| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
|
Flex, Elisabetta
|
|
|
105 |
3 |
p. 493-508
|
artikel
|
| 2 |
Advancing Research and Privacy: Achievements, Challenges, and Core Principles
|
|
|
|
105 |
3 |
p. 445-447
|
artikel
|
| 3 |
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
|
van Karnebeek, Clara D.M.
|
|
|
105 |
3 |
p. 534-548
|
artikel
|
| 4 |
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
|
Holt, Richard J.
|
|
|
105 |
3 |
p. 640-657
|
artikel
|
| 5 |
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
|
Kanca, Oguz
|
|
|
105 |
3 |
p. 672-674
|
artikel
|
| 6 |
Distinct HLA Associations with Rheumatoid Arthritis Subsets Defined by Serological Subphenotype
|
Terao, Chikashi
|
|
|
105 |
3 |
p. 616-624
|
artikel
|
| 7 |
Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology
|
Spracklen, Cassandra N.
|
|
|
105 |
3 |
p. 670-671
|
artikel
|
| 8 |
Extreme Polygenicity of Complex Traits Is Explained by Negative Selection
|
O'Connor, Luke J.
|
|
|
105 |
3 |
p. 456-476
|
artikel
|
| 9 |
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma
|
Egolf, Laura E.
|
|
|
105 |
3 |
p. 658-668
|
artikel
|
| 10 |
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
|
Fischer-Zirnsak, Björn
|
|
|
105 |
3 |
p. 631-639
|
artikel
|
| 11 |
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
|
|
|
|
105 |
3 |
p. 588-605
|
artikel
|
| 12 |
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
|
Bosticardo, Marita
|
|
|
105 |
3 |
p. 549-561
|
artikel
|
| 13 |
Identifying Putative Susceptibility Genes and Evaluating Their Associations with Somatic Mutations in Human Cancers
|
Chen, Zhishan
|
|
|
105 |
3 |
p. 477-492
|
artikel
|
| 14 |
Mendelian Gene Discovery: Fast and Furious with No End in Sight
|
Bamshad, Michael J.
|
|
|
105 |
3 |
p. 448-455
|
artikel
|
| 15 |
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1
|
Ajeawung, Norbert F.
|
|
|
105 |
3 |
p. 625-630
|
artikel
|
| 16 |
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly
|
Bryen, Samantha J.
|
|
|
105 |
3 |
p. 573-587
|
artikel
|
| 17 |
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
|
Balak, Chris
|
|
|
105 |
3 |
p. 509-525
|
artikel
|
| 18 |
Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting
|
Gordon, Adam S.
|
|
|
105 |
3 |
p. 526-533
|
artikel
|
| 19 |
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
|
Cameron-Christie, Sophia R.
|
|
|
105 |
3 |
p. 669
|
artikel
|
| 20 |
Redefining the Etiologic Landscape of Cerebellar Malformations
|
Aldinger, Kimberly A.
|
|
|
105 |
3 |
p. 606-615
|
artikel
|
| 21 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
105 |
3 |
p. 443-444
|
artikel
|
| 22 |
Using Transcriptomic Hidden Variables to Infer Context-Specific Genotype Effects in the Brain
|
Ng, Bernard
|
|
|
105 |
3 |
p. 562-572
|
artikel
|
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