Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

(2014) Hengameh Abdollahpour et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

(2013) Christopher A. Tan et al.   BRAIN & DEVELOPMENT

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

(2013) Janneke H M Schuurs-Hoeijmakers et al.   JOURNAL OF MEDICAL GENETICS

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

(2012) Anita Rauch et al.   LANCET

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

(2012) Peter Bauer et al.   NEUROGENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability

(2012) Leigh Anne Flore et al.   Seminars in Pediatric Neurology

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

(2011) Fadi F. Hamdan et al.   BIOLOGICAL PSYCHIATRY

Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2011) D. J. Michelson et al.   NEUROLOGY

Natural history of Christianson syndrome

(2010) Richard J. Schroer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS