A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

(2010) Frans A Hol et al.   CLINICAL GENETICS

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome

(2009) Bärbel Felder et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

(2009) Deqiong Ma et al.   ANNALS OF HUMAN GENETICS

A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties

(2009) H Lybaek et al.   CLINICAL GENETICS

The role of rare structural variants in the genetics of autism spectrum disorders

(2009) M. Kusenda et al.   CYTOGENETIC AND GENOME RESEARCH

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

(2009) R. A. Kumar et al.   JOURNAL OF MEDICAL GENETICS

Common genetic variants on 5p14.1 associate with autism spectrum disorders

(2009) Kai Wang et al.   NATURE

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE