| Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility C Liu, C Tu, L Wang, H Wu, BJ Houston, FK Mastrorosa, W Zhang, Y Shen, ... The American Journal of Human Genetics 108 (2), 309-323, 2021 | 85 | 2021 |
| Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular OG Izuogu, AA Alhasan, C Mellough, J Collin, R Gallon, J Hyslop, ... BMC genomics 19, 1-18, 2018 | 50 | 2018 |
| A de novo paradigm for male infertility MS Oud, RM Smits, HE Smith, FK Mastrorosa, GS Holt, BJ Houston, ... Nature communications 13 (1), 154, 2022 | 49 | 2022 |
| Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders MS Oud, BJ Houston, L Volozonoka, FK Mastrorosa, GS Holt, ... Human Reproduction 36 (9), 2597-2611, 2021 | 37 | 2021 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 28 | 2023 |
| Applications of long-read sequencing to Mendelian genetics FK Mastrorosa, DE Miller, EE Eichler Genome Medicine 15 (1), 42, 2023 | 24 | 2023 |
| Genetics of Male Infertility Initiative (GEMINI) consortium MS Oud, RM Smits, HE Smith, FK Mastrorosa, GS Holt, BJ Houston, ... Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A …, 2022 | 7 | 2022 |
| The Role of Copy Number Variants in Severe Idiopathic Male Infertility FK Mastrorosa Newcastle University, 2021 | 1 | 2021 |
| Complete chromosome 21 centromere sequences from a Down syndrome family reveal size asymmetry and differences in kinetochore attachment FK Mastrorosa, AN Rozanski, WT Harvey, J Knuth, G Garcia, KM Munson, ... bioRxiv, 2024.02. 25.581464, 2024 | | 2024 |
| Maternally inherited copy-number variations may explain cases of severe idiopathic male infertility FK Mastrorosa, MJ Xavier, A Mikulasova, MS Oud, RM Smith, G Astuti, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 157-157, 2020 | | 2020 |
| Detection of de novo copy-number variations from exome sequencing of 108 infertile patient-parents trios FK Mastrorosa, MJ Xavier, A Mikulasova, MS Oud, RM Smits, G Astuti, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1190-1190, 2019 | | 2019 |
