K. Friend

Familial 22q11.2 duplication: a three‐generation family with a 3‐Mb duplication and a familial 1.5‐Mb duplication

S. Yu, J. Liebelt, E. Thompson, 2007, Clinical genetics.

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, K. Boycott, D. Bulman, 2012, Orphanet Journal of Rare Diseases.

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

J. Gécz, A. Clarke, P. Tam, 2004, American journal of human genetics.

A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology

E. Haan, B. Talseth-Palmer, C. Meldrum, 2009, Cytogenetic and Genome Research.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

X‐linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths

S. Yu, P. Harvey, C. Dolphin, 2005, Clinical genetics.

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

R. Richards, D. Ravine, L. Sheffield, 1992, The Lancet.