| Identification of a variant associated with adult-type hypolactasia NS Enattah, T Sahi, E Savilahti, JD Terwilliger, L Peltonen, I Järvelä Nature genetics 30 (2), 233-237, 2002 | 1437 | 2002 |
| Isolation of a novel gene underlying Batten disease (CLN3) T Consortium Cell 82 (6), 949-957, 1995 | 586* | 1995 |
| Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders CS Leblond, J Heinrich, R Delorme, C Proepper, C Betancur, G Huguet, ... PLoS genetics 8 (2), e1002521, 2012 | 481 | 2012 |
| A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27 M Auranen, R Vanhala, T Varilo, K Ayers, E Kempas, T Ylisaukko-Oja, ... The American Journal of Human Genetics 71 (4), 777-790, 2002 | 317 | 2002 |
| Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein M Laine, H Jarva, S Seitsonen, K Haapasalo, MJ Lehtinen, N Lindeman, ... The Journal of Immunology 178 (6), 3831-3836, 2007 | 296 | 2007 |
| A genetic test which can be used to diagnose adult-type hypolactasia in children H Rasinperä, E Savilahti, NS Enattah, M Kuokkanen, N Tötterman, ... Gut 53 (11), 1571-1576, 2004 | 271 | 2004 |
| Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia M Kuokkanen, NS Enattah, A Oksanen, E Savilahti, A Orpana, I Järvelä Gut 52 (5), 647-652, 2003 | 258 | 2003 |
| Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs) JM Holopainen, J Saarikoski, PKJ Kinnunen, I Järvelä European Journal of Biochemistry 268 (22), 5851-5856, 2001 | 244 | 2001 |
| Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease I Järvelä, M Sainio, T Rantamäki, VM Olkkonen, O Carpén, L Peltonen, ... Human molecular genetics 7 (1), 85-90, 1998 | 226 | 1998 |
| Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21–23 JD Sharp, RB Wheeler, BD Lake, M Savukoski, IE Järvelä, L Peltonen, ... Human molecular genetics 6 (4), 591-595, 1997 | 220 | 1997 |
| Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans NS Enattah, A Trudeau, V Pimenoff, L Maiuri, S Auricchio, L Greco, ... The american journal of human genetics 81 (3), 615-625, 2007 | 219 | 2007 |
| Musical aptitude is associated with AVPR1A-haplotypes LT Ukkola, P Onkamo, P Raijas, K Karma, I Järvelä PLoS One 4 (5), e5534, 2009 | 207 | 2009 |
| Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families T Ylisaukko‐oja, M Alarcón, RM Cantor, M Auranen, R Vanhala, ... Annals of neurology 59 (1), 145-155, 2006 | 199 | 2006 |
| Analysis of four neuroligin genes as candidates for autism T Ylisaukko-oja, K Rehnström, M Auranen, R Vanhala, R Alen, E Kempas, ... European Journal of Human Genetics 13 (12), 1285-1292, 2005 | 194 | 2005 |
| Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway K Luiro, K Yliannala, L Ahtiainen, H Maunu, I Järvelä, A Kyttälä, A Jalanko Human molecular genetics 13 (23), 3017-3027, 2004 | 192 | 2004 |
| A heterogeneity-based genome search meta-analysis for autism-spectrum disorders TA Trikalinos, A Karvouni, E Zintzaras, T Ylisaukko-oja, L Peltonen, ... Molecular psychiatry 11 (1), 29-36, 2006 | 168 | 2006 |
| Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1 I Järvelä, J Schleutker, L Haataja, P Santavuori, L Puhakka, T Manninen, ... Genomics 9 (1), 170-173, 1991 | 158 | 1991 |
| Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency M Kuokkanen, J Kokkonen, NS Enattah, T Ylisaukko-Oja, H Komu, ... The American Journal of Human Genetics 78 (2), 339-344, 2006 | 157 | 2006 |
| Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) I Järvelä, M Lehtovirta, R Tikkanen, A Kyttälä, A Jalanko Human molecular genetics 8 (6), 1091-1098, 1999 | 150 | 1999 |
| Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci T Aung, M Ozaki, MC Lee, U Schlötzer-Schrehardt, G Thorleifsson, ... Nature genetics 49 (7), 993-1004, 2017 | 145 | 2017 |
Nabil EnattahBiotechnology Research Center, Tripoli, Libya & University of Tripoli, LibyaVerified email at uot.edu.ly
