Research output per year
Research output per year
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Dive into the research topics where Leigh Demain is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency
Newman, W., Clayton, P., Demain, L. & Metcalfe, K., 5 May 2022, (Accepted/In press) In: Reproductive BioMedicine Online.Research output: Contribution to journal › Article › peer-review
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A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak
McDermott, J. H., Stoddard, D., Woolf, P. J., Ellingford, J. M., Gokhale, D., Taylor, A., Demain, L. A. M., Newman, W. G. & Black, G., 1 May 2021, In: The Journal of molecular diagnostics : JMD. 23, 5, p. 532-540 9 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency
Newman, W., O'Keefe, R., Demain, L., Beaman, G., O'Sullivan, J., Edgerley, J. J., Miles, E. K., Busby, G. & Fitzgerald, C., 16 Jul 2021, (E-pub ahead of print) In: Reproductive BioMedicine Online.Research output: Contribution to journal › Article › peer-review
Open AccessFile12 Downloads (Pure) -
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Hochberg, I., Demain, L., Richer, J., Thompson, K., Urquhart, J., Rea, A., Pagarkar, W., Rodriguez-Palmero, A., Beaman, G., O'Sullivan, J., Williams, S., Bhaskar, S., O'Keefe, R., Newman, W. & Munro, K., 28 Oct 2021, In: American Journal of Human Genetics. 108, 11, p. 2195-2204 10 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile51 Downloads (Pure) -
A Non-Adaptive Combinatorial Group Testing Strategy to Facilitate Healthcare Worker Screening During the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak
McDermott, J. H., Stoddard, D., Woolf, P., Ellingford, J. M., Gokhale, D., Taylor, A., Demain, L. AM., Newman, W. G. & Black, G., 30 Jul 2020, In: medRxiv.Research output: Contribution to journal › Article › peer-review
Open Access
Thesis
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IDENTIFYING GENETIC VARIANTS IMPLICATED IN PERRAULT SYNDROME FOR IMPROVED HEARING LOSS DIAGNOSIS AND THERAPEUTICS
Author: Demain, L., 31 Dec 2017Supervisor: O'Keefe, R. (Supervisor) & Newman, W. (Supervisor)
Student thesis: Phd
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