| Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 T Wagner, J Wirth, J Meyer, B Zabel, M Held, J Zimmer, J Pasantes, ... Cell 79 (6), 1111-1120, 1994 | 1796 | 1994 |
| Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9 J Wirth, T Wagner, J Meyer, RA Pfeiffer, HU Tietze, W Schempp, ... Human genetics 97, 186-193, 1996 | 111 | 1996 |
| Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and … J Wirth, HG Nothwang, S Van der Maarel, C Menzel, G Borck, ... Journal of medical genetics 36 (4), 271-278, 1999 | 107 | 1999 |
| Mouse Dac, a novel nuclear factor with homology to Drosophila dachshund shows a dynamic expression in the neural crest, the eye, the neocortex, and the limb bud X Caubit, R Thangarajah, T Theil, J Wirth, HG Nothwang, U Rüther, ... Developmental dynamics: an official publication of the American Association …, 1999 | 93 | 1999 |
| A translocation breakpoint cluster disrupts the newly defined 3′ end of the SNURF-SNRPN transcription unit on chromosome 15 J Wirth, E Back, A Hüttenhofer, HG Nothwang, C Lich, S Groß, C Menzel, ... Human Molecular Genetics 10 (3), 201-210, 2001 | 88 | 2001 |
| Clinical and molecular‐cytogenetic studies in seven patients with ring chromosome 18 P Stankiewicz, I Brozek, Z Hélias‐Rodzewicz, J Wierzba, J Pilch, E Bocian, ... American journal of medical genetics 101 (3), 226-239, 2001 | 77 | 2001 |
| Clinical and molecular‐cytogenetic studies in seven patients with ring chromosome 18 P Stankiewicz, I Brozek, Z Hélias‐Rodzewicz, J Wierzba, J Pilch, E Bocian, ... American journal of medical genetics 101 (3), 226-239, 2001 | 77 | 2001 |
| A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E PG Maass, J Wirth, A Aydin, A Rump, S Stricker, S Tinschert, M Otero, ... Human molecular genetics 19 (5), 848-860, 2010 | 71 | 2010 |
| Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3–CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain HG Nothwang, HG Kim, J Aoki, M Geisterfer, S Kübart, RD Wegner, ... Human molecular genetics 10 (8), 797-806, 2001 | 66 | 2001 |
| High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes M Kirchhoff, H Rose, J Maahr, T Gerdes, M Bugge, N Tommerup, Z Tümer, ... European Journal of Human Genetics 8 (9), 661-668, 2000 | 62 | 2000 |
| Microgeographic Variation, Habitat Effects and Individual Signature Cues in Calls of Chiffchaffs Phylloscopus collybita canarensis M Naguib, K Hammerschmidt, J Wirth Ethology 107 (4), 341-355, 2001 | 54 | 2001 |
| Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review A Heller, J Seidel, A Hübler, H Starke, V Beensen, G Senger, M Rocchi, ... Journal of medical genetics 37 (7), 529-532, 2000 | 50 | 2000 |
| Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and … K Kingsley, J Wirth, S van Der Maarel, S Freier, HH Ropers, T Haaf Cytogenetic and Genome Research 78 (1), 12-19, 1997 | 42 | 1997 |
| Mild phenotype in two unrelated patients with a partial deletion of 21q22. 2‐q22. 3 defined by FISH and molecular studies D Ehling, I Kennerknecht, A Junge, B Prager, R Exeler, B Behre, J Horst, ... American Journal of Medical Genetics Part A 131 (3), 265-372, 2004 | 37 | 2004 |
| SOX20, a new member of the SOX gene family, is located on chromosome 17p13 J Meyer, J Wirth, M Held, W Schempp, G Scherer Cytogenetic and Genome Research 72 (2-3), 246-249, 1996 | 34 | 1996 |
| Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma. M Stumm, A Koch, PF Wieacker, C Phillip, F Steinbach, EP Allhoff, ... Cancer genetics and cytogenetics 115 (1), 82-85, 1999 | 27 | 1999 |
| Molecular cytogenetic characterisation of a complex 46, XY, t (7; 8; 11; 13) chromosome rearrangement in a patient with Moebius syndrome G Borck, J Wirth, T Hardt, H Tönnies, K Brøndum-Nielsen, M Bugge, ... Journal of medical genetics 38 (2), 117-121, 2001 | 26 | 2001 |
| Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome A Silahtaroglu, FA Hol, PKA Jensen, M Erdel, HC Duba, M Geurds, ... European Journal of Human Genetics 7 (1), 68-76, 1999 | 22 | 1999 |
| Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes M Vollmer, M Kremer, R Ruf, S Miot, HG Nothwang, J Wirth, E Otto, ... Genomics 68 (2), 127-135, 2000 | 21 | 2000 |
| Nail patella syndrome in a cytogenetically balanced t (9; 17)(q34. 1; q25) carrier HC Duba, M Erdel, J Löffler, J Wirth, B Utermann, G Utermann European Journal of Human Genetics 6 (1), 75-79, 1998 | 20 | 1998 |
Niels TommerupProfessor in Medical Genetics, University of CopenhagenVerified email at sund.ku.dk
