S. Mehta

Genotype–phenotype studies of VCP‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

J. Platt, M. Pasquali, K. Osann, 2013, Clinical genetics.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome

J. Tolmie, K. Lachlan, B. Kerr, 2013, Clinical genetics.

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

D. Drachman, A. Kaminska, C. Weihl, 2007, Clinical genetics.

7q11.23 Microduplication: a recognizable phenotype

S. McKee, S. McCullough, A. Dixit, 2013, Clinical genetics.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Ibitoye, Fitzpatrick, Connell, 2017, Genetics in Medicine.