Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

SETD5loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

(2016) Krzysztof Szczałuba et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation

(2016) Yu Kobayashi et al.   BRAIN & DEVELOPMENT

Setd5is essential for mammalian development and the co-transcriptional regulation of histone acetylation

(2016) Anna B. Osipovich et al.   DEVELOPMENT

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

(2014) Detelina Grozeva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

(2014) Alma Kuechler et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Genetic syndromes caused by mutations in epigenetic genes

(2013) María Berdasco et al.   HUMAN GENETICS

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

(2013) Flavia Amanda Costa-Barbosa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1

(2010) Cecilia Gunnarsson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A