| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
|
Harms, Frederike L.
|
|
2018
|
103 |
4 |
p. 579-591
|
artikel
|
| 2 |
A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function
|
Starita, Lea M.
|
|
2018
|
103 |
4 |
p. 498-508
|
artikel
|
| 3 |
An Ancient Fecundability-Associated Polymorphism Creates a GATA2 Binding Site in a Distal Enhancer of HLA-F
|
Mika, Katelyn M.
|
|
2018
|
103 |
4 |
p. 509-521
|
artikel
|
| 4 |
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
|
Ferreira, Carlos R.
|
|
2018
|
103 |
4 |
p. 553-567
|
artikel
|
| 5 |
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
|
Olson, Heather E.
|
|
2018
|
103 |
4 |
p. 631
|
artikel
|
| 6 |
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition
|
Alkanderi, Sumaya
|
|
2018
|
103 |
4 |
p. 612-620
|
artikel
|
| 7 |
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts
|
Ansar, Muhammad
|
|
2018
|
103 |
4 |
p. 568-578
|
artikel
|
| 8 |
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
|
Alston, Charlotte L.
|
|
2018
|
103 |
4 |
p. 592-601
|
artikel
|
| 9 |
Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data
|
Guo, Michael H.
|
|
2018
|
103 |
4 |
p. 522-534
|
artikel
|
| 10 |
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants
|
Alirezaie, Najmeh
|
|
2018
|
103 |
4 |
p. 474-483
|
artikel
|
| 11 |
Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure
|
Haas, Mary E.
|
|
2018
|
103 |
4 |
p. 461-473
|
artikel
|
| 12 |
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes
|
Azaiez, Hela
|
|
2018
|
103 |
4 |
p. 484-497
|
artikel
|
| 13 |
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
|
Bauer, Christiane K.
|
|
2018
|
103 |
4 |
p. 621-630
|
artikel
|
| 14 |
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
|
Nguyen, Thi Tuyet Mai
|
|
2018
|
103 |
4 |
p. 602-611
|
artikel
|
| 15 |
Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits
|
Freund, Malika Kumar
|
|
2018
|
103 |
4 |
p. 535-552
|
artikel
|
| 16 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2018
|
103 |
4 |
p. 459-460
|
artikel
|
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