Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing
Emilie Lalonde(Western University), Nada Jabado(McGill University), Karine Jacob(McGill University Health Centre), Nathalie Bolduc(McGill University Health Centre), Kevin Ha(McGill University and Génome Québec Innovation Centre), Constantin Polychronakos(McGill University Health Centre), Pierre Déchelotte(Inserm), Steffen Albrecht(University of Auckland), Jacek Majewski(McGill University)
Cited by 124
Related Papers
Prevalence of eating disorders over the 2000–2018 period: a systematic literature review
|American Journal of Clinical Nutrition|2018|1.7k
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas
|Acta Neuropathologica|2012|1k
Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency
|Journal of Clinical Oncology|2016|867
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
|Nature Genetics|2012|752
Subgroup-Specific Prognostic Implications of <i>TP53</i> Mutation in Medulloblastoma
|Journal of Clinical Oncology|2013|488