p.
|
artikel
|
| 30 |
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies
|
Capasso, Dalila
|
|
|
6 |
3 |
p.
|
artikel
|
| 31 |
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies
|
Plowman, Jocelyn N.
|
|
|
6 |
3 |
p.
|
artikel
|
| 32 |
The chromosomal challenge of human embryos: Mechanisms and fundamentals
|
Ivanova, Anna
|
|
|
6 |
3 |
p.
|
artikel
|
| 33 |
The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans
|
Ampuja, Minna
|
|
|
6 |
3 |
p.
|
artikel
|
| 34 |
The impact of genetic ancestry on survival outcomes in pediatric rhabdomyosarcoma: A report from the Children’s Oncology Group
|
Onwuka, Ekene A.
|
|
|
6 |
3 |
p.
|
artikel
|
| 35 |
The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency
|
McWalter, Kirsty
|
|
|
6 |
3 |
p.
|
artikel
|
| 36 |
Transcriptomic signatures of rare variant impacts across sex and the X chromosome
|
Ungar, Rachel A.
|
|
|
6 |
3 |
p.
|
artikel
|
| 37 |
Two-sample bi-directional causality between two traits with some invalid IVs in both directions using GWAS summary statistics
|
Chen, Siyi
|
|
|
6 |
3 |
p.
|
artikel
|
| 38 |
Uncovering the genetic architecture and evolutionary roots of androgenetic alopecia in African men
|
Janivara, Rohini
|
|
|
6 |
3 |
p.
|
artikel
|
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