| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accounting for population structure in genetic studies of cystic fibrosis
|
Kingston, Hanley
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3 |
p.
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artikel
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| 2 |
A complex structural variant near SOX3 causes X-linked split-hand/foot malformation
|
de Boer, Elke
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3 |
p.
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artikel
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| 3 |
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders
|
Parikh, Jignesh R.
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3 |
p.
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artikel
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| 4 |
Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations
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Horimoto, Andrea R.V.R.
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3 |
p.
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artikel
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| 5 |
A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure
|
Gershoni, Moran
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3 |
p.
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artikel
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| 6 |
A Polynesian-specific missense CETP variant alters the lipid profile
|
Moors, Jaye
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3 |
p.
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artikel
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| 7 |
Artificial intelligence-driven pan-cancer analysis reveals miRNA signatures for cancer stage prediction
|
Yerukala Sathipati, Srinivasulu
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3 |
p.
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artikel
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| 8 |
Beyond borders: A commentary on the benefit of promoting immigrant populations in genome-wide association studies
|
Fernández-Rhodes, Lindsay
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3 |
p.
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artikel
|
| 9 |
BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion
|
Sofer, Tamar
|
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3 |
p.
|
artikel
|
| 10 |
Bridging the diversity gap: Analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction
|
Bocher, Ozvan
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3 |
p.
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artikel
|
| 11 |
Challenges in screening for de novo noncoding variants contributing to genetically complex phenotypes
|
Castro, Christopher P.
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3 |
p.
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artikel
|
| 12 |
Cloud-based biomedical data storage and analysis for genomic research: Landscape analysis of data governance in emerging NIH-supported platforms
|
Dahlquist, Jacklyn M.
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3 |
p.
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artikel
|
| 13 |
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease
|
Teekakirikul, Polakit
|
|
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3 |
p.
|
artikel
|
| 14 |
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
|
Werren, Elizabeth A.
|
|
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3 |
p.
|
artikel
|
| 15 |
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
|
Asif, Maria
|
|
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3 |
p.
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artikel
|
| 16 |
Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis
|
Padgett, Leah R.
|
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3 |
p.
|
artikel
|
| 17 |
Eight fingers and eight toes
|
Jorde, Debbie
|
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3 |
p.
|
artikel
|
| 18 |
Exome-wide analysis reveals role of LRP1 and additional novel loci in cognition
|
Chakraborty, Shreya
|
|
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3 |
p.
|
artikel
|
| 19 |
Gene, cell type, and drug prioritization analysis suggest genetic basis for the utility of diuretics in treating Alzheimer disease
|
Pinakhina, Daria
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3 |
p.
|
artikel
|
| 20 |
Genetic and clinical determinants of telomere length
|
Allaire, Patrick
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3 |
p.
|
artikel
|
| 21 |
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
|
Elliott, Alison M.
|
|
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3 |
p.
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artikel
|
| 22 |
Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records
|
Kim, Hye In
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3 |
p.
|
artikel
|
| 23 |
Genomic medicine and the “loss of chance” medical malpractice doctrine
|
Wagner, Jennifer K.
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3 |
p.
|
artikel
|
| 24 |
Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing
|
Fang, Li
|
|
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|
3 |
p.
|
artikel
|
| 25 |
Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas
|
Zhong, Guojie
|
|
|
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3 |
p.
|
artikel
|
| 26 |
Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas
|
Zhong, Guojie
|
|
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3 |
p.
|
artikel
|
| 27 |
Improving polygenic prediction with genetically inferred ancestry
|
Naret, Olivier
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3 |
p.
|
artikel
|
| 28 |
Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate
|
Welzenbach, Julia
|
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3 |
p.
|
artikel
|
| 29 |
Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals
|
Chen, Hongjie
|
|
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3 |
p.
|
artikel
|
| 30 |
Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience
|
Muenzen, Kathleen D.
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|
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3 |
p.
|
artikel
|
| 31 |
Letter to editor: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
|
Maldonado, Andrés A.
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3 |
p.
|
artikel
|
| 32 |
Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits
|
Bahda, Meriem
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3 |
p.
|
artikel
|
| 33 |
MUNIn: A statistical framework for identifying long-range chromatin interactions from multiple samples
|
Liu, Weifang
|
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|
3 |
p.
|
artikel
|
| 34 |
Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer
|
Kar, Siddhartha P.
|
|
|
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3 |
p.
|
artikel
|
| 35 |
Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease
|
Spendlove, Sarah J.
|
|
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|
3 |
p.
|
artikel
|
| 36 |
Polynomial Mendelian randomization reveals non-linear causal effects for obesity-related traits
|
Sulc, Jonathan
|
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|
3 |
p.
|
artikel
|
| 37 |
Powerful eQTL mapping through low-coverage RNA sequencing
|
Schwarz, Tommer
|
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|
3 |
p.
|
artikel
|
| 38 |
PTPN4 germline variants result in aberrant neurodevelopment and growth
|
Chmielewska, Joanna J.
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3 |
p.
|
artikel
|
| 39 |
Quality control of large genome datasets
|
Robinson, Max
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3 |
p.
|
artikel
|
| 40 |
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
|
Jolly, Angad
|
|
|
|
3 |
p.
|
artikel
|
| 41 |
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
|
French, Courtney E.
|
|
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3 |
p.
|
artikel
|
| 42 |
Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development
|
Perl, Eliyahu
|
|
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|
3 |
p.
|
artikel
|
| 43 |
The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort
|
Zaidi, Arslan A.
|
|
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|
3 |
p.
|
artikel
|
| 44 |
The genetic architecture of Alzheimer disease risk in the Ohio and Indiana Amish
|
Osterman, Michael D.
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|
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3 |
p.
|
artikel
|
| 45 |
The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome
|
Wei, Ruipeng
|
|
|
|
3 |
p.
|
artikel
|
| 46 |
Transcriptome-wide association study identifies novel candidate susceptibility genes for migraine
|
Meyers, Travis J.
|
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|
|
3 |
p.
|
artikel
|
| 47 |
Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia
|
Peter, Beate
|
|
|
|
3 |
p.
|
artikel
|
| 48 |
Using GWAS summary data to impute traits for genotyped individuals
|
Ren, Jingchen
|
|
|
|
3 |
p.
|
artikel
|
| 49 |
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
|
Chong, Jessica X.
|
|
|
|
3 |
p.
|
artikel
|
| 50 |
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease
|
Derksen, Alexa
|
|
|
|
3 |
p.
|
artikel
|
| 51 |
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
|
Sobering, Andrew K.
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|
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3 |
p.
|
artikel
|
| 52 |
X chromosome inactivation in the human placenta is patchy and distinct from adult tissues
|
Phung, Tanya N.
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|
|
|
3 |
p.
|
artikel
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