N R Dennis

Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data

Diane Allingham‐Hawkins, Riyana Babul‐Hirji, David Chitayat et al. · American Journal of Medical Genetics · 1999 · 498 citations · Full text

Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith et al. · The American Journal of Human Genetics · 1999 · 240 citations · Full text

Down Syndrome, Mendelian Disorder, Genetic Disorder +7

Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations

C.E. Browne, N R Dennis, E.R. Maher et al. · The American Journal of Human Genetics · 1997 · 208 citations · Full text

Genetic Disorder, Genetics, Molecular Genetics +2

Elastin: mutational spectrum in supravalvular aortic stenosis

Kay Metcalfe, Agnes K Rucka, Leslie Smoot et al. · European Journal of Human Genetics · 2000 · 174 citations · Full text

Cardiovascular Disease, Valve Disease, Vascular Biology +5

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Christiane Zweier, Christian T. Thiel, Andreas Dufke et al. · European Journal of Medical Genetics · 2005 · 135 citations

Genetic Disorder, Genetics, Pathology +4