Items where authors include "Jenkins, L"

Article

Loong, L, Huntley, C, McRonald, F et al. (48 more authors) (2022) Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records. Journal of Medical Genetics (JMG). ISSN 0022-2593

Suttle, MD, Daly, L, Jones, RH et al. (38 more authors) (2022) The Winchcombe meteorite—A regolith breccia from a rubble pile CM chondrite asteroid. Meteoritics and Planetary Science. ISSN 1086-9379

Aitken, S, Firth, HV, McRae, J et al. (280 more authors) (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105 (5). pp. 933-946. ISSN 0002-9297

Lord, J, McMullan, DJ, Eberhardt, RY et al. (40 more authors) (2019) Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study. Obstetrical & Gynecological Survey, 74 (7). pp. 394-396. ISSN 0029-7828

Lord, J, McMullan, DJ, Eberhardt, RY et al. (40 more authors) (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. The Lancet, 393 (10173). pp. 747-757. ISSN 0140-6736

Shoemark, A, Moya, E, Hirst, RA et al. (34 more authors) (2018) High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax, 73 (2). pp. 157-166. ISSN 0040-6376

McRae, JF, Clayton, S, Fitzgerald, TW et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542. pp. 433-438. ISSN 0028-0836

McRae, JF, Clayton, S, Fitzgerald, TW et al. (298 more authors) (2016) Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study. bioRxiv. (Submitted)