| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome
|
Levy, Tess
|
|
|
6 |
2 |
p.
|
artikel
|
| 2 |
A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype
|
Rowe, Leah
|
|
|
6 |
2 |
p.
|
artikel
|
| 3 |
A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures
|
Muir, Alison M.
|
|
|
6 |
2 |
p.
|
artikel
|
| 4 |
Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal adenocarcinoma
|
Yan, Li
|
|
|
6 |
2 |
p.
|
artikel
|
| 5 |
Cardiovascular disease-associated non-coding variants disrupt GATA4-DNA binding and regulatory functions
|
Peña-Martínez, Edwin G.
|
|
|
6 |
2 |
p.
|
artikel
|
| 6 |
Caution when using network partners for target identification in drug discovery
|
Tan, Dandan
|
|
|
6 |
2 |
p.
|
artikel
|
| 7 |
Circadian rhythm defects in Prader-Willi syndrome neurons
|
Victor, A. Kaitlyn
|
|
|
6 |
2 |
p.
|
artikel
|
| 8 |
Context-specific eQTLs provide deeper insight into causal genes underlying shared genetic architecture of COVID-19 and idiopathic pulmonary fibrosis
|
Dalapati, Trisha
|
|
|
6 |
2 |
p.
|
artikel
|
| 9 |
De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies
|
Torti, Erin
|
|
|
6 |
2 |
p.
|
artikel
|
| 10 |
Evaluation of imputation performance of multiple reference panels in a Pakistani population
|
Xu, Jiayi
|
|
|
6 |
2 |
p.
|
artikel
|
| 11 |
Families’ experiences of receiving adult- and pediatric-onset genetic results
|
Goehringer, Jessica
|
|
|
6 |
2 |
p.
|
artikel
|
| 12 |
Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies
|
Fernandez-Luna, Luis
|
|
|
6 |
2 |
p.
|
artikel
|
| 13 |
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6
|
Bates, Blaine A.
|
|
|
6 |
2 |
p.
|
artikel
|
| 14 |
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
|
Karp-Tatham, Eleanor
|
|
|
6 |
2 |
p.
|
artikel
|
| 15 |
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL
|
Carbonell, Elizabeth
|
|
|
6 |
2 |
p.
|
artikel
|
| 16 |
Mapping dynamic regulation of gene expression using single-cell transcriptomics and application to complex disease genetics
|
Abe, Hanna
|
|
|
6 |
2 |
p.
|
artikel
|
| 17 |
Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay
|
Napier, Melanie P.
|
|
|
6 |
2 |
p.
|
artikel
|
| 18 |
Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features
|
Ettaki, Imane
|
|
|
6 |
2 |
p.
|
artikel
|
| 19 |
Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population
|
Lin, Qiongfen
|
|
|
6 |
2 |
p.
|
artikel
|
| 20 |
Pitfalls in performing genome-wide association studies on ratio traits
|
McCaw, Zachary R.
|
|
|
6 |
2 |
p.
|
artikel
|
| 21 |
Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease
|
Marquez, Jonathan
|
|
|
6 |
2 |
p.
|
artikel
|
| 22 |
Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency
|
Gregor, Anne
|
|
|
6 |
2 |
p.
|
artikel
|
| 23 |
Response to Karp-Tatham et al.
|
Marchal, Astrid
|
|
|
6 |
2 |
p.
|
artikel
|
| 24 |
Revisiting variation in the somatic mutation landscape of non-small cell lung cancer
|
Pathak, Vaibhavi
|
|
|
6 |
2 |
p.
|
artikel
|
| 25 |
Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects
|
Downie, Carolina G.
|
|
|
6 |
2 |
p.
|
artikel
|
| 26 |
Transcriptome-wide analyses delineate the genetic architecture of expression variation in atopic dermatitis
|
Antonatos, Charalabos
|
|
|
6 |
2 |
p.
|
artikel
|
| 27 |
Unbiased causal inference with Mendelian randomization and covariate-adjusted GWAS data
|
Wang, Peiyao
|
|
|
6 |
2 |
p.
|
artikel
|
| 28 |
Unraveling the genetic landscape of susceptibility to multiple primary cancers
|
Middha, Pooja
|
|
|
6 |
2 |
p.
|
artikel
|
| 29 |
Using genetics, genomics, and transcriptomics to identify therapeutic targets in juvenile idiopathic arthritis
|
Tarbell, Evan
|
|
|
6 |
2 |
p.
|
artikel
|
Tijdschrift beschrijving