author-photo

John Dean

Aberdeen Royal Infirmary

31

Papers

1212

Citations

Citation Trend

Filter By

Papers (20) Sort By

Journal Conference Others

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

2020 Brain
Show All
- Source
- Cite
- Save
Citations (12)
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

2020 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (17)
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

2019 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (18)
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection

2019 Nature Neuroscience
Show All
- Source
- Cite
- Save
Citations (31)
Quantifying the contribution of recessive coding variation to developmental disorders.

2018 Science
Show All
- Source
- Cite
- Save
Citations (89)
Phenotypic spectrum associated with de novo mutations in QRICH1 gene

2018 Clinical Genetics
Show All
- Source
- Cite
- Save
Citations (8)
Marfan Syndrome and Related Disorders

2018
- John Dean
- Bart Loeys
Show All
- Source
- Cite
- Save
Citations (1)
Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles

2017 bioRxiv
Show All
- Source
- Cite
- Save
Citations (3)
A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

2017 bioRxiv
Show All
- Source
- Cite
- Save
Citations (3)
203 ELN Gene: UKGTN Service for SVAS and Cutis Laxa. Copy Number Variants (CNVS) Are a Common Cause of Disease

2016 Heart
Show All
- Source
- Cite
- Save
Citations (0)