Nicki Foulds

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of <i>EHMT1</i> haploinsufficiency to the core phenotype

Tjitske Kleefstra, W. A. van Zelst‐Stams, Willy M. Nillesen et al. · Journal of Medical Genetics · 2009 · 258 citations

Life Sciences, Genetics, Molecular Genetics +15

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

John Barber, Victoria L. Hall, Viv Maloney et al. · European Journal of Human Genetics · 2012 · 74 citations

Life Sciences, Genetics, Molecular Genetics +16

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

Catherine L. Mercer, C.E. Browne, John Barber et al. · Cytogenetic and Genome Research · 2009 · 12 citations

Life Sciences, Genetics, Molecular Genetics +17