no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
1 |
Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment
|
Powers, Natalie R. |
|
2014 |
94 |
5 |
p. 798- 1 p. |
article |
2 |
AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking
|
Setta-Kaffetzi, Niovi |
|
2014 |
94 |
5 |
p. 790-797 8 p. |
article |
3 |
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy
|
Sergouniotis, Panagiotis I. |
|
2014 |
94 |
5 |
p. 760-769 10 p. |
article |
4 |
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
|
Pinto, Dalila |
|
2014 |
94 |
5 |
p. 677-694 18 p. |
article |
5 |
De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
|
Xia, Fan |
|
2014 |
94 |
5 |
p. 784-789 6 p. |
article |
6 |
Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature
|
Ordulu, Zehra |
|
2014 |
94 |
5 |
p. 695-709 15 p. |
article |
7 |
Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
|
Humbert, Camille |
|
2014 |
94 |
5 |
p. 799- 1 p. |
article |
8 |
Maternal History of Oceania from Complete mtDNA Genomes: Contrasting Ancient Diversity with Recent Homogenization Due to the Austronesian Expansion
|
Duggan, Ana T. |
|
2014 |
94 |
5 |
p. 721-733 13 p. |
article |
9 |
Maximizing the Power of Principal-Component Analysis of Correlated Phenotypes in Genome-wide Association Studies
|
Aschard, Hugues |
|
2014 |
94 |
5 |
p. 662-676 15 p. |
article |
10 |
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
|
Vulto-van Silfhout, Anneke T. |
|
2014 |
94 |
5 |
p. 649-661 13 p. |
article |
11 |
Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome
|
Patel, Nisha |
|
2014 |
94 |
5 |
p. 755-759 5 p. |
article |
12 |
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
|
McMillin, Margaret J. |
|
2014 |
94 |
5 |
p. 734-744 11 p. |
article |
13 |
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
|
Lindstrand, Anna |
|
2014 |
94 |
5 |
p. 745-754 10 p. |
article |
14 |
Simulation of Finnish Population History, Guided by Empirical Genetic Data, to Assess Power of Rare-Variant Tests in Finland
|
Wang, Sophie R. |
|
2014 |
94 |
5 |
p. 710-720 11 p. |
article |
15 |
This Month in Genetics
|
Garber, Kathryn B. |
|
2014 |
94 |
5 |
p. 647-648 2 p. |
article |
16 |
This Month in The Journal
|
Ratzel, Sarah |
|
2014 |
94 |
5 |
p. 645-646 2 p. |
article |
17 |
Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data
|
Wang, Gao T. |
|
2014 |
94 |
5 |
p. 770-783 14 p. |
article |