Parents
Sign in to add mentor| Jonathan K. Pritchard | grad student | 2007 | Chicago | |
| (Measurement and analysis of copy number variation in the human genome.) | ||||
BETA: Related publications
See more...
Publications
|
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
| 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 |
| Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, et al. (2020) Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Human Genetics |
| Bustamante-Marin XM, Horani A, Stoyanova M, et al. (2020) Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. Plos Genetics. 16: e1008691 |
| Krausz C, Riera-Escamilla A, Moreno-Mendoza D, et al. (2020) Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Wyrwoll MJ, Temel ŞG, Nagirnaja L, et al. (2020) Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. American Journal of Human Genetics |
| Houston BJ, Conrad DF, O'Bryan MK. (2020) A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse. Human Genetics |
| Bustamante-Marin XM, Shapiro A, Sears PR, et al. (2019) Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. Journal of Human Genetics |
| Lee AS, Rusch J, Lima AC, et al. (2019) Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. Nature Communications. 10: 4626 |