Karen Brøndum‐Nielsen

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +23

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

Sarah L. Nolin, W. Ted Brown, Anne Glicksman et al. · The American Journal of Human Genetics · 2003 · 418 citations · Full text

Allelic Variant, Genetic Disorder, Genetics +6

High carrier frequency of the 35delG deafness mutation in European populations

Paolo Gasparini, Raquel Rabionet, Guido Barbujani et al. · European Journal of Human Genetics · 2000 · 389 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

Chromosome Abnormalities and Genetic Counselling

Karen Brøndum‐Nielsen · European Journal of Human Genetics · 2004 · 184 citations · Full text

Reproductive Genetic Counseling, Infertility, Cytogenetics +6

A 10‐year survey, 1980–1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by fish analysis. Outcome and follow‐up of 14 cases diagnosed in a series of 12 699 prenatal samples

Karen Brøndum‐Nielsen, Margareta Mikkelsen · Prenatal Diagnosis · 1995 · 147 citations