| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
|
Nixon, Kevin C.J.
|
|
2019
|
104 |
4 |
p. 596-610
|
artikel
|
| 2 |
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
|
Shaheen, Ranad
|
|
2019
|
104 |
4 |
p. 731-737
|
artikel
|
| 3 |
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice
|
Liu, Wangjie
|
|
2019
|
104 |
4 |
p. 738-748
|
artikel
|
| 4 |
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
|
Hiatt, Susan M.
|
|
2019
|
104 |
4 |
p. 701-708
|
artikel
|
| 5 |
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
|
Diets, Illja J.
|
|
2019
|
104 |
4 |
p. 758-766
|
artikel
|
| 6 |
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
|
Calpena, Eduardo
|
|
2019
|
104 |
4 |
p. 709-720
|
artikel
|
| 7 |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
|
Zawerton, Ash
|
|
2019
|
104 |
4 |
p. 777
|
artikel
|
| 8 |
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
|
Palmer, Elizabeth E.
|
|
2019
|
104 |
4 |
p. 778
|
artikel
|
| 9 |
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
|
Aref-Eshghi, Erfan
|
|
2019
|
104 |
4 |
p. 685-700
|
artikel
|
| 10 |
Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species
|
Hujoel, Margaux L.A.
|
|
2019
|
104 |
4 |
p. 611-624
|
artikel
|
| 11 |
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia
|
Morini, Elisabetta
|
|
2019
|
104 |
4 |
p. 638-650
|
artikel
|
| 12 |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct
|
Ferreira, Manuel A.R.
|
|
2019
|
104 |
4 |
p. 665-684
|
artikel
|
| 13 |
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
|
Salpietro, Vincenzo
|
|
2019
|
104 |
4 |
p. 721-730
|
artikel
|
| 14 |
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas
|
Remacha, Laura
|
|
2019
|
104 |
4 |
p. 651-664
|
artikel
|
| 15 |
Response to ASHG: Science and Politics Should Be Mutually Sanctuarized
|
Tibayrenc, Michel
|
|
2019
|
104 |
4 |
p. 774-775
|
artikel
|
| 16 |
Response to Tibayrenc: On the ASHG Perspective on Genetics and Racial Supremacy
|
|
|
2019
|
104 |
4 |
p. 776
|
artikel
|
| 17 |
Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates
|
Zhu, Xuling
|
|
2019
|
104 |
4 |
p. 625-637
|
artikel
|
| 18 |
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
|
Marbach, Felix
|
|
2019
|
104 |
4 |
p. 749-757
|
artikel
|
| 19 |
The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders
|
Zepeda-Mendoza, Cinthya J.
|
|
2019
|
104 |
4 |
p. 565-577
|
artikel
|
| 20 |
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
|
Bombard, Yvonne
|
|
2019
|
104 |
4 |
p. 578-595
|
artikel
|
| 21 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2019
|
104 |
4 |
p. 563-564
|
artikel
|
| 22 |
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
|
Farazi Fard, Mohammad Ali
|
|
2019
|
104 |
4 |
p. 767-773
|
artikel
|
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