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                             38 results found
no title author magazine year volume issue page(s) type
1 Advancing genetic services in African healthcare: Challenges, opportunities, and strategic insights from a scoping review Kamga, Karen Kengne

6 3 p.
article
2 Allele-specific silencing of a dominant SETX mutation in familial amyotrophic lateral sclerosis type 4 Winkelsas, Audrey

6 3 p.
article
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.
article
4 Aortic valve-specific genes dysregulated in calcific aortic valve stenosis as potential biomarkers and therapeutic targets Zamani, Pardis

6 3 p.
article
5 A variant in RNF212B may contribute to female infertility and recurrent pregnancy loss Darko, Michelle E.

6 3 p.
article
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.
article
7 Clinical features and molecular mechanisms of RP1L1 variants causing occult macular dystrophy Pan, Yang

6 3 p.
article
8 Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants Klasfeld, Samantha J.

6 3 p.
article
9 Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies Lubin, Emily E.

6 3 p.
article
10 Enhancing polygenic scores for cardiometabolic traits through tissue- and cell-type-specific functional annotations Norland, Kristjan

6 3 p.
article
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.
article
12 Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation McGivern, Bobbi

6 3 p.
article
13 Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers Telis, Natalie

6 3 p.
article
14 Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies Morrow, Michelle M.

6 3 p.
article
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.
article
16 Integrating spatial transcriptomics and snRNA-seq data enhances differential gene expression analysis results of AD-related phenotypes Tang, Shizhen

6 3 p.
article
17 Interaction between genetic risk and comorbid conditions in endometriosis McGrath, Isabelle M.

6 3 p.
article
18 Long-read sequencing is required for precision diagnosis of incontinentia pigmenti Wojcik, Monica H.

6 3 p.
article
19 MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes Smol, Thomas

6 3 p.
article
20 Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity Mies, Georgia

6 3 p.
article
21 Mid-pass whole-genome sequencing in a Malagasy cohort uncovers body composition associations Hamid, Iman

6 3 p.
article
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.
article
23 Multidisciplinary stakeholder-informed identification of key characteristics for implementation of workplace genetic testing Charnysh, Elizabeth

6 3 p.
article
24 Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease Malhotra, Alka

6 3 p.
article
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.
article
26 Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis Ul Haq, Sami

6 3 p.
article
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.
article
28 Polygenic risk score prediction accuracy convergence Henches, Léo

6 3 p.
article
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.
article
30 Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies Capasso, Dalila

6 3 p.
article
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.
article
32 The chromosomal challenge of human embryos: Mechanisms and fundamentals Ivanova, Anna

6 3 p.
article
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.
article
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.
article
35 The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency McWalter, Kirsty

6 3 p.
article
36 Transcriptomic signatures of rare variant impacts across sex and the X chromosome Ungar, Rachel A.

6 3 p.
article
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.
article
38 Uncovering the genetic architecture and evolutionary roots of androgenetic alopecia in African men Janivara, Rohini

6 3 p.
article
                             38 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands