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| De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ... Nature genetics 44 (4), 440-444, 2012 | 310 | 2012 |
| Human chromosome 7: DNA sequence and biology SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ... Science 300 (5620), 767-772, 2003 | 276 | 2003 |
| Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia L Feuk, A Kalervo, M Lipsanen-Nyman, J Skaug, K Nakabayashi, ... The American Journal of Human Genetics 79 (5), 965-972, 2006 | 246 | 2006 |
| Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ... The American Journal of Human Genetics 90 (2), 308-313, 2012 | 197 | 2012 |
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| Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants L Pizzo, M Jensen, A Polyak, JA Rosenfeld, K Mannik, A Krishnan, ... Genetics in Medicine 21 (4), 816-825, 2019 | 168 | 2019 |
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| De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ... The American Journal of Human Genetics 96 (3), 462-473, 2015 | 144 | 2015 |
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| Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure ABP van KUILENBURG, D Dobritzsch, R Meinsma, J Haasjes, ... Biochemical journal 364 (1), 157-163, 2002 | 141 | 2002 |
| A dyadic approach to the delineation of diagnostic entities in clinical genomics LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ... The American Journal of Human Genetics 108 (1), 8-15, 2021 | 125 | 2021 |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 121 | 2020 |
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