title: Imprinting: the Achilles heel of trio-based exome sequencing.
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Emmelien
authors.initials: E
authors.lastname: Aten
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.|Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Fountain
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Arie
authors.initials: A
authors.lastname: van Haeringen
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.|Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.
authors.forename: Christian P
authors.initials: CP
authors.lastname: Schaaf
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Gijs W E
authors.initials: GW
authors.lastname: Santen
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics; D003951:Diagnostic Errors; D059472:Exome; D005188:False Negative Reactions; D005190:Family; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D018392:Genomic Imprinting / Q000502:physiology*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D025202:Molecular Diagnostic Techniques / Q000379:methods* / Q000592:standards; D011218:Prader-Willi Syndrome / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods* / Q000592:standards; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins
chemical_list: D011506:Proteins; C510822:MAGEL2 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins