A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis SS Strautnieks, LN Bull, AS Knisely, SA Kocoshis, N Dahl, H Arnell, ... Nature genetics 20 (3), 233-238, 1998 | 1193 | 1998 |
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia N Draptchinskaia, P Gustavsson, B Andersson, M Pettersson, TN Willig, ... Nature genetics 21 (2), 169-175, 1999 | 990 | 1999 |
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast J Laporte, LJ Hu, C Kretz, JL Mandel, P Kioschis, JF Coy, SM Klauck, ... Nature genetics 13 (2), 175-182, 1996 | 716 | 1996 |
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) C Klein, M Grudzien, G Appaswamy, M Germeshausen, I Sandrock, ... Nature genetics 39 (1), 86-92, 2007 | 593 | 2007 |
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference A Vlachos, S Ball, N Dahl, BP Alter, S Sheth, U Ramenghi, J Meerpohl, ... British journal of haematology 142 (6), 859-876, 2008 | 565* | 2008 |
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, ... Annals of Neurology: Official Journal of the American Neurological …, 1999 | 493 | 1999 |
The origin of the major cystic fibrosis mutation (ΔF508) in European populations N Morral, J Bertranpetit, X Estivill, V Nunes, T Casals, J Gimenez, A Reis, ... Nature genetics 7 (2), 169-175, 1994 | 470 | 1994 |
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12. 3: the first 2,253 cases F Rousseau, D Heitz, J Tarleton, J MacPherson, H Malmgren, N Dahl, ... American journal of human genetics 55 (2), 225, 1994 | 372 | 1994 |
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1) M Lagerström, N Dahl, Y Nakahori, Y Nakagome, B Bäckman, ... Genomics 10 (4), 971-975, 1991 | 319 | 1991 |
The 2588G→ C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with … A Maugeri, MA van Driel, DJR van de Pol, BJ Klevering, FJJ van Haren, ... The American Journal of Human Genetics 64 (4), 1024-1035, 1999 | 316 | 1999 |
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression TN Willig, N Draptchinskaia, I Dianzani, S Ball, C Niemeyer, U Ramenghi, ... Blood, The Journal of the American Society of Hematology 94 (12), 4294-4306, 1999 | 281 | 1999 |
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor T Carling, E Szabo, M Bai, P Ridefelt, G Westin, P Gustavsson, S Trivedi, ... The Journal of Clinical Endocrinology & Metabolism 85 (5), 2042-2047, 2000 | 258 | 2000 |
The ribosomal basis of Diamond‐Blackfan Anemia: mutation and database update I Boria, E Garelli, HT Gazda, A Aspesi, P Quarello, E Pavesi, D Ferrante, ... Human mutation 31 (12), 1269-1279, 2010 | 251 | 2010 |
The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q. H Arnell, K Hjälmås, M Jägervall, G Läckgren, A Stenberg, B Bengtsson, ... Journal of medical genetics 34 (5), 360-365, 1997 | 247 | 1997 |
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain RJ Gibbons, S Bachoo, DJ Picketts, S Aftimos, B Asenbauer, JA Bergoffen, ... Nature genetics 17 (2), 146-148, 1997 | 233 | 1997 |
Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. S Håkansson, O Johannsson, U Johansson, G Sellberg, N Loman, ... American journal of human genetics 60 (5), 1068, 1997 | 224 | 1997 |
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes B Bergendal, J Klar, C Stecksén‐Blicks, J Norderyd, N Dahl American Journal of Medical Genetics Part A 155 (7), 1616-1622, 2011 | 205 | 2011 |
Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome ML Bondeson, N Dahl, H Malmgren, WJ Kleijer, T Tönnesen, BM Carlberg, ... Human molecular genetics 4 (4), 615-621, 1995 | 203 | 1995 |
Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4 YJM de Kok, ER Vossenaar, CWRJ Cremers, N Dahl, J Laporte, L Jia Hu, ... Human molecular genetics 5 (9), 1229-1235, 1996 | 200 | 1996 |
Alpha-cardiac actin mutations produce atrial septal defects H Matsson, J Eason, CS Bookwalter, J Klar, P Gustavsson, J Sunnegårdh, ... Human molecular genetics 17 (2), 256-265, 2008 | 193 | 2008 |