K. Smith

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype

J. Rosenfeld, E. Zackai, M. Parker, 2011, Journal of Medical Genetics.

Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

C. Woods, L. Voullaire, A. Bankier, 1994, Journal of medical genetics.

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

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.

M. Balasubramanian, M. Parker, K. Smith, 2011, European journal of medical genetics.

Case of human chimerism detected by unbalanced chromosome translocation?

C. Woods, K. Smith, 1993, Clinical genetics.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .