| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
|
Kohl, Susanne
|
|
2012
|
91 |
3 |
p. 527-532
6 p.
|
article
|
| 2 |
Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1
|
Guergueltcheva, Velina
|
|
2012
|
91 |
3 |
p. 553-564
12 p.
|
article
|
| 3 |
Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts
|
Bick, Alexander G.
|
|
2012
|
91 |
3 |
p. 513-519
7 p.
|
article
|
| 4 |
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
|
Soemedi, Rachel
|
|
2012
|
91 |
3 |
p. 489-501
13 p.
|
article
|
| 5 |
David L. Rimoin
|
Cohn, Daniel H.
|
|
2012
|
91 |
3 |
p. 403-407
5 p.
|
article
|
| 6 |
Divergent Whole-Genome Methylation Maps of Human and Chimpanzee Brains Reveal Epigenetic Basis of Human Regulatory Evolution
|
Zeng, Jia
|
|
2012
|
91 |
3 |
p. 455-465
11 p.
|
article
|
| 7 |
DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution
|
Dumas, Laura J.
|
|
2012
|
91 |
3 |
p. 444-454
11 p.
|
article
|
| 8 |
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
|
Manzini, M. Chiara
|
|
2012
|
91 |
3 |
p. 541-547
7 p.
|
article
|
| 9 |
Genetic Risk Factors for Type 2 Diabetes: A Trans-Regulatory Genetic Architecture?
|
Elbein, Steven C.
|
|
2012
|
91 |
3 |
p. 466-477
12 p.
|
article
|
| 10 |
Genome-wide Association and Population Genetic Analysis of C-Reactive Protein in African American and Hispanic American Women
|
Reiner, Alex P.
|
|
2012
|
91 |
3 |
p. 502-512
11 p.
|
article
|
| 11 |
Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63
|
Zarnegar, Brian J.
|
|
2012
|
91 |
3 |
p. 435-443
9 p.
|
article
|
| 12 |
HYST: A Hybrid Set-Based Test for Genome-wide Association Studies, with Application to Protein-Protein Interaction-Based Association Analysis
|
Li, Miao-Xin
|
|
2012
|
91 |
3 |
p. 478-488
11 p.
|
article
|
| 13 |
Loss of SUFU Function in Familial Multiple Meningioma
|
Aavikko, Mervi
|
|
2012
|
91 |
3 |
p. 520-526
7 p.
|
article
|
| 14 |
Mutation of Membrane Type-1 Metalloproteinase, MT1-MMP, Causes the Multicentric Osteolysis and Arthritis Disease Winchester Syndrome
|
Evans, Brad R.
|
|
2012
|
91 |
3 |
p. 572-576
5 p.
|
article
|
| 15 |
Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
|
Parry, David A.
|
|
2012
|
91 |
3 |
p. 565-571
7 p.
|
article
|
| 16 |
Prioritizing Genetic Variants for Causality on the Basis of Preferential Linkage Disequilibrium
|
Zhu, Qianqian
|
|
2012
|
91 |
3 |
p. 422-434
13 p.
|
article
|
| 17 |
Questioning the Limits of Genomic Privacy
|
Knoppers, Bartha M.
|
|
2012
|
91 |
3 |
p. 577-578
2 p.
|
article
|
| 18 |
Response to Knoppers et al.
|
Im, Hae Kyung
|
|
2012
|
91 |
3 |
p. 579-
1 p.
|
article
|
| 19 |
RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex
|
Kheradmand Kia, Sima
|
|
2012
|
91 |
3 |
p. 533-540
8 p.
|
article
|
| 20 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2012
|
91 |
3 |
p. 401-402
2 p.
|
article
|
| 21 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2012
|
91 |
3 |
p. 399-400
2 p.
|
article
|
| 22 |
Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
|
Zhu, Mingfu
|
|
2012
|
91 |
3 |
p. 408-421
14 p.
|
article
|
| 23 |
VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families
|
Bourassa, Cynthia V.
|
|
2012
|
91 |
3 |
p. 548-552
5 p.
|
article
|
Journal description