| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
|
Wilson, Matthew P.
|
|
|
|
11 |
p. 2130-2144
|
artikel
|
| 2 |
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure
|
Grinton, Bronwyn E.
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|
|
|
11 |
p. 2080-2087
|
artikel
|
| 3 |
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms
|
Shetty, Anamay
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|
|
|
11 |
p. 2071-2085
|
artikel
|
| 4 |
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
|
Mah-Som, Annelise Y.
|
|
|
|
11 |
p. 1959-1975
|
artikel
|
| 5 |
A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics
|
Zhang, Zixuan
|
|
|
|
11 |
p. 1863-1874
|
artikel
|
| 6 |
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
|
Khalaf-Nazzal, Reham
|
|
|
|
11 |
p. 2068-2079
|
artikel
|
| 7 |
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
|
Hochberg, Irit
|
|
|
|
11 |
p. 2195-2204
|
artikel
|
| 8 |
Bonsai: An efficient method for inferring large human pedigrees from genotype data
|
Jewett, Ethan M.
|
|
|
|
11 |
p. 2052-2070
|
artikel
|
| 9 |
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
|
Boycott, Kym M.
|
|
|
|
11 |
p. 1947-1959
|
artikel
|
| 10 |
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
|
Stolz, Jacob R.
|
|
|
|
11 |
p. 2206
|
artikel
|
| 11 |
Conceptualization of utility in translational clinical genomics research
|
Smith, Hadley Stevens
|
|
|
|
11 |
p. 2027-2036
|
artikel
|
| 12 |
Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia
|
Zhao, Boxun
|
|
|
|
11 |
p. 1976-1982
|
artikel
|
| 13 |
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
|
Gardner, Eugene J.
|
|
|
|
11 |
p. 2186-2194
|
artikel
|
| 14 |
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin
|
Domingo, Aloysius
|
|
|
|
11 |
p. 2145-2158
|
artikel
|
| 15 |
Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes
|
Miga, Karen H.
|
|
|
|
11 |
p. 1832-1840
|
artikel
|
| 16 |
Establishing risk of vision loss in Leber hereditary optic neuropathy
|
Lopez Sanchez, M. Isabel G.
|
|
|
|
11 |
p. 2159-2170
|
artikel
|
| 17 |
Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics
|
Chan, Tsz Fung
|
|
|
|
11 |
p. 1853-1862
|
artikel
|
| 18 |
Factorizing polygenic epistasis improves prediction and uncovers biological pathways in complex traits
|
Tang, David
|
|
|
|
11 |
p. 1875-1887
|
artikel
|
| 19 |
FastRNA: An efficient solution for PCA of single-cell RNA-sequencing data based on a batch-accounting count model
|
Lee, Hanbin
|
|
|
|
11 |
p. 1974-1985
|
artikel
|
| 20 |
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA
|
Xiao, Sihao
|
|
|
|
11 |
p. 1903-1918
|
artikel
|
| 21 |
Genetic overlap and causality between blood metabolites and migraine
|
Tanha, Hamzeh M.
|
|
|
|
11 |
p. 2086-2098
|
artikel
|
| 22 |
Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome
|
Pourtoy-Brasselet, Sandra
|
|
|
|
11 |
p. 2171-2185
|
artikel
|
| 23 |
Identification of a robust DNA methylation signature for Fanconi anemia
|
Pagliara, Daria
|
|
|
|
11 |
p. 1938-1949
|
artikel
|
| 24 |
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
|
Danis, Daniel
|
|
|
|
11 |
p. 2205
|
artikel
|
| 25 |
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans
|
Belbin, Gillian M.
|
|
|
|
11 |
p. 2099-2111
|
artikel
|
| 26 |
Liability-scale heritability estimation for biobank studies of low-prevalence disease
|
Ojavee, Sven E.
|
|
|
|
11 |
p. 2009-2017
|
artikel
|
| 27 |
MagicalRsq: Machine-learning-based genotype imputation quality calibration
|
Sun, Quan
|
|
|
|
11 |
p. 1986-1997
|
artikel
|
| 28 |
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
|
Van de Sompele, Stijn
|
|
|
|
11 |
p. 2029-2048
|
artikel
|
| 29 |
Potentially pathogenic and pathogenic G6PD variants
|
Luzzatto, Lucio
|
|
|
|
11 |
p. 1983-1985
|
artikel
|
| 30 |
Power of inclusion: Enhancing polygenic prediction with admixed individuals
|
Tanigawa, Yosuke
|
|
|
|
11 |
p. 1888-1902
|
artikel
|
| 31 |
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing
|
Linder, Jodell E.
|
|
|
|
11 |
p. 1950-1958
|
artikel
|
| 32 |
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
|
Nil, Zelha
|
|
|
|
11 |
p. 1919-1937
|
artikel
|
| 33 |
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
|
Mirshahi, Uyenlinh L
|
|
|
|
11 |
p. 2018-2028
|
artikel
|
| 34 |
Response to Eura et al.
|
Yu, Jiaxi
|
|
|
|
11 |
p. 2090-2091
|
artikel
|
| 35 |
Response to Luzzatto et al.
|
Geck, Renee C.
|
|
|
|
11 |
p. 1986
|
artikel
|
| 36 |
Revisiting the out of Africa event with a deep-learning approach
|
Montinaro, Francesco
|
|
|
|
11 |
p. 2037-2051
|
artikel
|
| 37 |
RILPL1-related OPDM is absent in a Japanese cohort
|
Eura, Nobuyuki
|
|
|
|
11 |
p. 2088-2089
|
artikel
|
| 38 |
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
|
Tudini, Emma
|
|
|
|
11 |
p. 1960-1973
|
artikel
|
| 39 |
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
|
Motta, Marialetizia
|
|
|
|
11 |
p. 2112-2129
|
artikel
|
| 40 |
The construction of cross-population polygenic risk scores using transfer learning
|
Zhao, Zhangchen
|
|
|
|
11 |
p. 1998-2008
|
artikel
|
| 41 |
The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care
|
Vassy, Jason L.
|
|
|
|
11 |
p. 1841-1852
|
artikel
|
| 42 |
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability
|
Huang, Yan
|
|
|
|
11 |
p. 2092
|
artikel
|
| 43 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
|
11 |
p. 1945-1946
|
artikel
|
| 44 |
This month in The Journal
|
Cullinan, Sara B.
|
|
|
|
11 |
p. 2025-2026
|
artikel
|
| 45 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
|
11 |
p. 1827-1828
|
artikel
|
| 46 |
To boldly go: Unpacking the NHGRI’s bold predictions for human genomics by 2030
|
Gunter, Chris
|
|
|
|
11 |
p. 1829-1831
|
artikel
|
| 47 |
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
|
Mohajeri, Kiana
|
|
|
|
11 |
p. 2049-2067
|
artikel
|
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