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Sign in to add mentor| Jonathan K. Pritchard | grad student | 2007 | Chicago | |
| (Measurement and analysis of copy number variation in the human genome.) | ||||
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Publications
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| Ansari M, Faour KNW, Shimamura A, et al. (2024) Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. Hgg Advances. 100273 |
| Freudiger A, Jovanovic VM, Huang Y, et al. (2024) Taking identity-by-descent analysis into the wild: Estimating realized relatedness in free-ranging macaques. Biorxiv : the Preprint Server For Biology |
| Khan MR, Akbari A, Nicholas TJ, et al. (2023) Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP. Andrology |
| Ansari M, Faour KNW, Shimamura A, et al. (2023) Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features. Medrxiv : the Preprint Server For Health Sciences |
| Ding X, Singh P, Schimenti K, et al. (2023) In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes. Proceedings of the National Academy of Sciences of the United States of America. 120: e2219925120 |
| Qureshi S, Hardy JJ, Pombar C, et al. (2023) Genomic study of variants: prevalence and allelic heterogeneity in men with spermatogenic failure. Frontiers in Genetics. 14: 1134849 |
| Dicke AK, Pilatz A, Wyrwoll MJ, et al. (2023) DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia. Communications Biology. 6: 350 |
| Nagirnaja L, Lopes AM, Charng WL, et al. (2022) Diverse monogenic subforms of human spermatogenic failure. Nature Communications. 13: 7953 |
| Hardy JJ, Wyrwoll MJ, Mcfadden W, et al. (2021) Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. Human Genetics |
| Laisk T, Soares ALG, Ferreira T, et al. (2020) The genetic architecture of sporadic and multiple consecutive miscarriage. Nature Communications. 11: 5980 |