A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

A prospective double-blind, randomized clinical trial of levocarnitine to treat autism spectrum disorders

(2013) David A. Geier et al.   MEDICAL SCIENCE MONITOR

Prevalence of Autism Spectrum Disorders in a Total Population Sample

(2011) Young Shin Kim et al.   AMERICAN JOURNAL OF PSYCHIATRY

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

(2011) Philip M Boone et al.   GENETICS IN MEDICINE

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

(2011) Patricia B.S. Celestino-Soper et al.   HUMAN MOLECULAR GENETICS

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

(2011) D A Rossignol et al.   MOLECULAR PSYCHIATRY

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Nutritional assessment and support of the patient with acute heart failure

(2010) Satyam Sarma et al.   Current Opinion in Critical Care

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Role of carnitine in disease

(2010) Judith L Flanagan et al.   Nutrition & Metabolism

Hepatic uptake of γ-butyrobetaine, a precursor of carnitine biosynthesis, in rats

(2009) Masaharu Fujita et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

(2009) Marwan Shinawi et al.   NATURE GENETICS

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

(2009) Jonathan Sebat et al.   TRENDS IN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Development and validation of a measure of dysmorphology: Useful for autism subgroup classification

(2008) Judith H. Miles et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Role of Acetyl-L-Carnitine in the Treatment of Diabetic Peripheral Neuropathy

(2008) Jeffery D Evans et al.   ANNALS OF PHARMACOTHERAPY

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE