The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

(2016) Anna Lindstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

(2016) Elisa Giorgio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autosomal recessive mutations inTHOC6cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

(2016) J.S. Amos et al.   CLINICAL GENETICS

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

(2016) Rolph Pfundt et al.   GENETICS IN MEDICINE

Partial USH2A deletions contribute to Usher syndrome in Denmark

(2015) Shzeena Dad et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

(2013) P. M. Boone et al.   GENOME RESEARCH

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

(2012) Giuseppe Marangi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

(2012) Naseebullah Kakar et al.   European Journal of Medical Genetics

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

(2011) R Abou Jamra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A homozygous deletion of 8q24.3 including theNIBPgene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features

(2010) Arie Koifman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cohen syndrome diagnosis using whole genome arrays

(2010) N. Rivera-Brugues et al.   JOURNAL OF MEDICAL GENETICS

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

(2009) Orianne Philippe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

(2009) Asif Mir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

(2009) Ganeshwaran H. Mochida et al.   AMERICAN JOURNAL OF HUMAN GENETICS