N. Foulds

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH

V. Maloney, C. Mercer, J. Barber, 2009, Cytogenetic and Genome Research.

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

A. Collins, D. Bunyan, C. Turner, 2009, American journal of medical genetics. Part A.

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

M. Roberts, F. Muntoni, R. Horvath, 2012, Journal of Neurology.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy

Shuwen Huang, V. Maloney, J. Barber, 2009, American journal of medical genetics. Part A.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Shuwen Huang, V. Maloney, J. Barber, 2012, European Journal of Human Genetics.