| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Antisense Oligonucleotide-Based Therapy in Human Erythropoietic Protoporphyria
|
Oustric, Vincent
|
|
2014
|
94 |
4 |
p. 611-617
7 p.
|
article
|
| 2 |
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
|
Grozeva, Detelina
|
|
2014
|
94 |
4 |
p. 618-624
7 p.
|
article
|
| 3 |
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy
|
Cushion, Thomas D.
|
|
2014
|
94 |
4 |
p. 634-641
8 p.
|
article
|
| 4 |
Fine Mapping Seronegative and Seropositive Rheumatoid Arthritis to Shared and Distinct HLA Alleles by Adjusting for the Effects of Heterogeneity
|
Han, Buhm
|
|
2014
|
94 |
4 |
p. 522-532
11 p.
|
article
|
| 5 |
GeMes, Clusters of DNA Methylation under Genetic Control, Can Inform Genetic and Epigenetic Analysis of Disease
|
Liu, Yun
|
|
2014
|
94 |
4 |
p. 485-495
11 p.
|
article
|
| 6 |
Genetic Origins of Lactase Persistence and the Spread of Pastoralism in Africa
|
Ranciaro, Alessia
|
|
2014
|
94 |
4 |
p. 496-510
15 p.
|
article
|
| 7 |
Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits
|
Pickrell, Joseph K.
|
|
2014
|
94 |
4 |
p. 559-573
15 p.
|
article
|
| 8 |
Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia
|
Hervé, Dominique
|
|
2014
|
94 |
4 |
p. 642-
1 p.
|
article
|
| 9 |
Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage
|
Woo, Daniel
|
|
2014
|
94 |
4 |
p. 511-521
11 p.
|
article
|
| 10 |
Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
|
Zankl, Andreas
|
|
2014
|
94 |
4 |
p. 643-
1 p.
|
article
|
| 11 |
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures
|
Zhang, Xiaochang
|
|
2014
|
94 |
4 |
p. 547-558
12 p.
|
article
|
| 12 |
Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
|
Singleton, Marc V.
|
|
2014
|
94 |
4 |
p. 599-610
12 p.
|
article
|
| 13 |
Progesterone Antagonist Therapy in a Pelizaeus-Merzbacher Mouse Model
|
Prukop, Thomas
|
|
2014
|
94 |
4 |
p. 533-546
14 p.
|
article
|
| 14 |
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
|
Al Turki, Saeed
|
|
2014
|
94 |
4 |
p. 574-585
12 p.
|
article
|
| 15 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2014
|
94 |
4 |
p. 483-484
2 p.
|
article
|
| 16 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2014
|
94 |
4 |
p. 481-482
2 p.
|
article
|
| 17 |
Two Functional Lupus-Associated BLK Promoter Variants Control Cell-Type- and Developmental-Stage-Specific Transcription
|
Guthridge, Joel M.
|
|
2014
|
94 |
4 |
p. 586-598
13 p.
|
article
|
| 18 |
Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy
|
El Shamieh, Said
|
|
2014
|
94 |
4 |
p. 625-633
9 p.
|
article
|
Journal description