| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 755 | 2021 |
| Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 248 | 2022 |
| The developing mouse coronal suture at single-cell resolution DJT Farmer, H Mlcochova, Y Zhou, N Koelling, G Wang, N Ashley, ... Nature Communications 12 (1), 4797, 2021 | 64 | 2021 |
| Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes GJ Maher, HK Ralph, Z Ding, N Koelling, H Mlcochova, E Giannoulatou, ... Genome research 28 (12), 1779-1790, 2018 | 64 | 2018 |
| Genetic variants regulating expression levels and isoform diversity during embryogenesis E Cannavò, N Koelling, D Harnett, D Garfield, FP Casale, L Ciglar, ... Nature 541 (7637), 402-406, 2017 | 63 | 2017 |
| SMAD6 variants in craniosynostosis: genotype and phenotype evaluation E Calpena, A Cuellar, K Bala, SMA Swagemakers, N Koelling, ... Genetics in Medicine 22 (9), 1498-1506, 2020 | 47 | 2020 |
| De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder MRF Reijnders, KA Miller, M Alvi, JAC Goos, MM Lees, A De Burca, ... The American Journal of Human Genetics 102 (6), 1195-1203, 2018 | 47 | 2018 |
| SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues M D’Antonio, JP Nguyen, TD Arthur, H Matsui, BM Neale, M Daly, ... Cell reports 37 (7), 2021 | 30 | 2021 |
| A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis JAC Goos, WK Vogel, H Mlcochova, CJ Millard, E Esfandiari, WH Selman, ... Human Molecular Genetics 28 (15), 2501-2513, 2019 | 28 | 2019 |
| A second update on mapping the human genetic architecture of COVID-19 M Kanai, SJ Andrews, M Cordioli, C Stevens, BM Neale, M Daly, A Ganna, ... Nature 621 (7977), E7-E26, 2023 | 24 | 2023 |
| Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis MJN Sá, KA Miller, M McQuaid, N Koelling, AOM Wilkie, H Wurtele, ... Journal of Medical Genetics 59 (8), 776-780, 2022 | 16 | 2022 |
| Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome Y Zhou, N Koelling, AL Fenwick, SJ McGowan, E Calpena, SA Wall, ... Human mutation 39 (10), 1360-1365, 2018 | 16 | 2018 |
| Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic … M Bernkopf, D Hunt, N Koelling, T Morgan, AL Collins, J Fairhurst, ... Human Mutation 38 (10), 1360-1364, 2017 | 16 | 2017 |
| Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation M Bernkopf, UB Abdullah, SJ Bush, KA Wood, S Ghaffari, E Giannoulatou, ... Nature communications 14 (1), 853, 2023 | 12 | 2023 |
| amplimap: a versatile tool to process and analyze targeted NGS data N Koelling, M Bernkopf, E Calpena, GJ Maher, KA Miller, HK Ralph, ... Bioinformatics 35 (24), 5349-5350, 2019 | 12 | 2019 |
| The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors GJ Maher, M Bernkopf, N Koelling, AOM Wilkie, ML Meistrich, A Goriely Human Reproduction 34 (8), 1404-1415, 2019 | 8 | 2019 |
| Quantitative genetics of gene expression during fruit fly development N Kölling | 2 | 2016 |
| BMP2 or not BMP2? A SMAD6-related question in craniosynostosis E Calpena, A Cuellar, K Bala, SMA Swagemakers, N Koelling, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1277-1278, 2019 | | 2019 |
| Assessing the landscape of selfish de novo mutations in human testes GJ Maher, HK Ralph, Z Ding, N Koelling, H Mlcochova, E Giannoulatou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 825-825, 2019 | | 2019 |
| Erratum to: Mapping the human genetic architecture of COVID-19 (Nature,(2021), 600, 7889,(472-477), 10.1038/s41586-021-03767-x) MEK Niemi, J Karjalainen, RG Liao, BM Neale, M Daly, A Ganna, ... | | |
