| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A Common Functional Regulatory Variant at a Type 2 Diabetes Locus Upregulates ARAP1 Expression in the Pancreatic Beta Cell
|
Kulzer, Jennifer R.
|
|
2014
|
94 |
2 |
p. 186-197
12 p.
|
article
|
| 2 |
A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome
|
Lim, Sze Chern
|
|
2014
|
94 |
2 |
p. 209-222
14 p.
|
article
|
| 3 |
Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks
|
Peloso, Gina M.
|
|
2014
|
94 |
2 |
p. 223-232
10 p.
|
article
|
| 4 |
A Statistical Framework to Guide Sequencing Choices in Pedigrees
|
Cheung, Charles Y.K.
|
|
2014
|
94 |
2 |
p. 257-267
11 p.
|
article
|
| 5 |
Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis
|
Holmes, Michael V.
|
|
2014
|
94 |
2 |
p. 312-
1 p.
|
article
|
| 6 |
Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis
|
Holmes, Michael V.
|
|
2014
|
94 |
2 |
p. 198-208
11 p.
|
article
|
| 7 |
ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function
|
Tummala, Hemanth
|
|
2014
|
94 |
2 |
p. 246-256
11 p.
|
article
|
| 8 |
Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
|
Williamson, Kathleen A.
|
|
2014
|
94 |
2 |
p. 295-302
8 p.
|
article
|
| 9 |
Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
|
Humbert, Camille
|
|
2014
|
94 |
2 |
p. 288-294
7 p.
|
article
|
| 10 |
Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia
|
Esteves, Typhaine
|
|
2014
|
94 |
2 |
p. 268-277
10 p.
|
article
|
| 11 |
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
|
Tuz, Karina
|
|
2014
|
94 |
2 |
p. 310-
1 p.
|
article
|
| 12 |
Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation
|
Howard, Malcolm F.
|
|
2014
|
94 |
2 |
p. 278-287
10 p.
|
article
|
| 13 |
NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability
|
Bosch, Daniëlle G.M.
|
|
2014
|
94 |
2 |
p. 303-309
7 p.
|
article
|
| 14 |
Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes
|
Ayub, Qasim
|
|
2014
|
94 |
2 |
p. 176-185
10 p.
|
article
|
| 15 |
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
|
Freeze, Hudson H.
|
|
2014
|
94 |
2 |
p. 161-175
15 p.
|
article
|
| 16 |
The IL-33-ST2L Pathway Is Associated with Coronary Artery Disease in a Chinese Han Population
|
Tu, Xin
|
|
2014
|
94 |
2 |
p. 311-
1 p.
|
article
|
| 17 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2014
|
94 |
2 |
p. 159-160
2 p.
|
article
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2014
|
94 |
2 |
p. 157-158
2 p.
|
article
|
| 19 |
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
|
Lange, Leslie A.
|
|
2014
|
94 |
2 |
p. 233-245
13 p.
|
article
|
Journal description