| FinnGen provides genetic insights from a well-phenotyped isolated population MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, KM Donner, ... Nature 613 (7944), 508-518, 2023 | 1072* | 2023 |
| Rare coding variants in ten genes confer substantial risk for schizophrenia T Singh, T Poterba, D Curtis, H Akil, M Al Eissa, JD Barchas, N Bass, ... Nature 604 (7906), 509-516, 2022 | 403 | 2022 |
| STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ... Neurology 86 (10), 954-962, 2016 | 308 | 2016 |
| De novo variants in neurodevelopmental disorders with epilepsy HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ... Nature genetics 50 (7), 1048-1053, 2018 | 263 | 2018 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 230 | 2019 |
| GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ... Journal of medical genetics 54 (7), 460-470, 2017 | 222 | 2017 |
| Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ... Neurology 86 (23), 2171-2178, 2016 | 183 | 2016 |
| GRIN2A-related disorders: genotype and functional consequence predict phenotype V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ... Brain 142 (1), 80-92, 2019 | 173 | 2019 |
| Adipose tissue derived bacteria are associated with inflammation in obesity and type 2 diabetes L Massier, R Chakaroun, S Tabei, A Crane, KD Didt, J Fallmann, ... Gut 69 (10), 1796-1806, 2020 | 154 | 2020 |
| Neolithic and medieval virus genomes reveal complex evolution of hepatitis B B Krause-Kyora, J Susat, FM Key, D Kühnert, E Bosse, A Immel, C Rinne, ... Elife 7, e36666, 2018 | 128 | 2018 |
| Widely used commercial ELISA does not detect precursor of haptoglobin2, but recognizes properdin as a potential second member of the zonulin family L Scheffler, A Crane, H Heyne, A Tönjes, D Schleinitz, CH Ihling, ... Frontiers in endocrinology 9, 22, 2018 | 120 | 2018 |
| Predicting functional effects of missense variants in voltage-gated sodium and calcium channels HO Heyne, D Baez-Nieto, S Iqbal, DS Palmer, A Brunklaus, P May, ... Science translational medicine 12 (556), eaay6848, 2020 | 98 | 2020 |
| Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ... Brain 145 (9), 2991-3009, 2022 | 82 | 2022 |
| Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy S Syrbe, FL Harms, E Parrini, M Montomoli, U Mütze, KL Helbig, T Polster, ... Brain 140 (9), 2322-2336, 2017 | 80 | 2017 |
| Paternal-age-related de novo mutations and risk for five disorders JL Taylor, JCPG Debost, SU Morton, EM Wigdor, HO Heyne, D Lal, ... Nature Communications 10 (1), 3043, 2019 | 78 | 2019 |
| Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants S Iqbal, E Pérez-Palma, JB Jespersen, P May, D Hoksza, HO Heyne, ... Proceedings of the National Academy of Sciences 117 (45), 28201-28211, 2020 | 77* | 2020 |
| Biological concepts in human sodium channel epilepsies and their relevance in clinical practice A Brunklaus, J Du, F Steckler, II Ghanty, KM Johannesen, CD Fenger, ... Epilepsia 61 (3), 387-399, 2020 | 75 | 2020 |
| Genetic influences on brain gene expression in rats selected for tameness and aggression HO Heyne, S Lautenschläger, R Nelson, F Besnier, M Rotival, A Cagan, ... Genetics 198 (3), 1277-1290, 2014 | 72 | 2014 |
| Identification of pathogenic variant enriched regions across genes and gene families E Pérez-Palma, P May, S Iqbal, LM Niestroj, J Du, HO Heyne, ... Genome Research 30 (1), 62-71, 2020 | 56 | 2020 |
| Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy HO Heyne, M Artomov, F Battke, C Bianchini, DR Smith, N Liebmann, ... Genetics in Medicine 21 (11), 2496-2503, 2019 | 53 | 2019 |
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteEmail verificata su atgu.mgh.harvard.edu
