Another explanation for familial Cornelia de Lange syndrome

A novel role for the DNA repair gene Rad51 in Netrin-1 signalling.

Scientific reports·2017

Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome.

Fetal diagnosis and therapy·2010

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Journal of medical genetics·2008

A new dominantly inherited pure cerebellar ataxia, SCA 30.

Journal of neurology, neurosurgery, and psychiatry·2008

Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics·2005