| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS
|
Dey, Rounak
|
|
2017
|
101 |
1 |
p. 37-49
|
artikel
|
| 2 |
A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases
|
Greene, Daniel
|
|
2017
|
101 |
1 |
p. 104-114
|
artikel
|
| 3 |
A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression
|
Chen, Diyu
|
|
2017
|
101 |
1 |
p. 130-138
|
artikel
|
| 4 |
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
|
Seixas, Ana I.
|
|
2017
|
101 |
1 |
p. 87-103
|
artikel
|
| 5 |
Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease
|
Shooshtari, Parisa
|
|
2017
|
101 |
1 |
p. 75-86
|
artikel
|
| 6 |
Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression
|
Hauberg, Mads Engel
|
|
2017
|
101 |
1 |
p. 157
|
artikel
|
| 7 |
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
|
Lehman, Anna
|
|
2017
|
101 |
1 |
p. 65-74
|
artikel
|
| 8 |
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
|
Halim, Danny
|
|
2017
|
101 |
1 |
p. 123-129
|
artikel
|
| 9 |
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
|
Van De Weghe, Julie C.
|
|
2017
|
101 |
1 |
p. 23-36
|
artikel
|
| 10 |
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis
|
Bayram, Yavuz
|
|
2017
|
101 |
1 |
p. 149-156
|
artikel
|
| 11 |
SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data
|
Zhang, Di
|
|
2017
|
101 |
1 |
p. 115-122
|
artikel
|
| 12 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
101 |
1 |
p. 3-4
|
artikel
|
| 13 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
101 |
1 |
p. 1-2
|
artikel
|
| 14 |
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life
|
Acuna-Hidalgo, Rocio
|
|
2017
|
101 |
1 |
p. 50-64
|
artikel
|
| 15 |
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
|
Skraban, Cara M.
|
|
2017
|
101 |
1 |
p. 139-148
|
artikel
|
| 16 |
10 Years of GWAS Discovery: Biology, Function, and Translation
|
Visscher, Peter M.
|
|
2017
|
101 |
1 |
p. 5-22
|
artikel
|
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