| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
|
Capri, Yline
|
|
|
104 |
6 |
p. 1223-1232
|
artikel
|
| 2 |
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
|
Helbig, Ingo
|
|
|
104 |
6 |
p. 1060-1072
|
artikel
|
| 3 |
Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms
|
Fine, Rebecca S.
|
|
|
104 |
6 |
p. 1025-1039
|
artikel
|
| 4 |
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
|
Ansar, Muhammad
|
|
|
104 |
6 |
p. 1073-1087
|
artikel
|
| 5 |
Cell-Type Heterogeneity in Adipose Tissue Is Associated with Complex Traits and Reveals Disease-Relevant Cell-Specific eQTLs
|
Glastonbury, Craig A.
|
|
|
104 |
6 |
p. 1013-1024
|
artikel
|
| 6 |
Estimating the Effectiveness of DPYD Genotyping in Italian Individuals Suffering from Cancer Based on the Cost of Chemotherapy-Induced Toxicity
|
Fragoulakis, Vasileios
|
|
|
104 |
6 |
p. 1158-1168
|
artikel
|
| 7 |
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
|
Bauer, Christiane K.
|
|
|
104 |
6 |
p. 1139-1157
|
artikel
|
| 8 |
Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland
|
Kerminen, Sini
|
|
|
104 |
6 |
p. 1169-1181
|
artikel
|
| 9 |
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
|
Niihori, Tetsuya
|
|
|
104 |
6 |
p. 1233-1240
|
artikel
|
| 10 |
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
|
O’Donnell-Luria, Anne H.
|
|
|
104 |
6 |
p. 1210-1222
|
artikel
|
| 11 |
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans
|
Duijkers, Floor A.
|
|
|
104 |
6 |
p. 1040-1059
|
artikel
|
| 12 |
Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation
|
Silvert, Martin
|
|
|
104 |
6 |
p. 1241-1250
|
artikel
|
| 13 |
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease
|
Wright, Galen E.B.
|
|
|
104 |
6 |
p. 1116-1126
|
artikel
|
| 14 |
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
|
Monies, Dorota
|
|
|
104 |
6 |
p. 1182-1201
|
artikel
|
| 15 |
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
|
Nicoli, Elena-Raluca
|
|
|
104 |
6 |
p. 1127-1138
|
artikel
|
| 16 |
On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations
|
Zhong, Yizhen
|
|
|
104 |
6 |
p. 1097-1115
|
artikel
|
| 17 |
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
|
Monies, Dorota
|
|
|
104 |
6 |
p. 1202-1209
|
artikel
|
| 18 |
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research
|
Horowitz, Carol R.
|
|
|
104 |
6 |
p. 1088-1096
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
104 |
6 |
p. 1011-1012
|
artikel
|
| 20 |
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
|
Farazi Fard, Mohammad Ali
|
|
|
104 |
6 |
p. 1251
|
artikel
|
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