| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin
|
Molloy, Anne M.
|
|
2016
|
98 |
5 |
p. 869-882
14 p.
|
artikel
|
| 2 |
Allele-Skewed DNA Modification in the Brain: Relevance to a Schizophrenia GWAS
|
Gagliano, Sarah A.
|
|
2016
|
98 |
5 |
p. 956-962
7 p.
|
artikel
|
| 3 |
A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies
|
Bodea, Corneliu A.
|
|
2016
|
98 |
5 |
p. 857-868
12 p.
|
artikel
|
| 4 |
Analyzing Somatic Genome Rearrangements in Human Cancers by Using Whole-Exome Sequencing
|
Yang, Lixing
|
|
2016
|
98 |
5 |
p. 843-856
14 p.
|
artikel
|
| 5 |
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
|
McEntagart, Meriel
|
|
2016
|
98 |
5 |
p. 981-992
12 p.
|
artikel
|
| 6 |
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex
|
You, Jing
|
|
2016
|
98 |
5 |
p. 909-918
10 p.
|
artikel
|
| 7 |
Biallelic BRCA2 Mutations Shape the Somatic Mutational Landscape of Aggressive Prostate Tumors
|
Decker, Brennan
|
|
2016
|
98 |
5 |
p. 818-829
12 p.
|
artikel
|
| 8 |
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness
|
Vincent, Ajoy
|
|
2016
|
98 |
5 |
p. 1011-1019
9 p.
|
artikel
|
| 9 |
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
|
Fregeau, Brieana
|
|
2016
|
98 |
5 |
p. 963-970
8 p.
|
artikel
|
| 10 |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer
|
Maxwell, Kara N.
|
|
2016
|
98 |
5 |
p. 801-817
17 p.
|
artikel
|
| 11 |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
|
Petrovski, Slavé
|
|
2016
|
98 |
5 |
p. 1001-1010
10 p.
|
artikel
|
| 12 |
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility
|
Mbarek, Hamdi
|
|
2016
|
98 |
5 |
p. 898-908
11 p.
|
artikel
|
| 13 |
Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2
|
Simon, Lukas M.
|
|
2016
|
98 |
5 |
p. 883-897
15 p.
|
artikel
|
| 14 |
Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation
|
Do, Catherine
|
|
2016
|
98 |
5 |
p. 934-955
22 p.
|
artikel
|
| 15 |
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
|
Gan-Or, Ziv
|
|
2016
|
98 |
5 |
p. 1038-1046
9 p.
|
artikel
|
| 16 |
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
|
van den Boogaard, Marlinde L.
|
|
2016
|
98 |
5 |
p. 1020-1029
10 p.
|
artikel
|
| 17 |
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
|
Li, Jun
|
|
2016
|
98 |
5 |
p. 830-842
13 p.
|
artikel
|
| 18 |
Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates
|
Willems, Thomas
|
|
2016
|
98 |
5 |
p. 919-933
15 p.
|
artikel
|
| 19 |
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
|
Gerber, Sylvie
|
|
2016
|
98 |
5 |
p. 971-980
10 p.
|
artikel
|
| 20 |
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
|
Metodiev, Metodi D.
|
|
2016
|
98 |
5 |
p. 993-1000
8 p.
|
artikel
|
| 21 |
Somatic Mutations in NEK9 Cause Nevus Comedonicus
|
Levinsohn, Jonathan L.
|
|
2016
|
98 |
5 |
p. 1030-1037
8 p.
|
artikel
|
| 22 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2016
|
98 |
5 |
p. 799-800
2 p.
|
artikel
|
| 23 |
This Month in The Journal
|
Cullinan, Sara B.
|
|
2016
|
98 |
5 |
p. 797-798
2 p.
|
artikel
|
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