| A human phenome-interactome network of protein complexes implicated in genetic disorders K Lage, EO Karlberg, ZM Størling, PI Olason, AG Pedersen, O Rigina, ... Nature biotechnology 25 (3), 309-316, 2007 | 1098 | 2007 |
| Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein J Chelly, Z Tümer, T Tønnesen, A Petterson, Y Ishikawa-Brush, ... Nature genetics 3 (1), 14-19, 1993 | 868 | 1993 |
| Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ... Nat Rev Endocrinol 14 (4), 229-249, 2018 | 552* | 2018 |
| Diagnosis and management of Silver–Russell syndrome: first international consensus statement EL Wakeling, F Brioude, O Lokulo-Sodipe, SM O'Connell, J Salem, J Bliek, ... Nature Reviews Endocrinology 13 (2), 105-124, 2017 | 533 | 2017 |
| Menkes disease Z Tümer, LB Møller European Journal of Human Genetics 18 (5), 511-518, 2010 | 500 | 2010 |
| Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement AD Kline, JF Moss, A Selicorni, AM Bisgaard, MA Deardorff, PM Gillett, ... Nature Reviews Genetics 19 (10), 649-666, 2018 | 397 | 2018 |
| Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations Z Tümer, D Bach-Holm European Journal of Human Genetics 17 (12), 1527-1539, 2009 | 321 | 2009 |
| Cornelia de Lange syndrome MI Boyle, C Jespersgaard, K Brøndum‐Nielsen, AM Bisgaard, Z Tümer Clinical genetics 88 (1), 1-12, 2015 | 216 | 2015 |
| Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci T Eggermann, G Perez de Nanclares, ER Maher, IK Temple, Z Tümer, ... Clinical epigenetics 7, 1-18, 2015 | 204 | 2015 |
| Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly RS Møller, S Kübart, M Hoeltzenbein, B Heye, I Vogel, CP Hansen, ... The American Journal of Human Genetics 82 (5), 1165-1170, 2008 | 203 | 2008 |
| Early treatment of Menkes disease with parenteral Cooper‐Histidine: Long‐term follow‐up of four treated patients J Christodoulou, DM Danks, B Sarkar, KE Baerlocher, R Casey, N Horn, ... American journal of medical genetics 76 (2), 154-164, 1998 | 185 | 1998 |
| High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease F Erdogan, LA Larsen, L Zhang, Z Tümer, N Tommerup, W Chen, ... Journal of medical genetics 45 (11), 704-709, 2008 | 175 | 2008 |
| An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome Z Tümer Human mutation 34 (3), 417-429, 2013 | 166 | 2013 |
| Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome LB Møller, Z Tümer, C Lund, C Petersen, T Cole, R Hanusch, J Seidel, ... The American Journal of Human Genetics 66 (4), 1211-1220, 2000 | 154 | 2000 |
| Transient p53 suppression increases reprogramming of human fibroblasts without affecting apoptosis and DNA damage MA Rasmussen, B Holst, Z Tümer, MG Johnsen, S Zhou, TC Stummann, ... Stem cell reports 3 (3), 404-413, 2014 | 143 | 2014 |
| Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 LP Jakobsen, R Ullmann, SB Christensen, KE Jensen, K Mølsted, ... Journal of medical genetics 44 (6), 381-386, 2007 | 143 | 2007 |
| Genetic anticipation in Behçet’s syndrome I Fresko, M Soy, V Hamuryudan, S Yurdakul, Ş Yavuz, Z Tümer, H Yazici Annals of the rheumatic diseases 57 (1), 45-48, 1998 | 132 | 1998 |
| Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy C Jespersgaard, M Fang, M Bertelsen, X Dang, H Jensen, Y Chen, ... Scientific reports 9 (1), 1219, 2019 | 129 | 2019 |
| Phenotypes and genotypes in individuals with SMC1A variants S Huisman, PA Mulder, E Redeker, I Bader, AM Bisgaard, A Brooks, ... American journal of medical genetics Part A 173 (8), 2108-2125, 2017 | 122 | 2017 |
| Menkes disease: recent advances and new aspects. Z Tümer, N Horn Journal of medical genetics 34 (4), 265, 1997 | 119 | 1997 |
