NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report

A novel missense mutation in theNSDHLgene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

(2015) Egle Preiksaitiene et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development

(2015) David Cunningham et al.   HUMAN MOLECULAR GENETICS

Xq28 duplication overlapping theint22h-1/int22h-2region and includingRAB39BandCLIC2in a family with intellectual and developmental disability

(2014) Erica F. Andersen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recent developments in the genetics of autism spectrum disorders

(2013) John D Murdoch et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Autism

(2013) Meng-Chuan Lai et al.   LANCET

Disorders of sterol synthesis: Beyond Smith-Lemli-Opitz syndrome

(2012) Gail E. Herman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections

(2012) Xiu Xu et al.   BMC Medical Genetics

Hydrogen/deuterium exchange reflects binding of human centrin 2 to Ca2+ and Xeroderma pigmentosum Group C peptide: An example of EX1 kinetics

(2012) Justin B. Sperry et al.   INTERNATIONAL JOURNAL OF MASS SPECTROMETRY

Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome

(2012) Rodney C Samaco et al.   NATURE GENETICS

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

(2011) A. W. El-Hattab et al.   JOURNAL OF MEDICAL GENETICS

Genetics of autism spectrum disorders

(2011) Daniel H. Geschwind   TRENDS IN COGNITIVE SCIENCES

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

(2010) Keith W. McLarren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetics of Autism Spectrum Disorders and Related Neuropsychiatric Disorders in Childhood

(2010) Paul Lichtenstein et al.   AMERICAN JOURNAL OF PSYCHIATRY

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Abnormal Behavior in a Chromosome- Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism

(2009) Jin Nakatani et al.   CELL

Distal Xq duplication and functional Xq disomy

(2009) Damien Sanlaville et al.   Orphanet Journal of Rare Diseases

Genotype, haplotype and copy-number variation in worldwide human populations

(2008) Mattias Jakobsson et al.   NATURE