Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. AK Ryan, JA Goodship, DI Wilson, N Philip, A Levy, H Seidel, ... Journal of medical genetics 34 (10), 798-804, 1997 | 1328 | 1997 |
Further segregation analysis of the fragile X syndrome with special reference to transmitting males SL Sherman, PA Jacobs, NE Morton, U Froster-Iskenius, ... Human genetics 69, 289-299, 1985 | 677 | 1985 |
High carrier frequency of the 35delG deafness mutation in European populations P Gasparini, R Rabionet, G Barbujani, S Melchionda, M Petersen, ... European Journal of Human Genetics 8 (1), 19-23, 2000 | 545 | 2000 |
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles SL Nolin, WT Brown, A Glicksman, GE Houck Jr, AD Gargano, A Sullivan, ... The American Journal of Human Genetics 72 (2), 454-464, 2003 | 472 | 2003 |
A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p International Molecular Genetic Study of Autism Consortium The American Journal of Human Genetics 69 (3), 570-581, 2001 | 412 | 2001 |
Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries JH Olsen, JM Hahnemann, AL Børresen-Dale, K Brøndum-Nielsen, ... Journal of the National Cancer Institute 93 (2), 121-127, 2001 | 277 | 2001 |
Cornelia de Lange syndrome MI Boyle, C Jespersgaard, K Brøndum‐Nielsen, AM Bisgaard, Z Tümer Clinical genetics 88 (1), 1-12, 2015 | 213 | 2015 |
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families J Vallon-Christersson, C Cayanan, K Haraldsson, N Loman, ... Human molecular genetics 10 (4), 353-360, 2001 | 203 | 2001 |
Developmental arrest of germ cells in the pathogenesis of germ cell neoplasia EWARDE MEYTS, N JØRGENSEN, K BRØNDUM‐NIELSEN, J MÜLLER, ... Apmis 106 (1‐6), 198-206, 1998 | 202 | 1998 |
Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. O Johannsson, EA Ostermeyer, S Håkansson, LS Friedman, U Johansson, ... American journal of human genetics 58 (3), 441, 1996 | 183 | 1996 |
Population-based risk estimates of Wilms tumor in sporadic aniridia: a comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia K Grønskov, JH Olsen, A Sand, W Pedersen, N Carlsen, A Jylling, ... Human genetics 109, 11-18, 2001 | 176 | 2001 |
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish country MB Petersen, K Brondum-Nielsen, LK Hansen, K Wulff American journal of medical genetics 60 (3), 1995 | 168 | 1995 |
Non-disjunction of chromosome 18 M Bugge, A Collins, MB Petersen, J Fisher, C Brandt, J Michael Hertz, ... Human molecular genetics 7 (4), 661-669, 1998 | 158 | 1998 |
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man M Bugge, G Bruun-Petersen, K Brøndum-Nielsen, U Friedrich, J Hansen, ... Journal of medical genetics 37 (11), 858-865, 2000 | 156 | 2000 |
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination WP Robinson, BD Kuchinka, F Bernasconi, MB Petersen, A Schulze, ... Human molecular genetics 7 (6), 1011-1019, 1998 | 152 | 1998 |
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23. 1 K Devriendt, G Matthijs, R Van Dael, M Gewillig, B Eyskens, H Hjalgrim, ... The American Journal of Human Genetics 64 (4), 1119-1126, 1999 | 147 | 1999 |
Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization E Blennow, KB Nielsen, H Telenius, NP Carter, U Kristoffersson, ... American journal of medical genetics 55 (1), 85-94, 1995 | 139 | 1995 |
Clonal Ph-negative hematopoiesis in CML after therapy with imatinib mesylate is frequently characterized by trisomy 8 MK Andersen, J Pedersen-Bjergaard, L Kjeldsen, IH Dufva, ... Leukemia 16 (7), 1390-1393, 2002 | 137 | 2002 |
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype K Grønskov, T Rosenberg, A Sand, K Brøndum-Nielsen European Journal of Human Genetics 7 (3), 274-286, 1999 | 120 | 1999 |
The stress of caregivers. DA Chiriboga, PG Weiler, K Nielsen Journal of Applied Social Sciences, 1988 | 120 | 1988 |