| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
|
Haack, Tobias B.
|
|
2016
|
99 |
3 |
p. 735-743
9 p.
|
artikel
|
| 2 |
Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes
|
Glastonbury, Craig A.
|
|
2016
|
99 |
3 |
p. 567-579
13 p.
|
artikel
|
| 3 |
Ancestral Origins and Genetic History of Tibetan Highlanders
|
Lu, Dongsheng
|
|
2016
|
99 |
3 |
p. 580-594
15 p.
|
artikel
|
| 4 |
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
|
Breuss, Martin W.
|
|
2016
|
99 |
3 |
p. 785-
1 p.
|
artikel
|
| 5 |
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
|
Smedley, Damian
|
|
2016
|
99 |
3 |
p. 595-606
12 p.
|
artikel
|
| 6 |
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy
|
Guimier, Anne
|
|
2016
|
99 |
3 |
p. 666-673
8 p.
|
artikel
|
| 7 |
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
|
Namburi, Prasanthi
|
|
2016
|
99 |
3 |
p. 777-784
8 p.
|
artikel
|
| 8 |
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
|
Muona, Mikko
|
|
2016
|
99 |
3 |
p. 683-694
12 p.
|
artikel
|
| 9 |
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
|
Colin, Estelle
|
|
2016
|
99 |
3 |
p. 695-703
9 p.
|
artikel
|
| 10 |
Complex Sources of Variation in Tissue Expression Data: Analysis of the GTEx Lung Transcriptome
|
McCall, Matthew N.
|
|
2016
|
99 |
3 |
p. 624-635
12 p.
|
artikel
|
| 11 |
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
|
Kim, Jung-Hyun
|
|
2016
|
99 |
3 |
p. 711-719
9 p.
|
artikel
|
| 12 |
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
|
Tokita, Mari J.
|
|
2016
|
99 |
3 |
p. 720-727
8 p.
|
artikel
|
| 13 |
Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders
|
Guo, Michael H.
|
|
2016
|
99 |
3 |
p. 527-539
13 p.
|
artikel
|
| 14 |
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
|
Joshi, Ricky S.
|
|
2016
|
99 |
3 |
p. 555-566
12 p.
|
artikel
|
| 15 |
Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections
|
Guo, Dong-chuan
|
|
2016
|
99 |
3 |
p. 762-769
8 p.
|
artikel
|
| 16 |
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
|
Lodder, Elisabeth M.
|
|
2016
|
99 |
3 |
p. 704-710
7 p.
|
artikel
|
| 17 |
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
|
Lodder, Elisabeth M.
|
|
2016
|
99 |
3 |
p. 786-
1 p.
|
artikel
|
| 18 |
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
|
Bauché, Stéphanie
|
|
2016
|
99 |
3 |
p. 753-761
9 p.
|
artikel
|
| 19 |
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
|
Nikopoulos, Konstantinos
|
|
2016
|
99 |
3 |
p. 770-776
7 p.
|
artikel
|
| 20 |
Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest
|
Xu, Yao
|
|
2016
|
99 |
3 |
p. 744-752
9 p.
|
artikel
|
| 21 |
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
|
Leppa, Virpi M.
|
|
2016
|
99 |
3 |
p. 540-554
15 p.
|
artikel
|
| 22 |
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
|
Auer-Grumbach, Michaela
|
|
2016
|
99 |
3 |
p. 607-623
17 p.
|
artikel
|
| 23 |
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2
|
Kennedy, Hannah
|
|
2016
|
99 |
3 |
p. 674-682
9 p.
|
artikel
|
| 24 |
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype
|
Hosseinibarkooie, Seyyedmohsen
|
|
2016
|
99 |
3 |
p. 647-665
19 p.
|
artikel
|
| 25 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2016
|
99 |
3 |
p. 525-526
2 p.
|
artikel
|
| 26 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2016
|
99 |
3 |
p. 523-524
2 p.
|
artikel
|
| 27 |
Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity
|
Mahajan, Anubha
|
|
2016
|
99 |
3 |
p. 636-646
11 p.
|
artikel
|
| 28 |
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
|
Bain, Jennifer M.
|
|
2016
|
99 |
3 |
p. 728-734
7 p.
|
artikel
|
| 29 |
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis
|
Polfus, Linda M.
|
|
2016
|
99 |
3 |
p. 785-
1 p.
|
artikel
|
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