| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
|
Schoch, Kelly
|
|
2017
|
100 |
2 |
p. 343-351
|
article
|
| 2 |
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
|
Arno, Gavin
|
|
2017
|
100 |
2 |
p. 334-342
|
article
|
| 3 |
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
|
Anikster, Yair
|
|
2017
|
100 |
2 |
p. 257-266
|
article
|
| 4 |
Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice
|
Carrat, Gaelle R.
|
|
2017
|
100 |
2 |
p. 238-256
|
article
|
| 5 |
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
|
Küry, Sébastien
|
|
2017
|
100 |
2 |
p. 352-363
|
article
|
| 6 |
Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach
|
Wan, Zhiyu
|
|
2017
|
100 |
2 |
p. 316-322
|
article
|
| 7 |
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
|
Li, Quan
|
|
2017
|
100 |
2 |
p. 267-280
|
article
|
| 8 |
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
|
Lee, John Y.W.
|
|
2017
|
100 |
2 |
p. 364-370
|
article
|
| 9 |
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
|
Van Damme, Tim
|
|
2017
|
100 |
2 |
p. 216-227
|
article
|
| 10 |
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
|
Oud, Machteld M.
|
|
2017
|
100 |
2 |
p. 281-296
|
article
|
| 11 |
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
|
Macia, Maxence S.
|
|
2017
|
100 |
2 |
p. 323-333
|
article
|
| 12 |
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
|
Macia, Maxence S.
|
|
2017
|
100 |
2 |
p. 372
|
article
|
| 13 |
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis
|
Riessland, Markus
|
|
2017
|
100 |
2 |
p. 297-315
|
article
|
| 14 |
Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits
|
Morrison, Alanna C.
|
|
2017
|
100 |
2 |
p. 205-215
|
article
|
| 15 |
The Genetic Architecture of Gene Expression in Peripheral Blood
|
Lloyd-Jones, Luke R.
|
|
2017
|
100 |
2 |
p. 228-237
|
article
|
| 16 |
The Genetic Architecture of Gene Expression in Peripheral Blood
|
Lloyd-Jones, Luke R.
|
|
2017
|
100 |
2 |
p. 371
|
article
|
| 17 |
The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data
|
He, Zongxiao
|
|
2017
|
100 |
2 |
p. 193-204
|
article
|
| 18 |
The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data
|
He, Zongxiao
|
|
2017
|
100 |
2 |
p. 371
|
article
|
| 19 |
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
|
Ramoni, Rachel B.
|
|
2017
|
100 |
2 |
p. 185-192
|
article
|
| 20 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
100 |
2 |
p. 183-184
|
article
|
| 21 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
100 |
2 |
p. 181-182
|
article
|
Journal description