| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse
|
Dong, Frederick N.
|
|
|
102 |
4 |
p. 636-648
|
article
|
| 2 |
A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression
|
Kycia, Ina
|
|
|
102 |
4 |
p. 620-635
|
article
|
| 3 |
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity
|
Zarouchlioti, Christina
|
|
|
102 |
4 |
p. 528-539
|
article
|
| 4 |
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome
|
Blackburn, Patrick R.
|
|
|
102 |
4 |
p. 696-705
|
article
|
| 5 |
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
|
Mendes, Marisa I.
|
|
|
102 |
4 |
p. 676-684
|
article
|
| 6 |
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
|
Angius, Andrea
|
|
|
102 |
4 |
p. 713
|
article
|
| 7 |
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
|
Lake, Nicole J.
|
|
|
102 |
4 |
p. 713
|
article
|
| 8 |
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
|
Gardeitchik, Thatjana
|
|
|
102 |
4 |
p. 685-695
|
article
|
| 9 |
Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility
|
Sang, Qing
|
|
|
102 |
4 |
p. 649-657
|
article
|
| 10 |
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
|
Albert, Silvia
|
|
|
102 |
4 |
p. 517-527
|
article
|
| 11 |
Identification of Misclassified ClinVar Variants via Disease Population Prevalence
|
Shah, Naisha
|
|
|
102 |
4 |
p. 609-619
|
article
|
| 12 |
L-GATOR: Genetic Association Testing for a Longitudinally Measured Quantitative Trait in Samples with Related Individuals
|
Wu, Xiaowei
|
|
|
102 |
4 |
p. 574-591
|
article
|
| 13 |
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections
|
Guo, Dong-chuan
|
|
|
102 |
4 |
p. 706-712
|
article
|
| 14 |
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
|
Vögtle, F.-Nora
|
|
|
102 |
4 |
p. 557-573
|
article
|
| 15 |
Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial
|
Lewis, Katie L.
|
|
|
102 |
4 |
p. 540-546
|
article
|
| 16 |
PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger
|
Verma, Anurag
|
|
|
102 |
4 |
p. 592-608
|
article
|
| 17 |
Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project
|
Pemberton, Trevor J.
|
|
|
102 |
4 |
p. 658-675
|
article
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
102 |
4 |
p. 515-516
|
article
|
| 19 |
Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase
|
Shriner, Daniel
|
|
|
102 |
4 |
p. 547-556
|
article
|
Journal description