Associated Papers
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L et al.
Human Mutation, 2019
Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.
Dharmaraj T et al.
Frontiers in Cell and Developmental Biology, 2019
31024910 (PubMed )
Supplement: Table_1.XLSX › BANF1
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.
Janin A et al.
Orphanet Journal of Rare Diseases, 2017
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Soria-Valles C et al.
Journal of Medical Genetics, 2016
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.
Finsterer J
Pediatric Cardiology, 2009
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