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| Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 156 | 2020 |
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| Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging E Flex, S Martinelli, A Van Dijck, A Ciolfi, S Cecchetti, E Coluzzi, ... The American Journal of Human Genetics 105 (3), 493-508, 2019 | 68 | 2019 |
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| Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes K Schmitz-Abe, Q Li, SM Rosen, N Nori, JA Madden, CA Genetti, ... European Journal of Human Genetics 27 (9), 1398-1405, 2019 | 64 | 2019 |
| Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectual disability with either autism or cerebellar ataxia C Guissart, X Latypova, P Rollier, TN Khan, H Stamberger, K McWalter, ... The American Journal of Human Genetics 102 (5), 744-759, 2018 | 61 | 2018 |
| CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum EDH Konrad, N Nardini, A Caliebe, I Nagel, D Young, G Horvath, ... Genetics in Medicine 21 (12), 2723-2733, 2019 | 60 | 2019 |
| Infant mortality: the contribution of genetic disorders MH Wojcik, TS Schwartz, KE Thiele, H Paterson, R Stadelmaier, ... Journal of Perinatology 39 (12), 1611-1619, 2019 | 55 | 2019 |
| Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ... Science advances 6 (49), eabc9207, 2020 | 52 | 2020 |
| A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability VM Pravata, M Gundogdu, SG Bartual, AT Ferenbach, M Stavridis, ... FEBS letters 594 (4), 717-727, 2020 | 48 | 2020 |
| Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures M Zweier, A Begemann, K McWalter, MT Cho, L Abela, S Banka, ... European Journal of Human Genetics 27 (5), 747-759, 2019 | 48 | 2019 |
| Reduced amylin levels are associated with low bone mineral density in women with anorexia nervosa MH Wojcik, E Meenaghan, EA Lawson, M Misra, A Klibanski, KK Miller Bone 46 (3), 796-800, 2010 | 48 | 2010 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 47 | 2022 |
| De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder LS Blok, T Kleefstra, H Venselaar, S Maas, HY Kroes, AMA Lachmeijer, ... The American Journal of Human Genetics 105 (2), 403-412, 2019 | 42 | 2019 |
| POLRMT mutations impair mitochondrial transcription causing neurological disease M Oláhová, B Peter, Z Szilagyi, H Diaz-Maldonado, M Singh, ... Nature communications 12 (1), 1135, 2021 | 31 | 2021 |
| A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016 M Yakoreva, T Kahre, R Žordania, K Reinson, R Teek, V Tillmann, A Peet, ... European Journal of Human Genetics 27 (11), 1649-1658, 2019 | 30 | 2019 |
| Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype P Zanoni, K Steindl, D Sengupta, P Joset, A Bahr, H Sticht, ... Genetics in Medicine 23 (8), 1474-1483, 2021 | 29 | 2021 |
