| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding
|
Painter, Jodie N.
|
|
2016
|
98 |
6 |
p. 1159-1169
11 p.
|
artikel
|
| 2 |
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
|
Twigg, Stephen R.F.
|
|
2016
|
98 |
6 |
p. 1256-1265
10 p.
|
artikel
|
| 3 |
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
|
Chen, Dong-Hui
|
|
2016
|
98 |
6 |
p. 1146-1158
13 p.
|
artikel
|
| 4 |
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
|
Cho, Sung Yoon
|
|
2016
|
98 |
6 |
p. 1243-1248
6 p.
|
artikel
|
| 5 |
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
|
Green, Robert C.
|
|
2016
|
98 |
6 |
p. 1051-1066
16 p.
|
artikel
|
| 6 |
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants
|
Jarvik, Gail P.
|
|
2016
|
98 |
6 |
p. 1077-1081
5 p.
|
artikel
|
| 7 |
Efficient Integrative Multi-SNP Association Analysis via Deterministic Approximation of Posteriors
|
Wen, Xiaoquan
|
|
2016
|
98 |
6 |
p. 1114-1129
16 p.
|
artikel
|
| 8 |
Fast and Accurate Construction of Confidence Intervals for Heritability
|
Schweiger, Regev
|
|
2016
|
98 |
6 |
p. 1181-1192
12 p.
|
artikel
|
| 9 |
Genomic Profiling of Thyroid Cancer Reveals a Role for Thyroglobulin in Metastasis
|
Siraj, Abdul K.
|
|
2016
|
98 |
6 |
p. 1170-1180
11 p.
|
artikel
|
| 10 |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
|
Madeo, Marianna
|
|
2016
|
98 |
6 |
p. 1249-1255
7 p.
|
artikel
|
| 11 |
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
|
Park, Jong G.
|
|
2016
|
98 |
6 |
p. 1220-1227
8 p.
|
artikel
|
| 12 |
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
|
Dumanski, Jan P.
|
|
2016
|
98 |
6 |
p. 1208-1219
12 p.
|
artikel
|
| 13 |
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
|
Gan-Or, Ziv
|
|
2016
|
98 |
6 |
p. 1271-
1 p.
|
artikel
|
| 14 |
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness
|
Delmaghani, Sedigheh
|
|
2016
|
98 |
6 |
p. 1266-1270
5 p.
|
artikel
|
| 15 |
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease
|
Porath, Binu
|
|
2016
|
98 |
6 |
p. 1193-1207
15 p.
|
artikel
|
| 16 |
Mutations in SLC26A1 Cause Nephrolithiasis
|
Gee, Heon Yung
|
|
2016
|
98 |
6 |
p. 1228-1234
7 p.
|
artikel
|
| 17 |
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
|
Li, Na
|
|
2016
|
98 |
6 |
p. 1082-1091
10 p.
|
artikel
|
| 18 |
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
|
Boyle, Lia
|
|
2016
|
98 |
6 |
p. 1235-1242
8 p.
|
artikel
|
| 19 |
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
|
Amendola, Laura M.
|
|
2016
|
98 |
6 |
p. 1067-1076
10 p.
|
artikel
|
| 20 |
Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children
|
Rautanen, Anna
|
|
2016
|
98 |
6 |
p. 1092-1100
9 p.
|
artikel
|
| 21 |
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
|
Olsen, Rikke K.J.
|
|
2016
|
98 |
6 |
p. 1130-1145
16 p.
|
artikel
|
| 22 |
RNA Interference Prevents Autosomal-Dominant Hearing Loss
|
Shibata, Seiji B.
|
|
2016
|
98 |
6 |
p. 1101-1113
13 p.
|
artikel
|
| 23 |
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma
|
Ayturk, Ugur M.
|
|
2016
|
98 |
6 |
p. 1271-
1 p.
|
artikel
|
| 24 |
The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England
|
Yu-Wai-Man, P.
|
|
2016
|
98 |
6 |
p. 1271-
1 p.
|
artikel
|
| 25 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2016
|
98 |
6 |
p. 1049-1050
2 p.
|
artikel
|
| 26 |
This Month in The Journal
|
Cullinan, Sara B.
|
|
2016
|
98 |
6 |
p. 1047-1048
2 p.
|
artikel
|
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