Alejandro Sifrim (David Moore)

Publication Activity (10 Years)

Years Active: 2017-2021
Publications (10 Years): 3

Top Topics

Pluripotent Stem Cells

Transcription Factor

Intellectual Disability

Top Venues

Molecular genetics & genomic medicine

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Joshua Mark Hodgson, Lidia Ruiz-Llorente, Jamie McDonald, Oliver W J Quarrell, Kelechi Ugonna, James Bentham, Rebecca Mason, Jennifer M Martin, Alejandro Sifrim, Katie Bergstrom, Pinar Bayrak-Toydemir, Whitney L Wooderchak-Donahue, Nicholas W Morrell, Robin Condliffe, Carmelo Bernabéu, Paul D Upton
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children. Molecular genetics & genomic medicine (2021)
Martin A M Reijns, Louise Thompson, Juan Carlos Acosta, Holly A Black, Francisco J Sanchez-Luque, Austin Diamond, David A Parry, Alison Daniels, Marie O'Shea, Carolina Uggenti, Maria C Sanchez, Alan O'Callaghan, Michelle L L McNab, Martyna Adamowicz, Graeme R Grimes, Toby Hurd, Edward J Jarman, Frederic Li Mow Chee, Jacqueline K Rainger, Marion Walker, Camilla Drake, Dasa Longman, Christine Mordstein, Sophie J Warlow, Stewart McKay, Louise Slater, Morad Ansari, Ian P M Tomlinson, Alejandro Sifrim, Nadine Wilkinson, Jill Shepherd, Kate Templeton, Ingolfur Johannessen, Christine Tait-Burkard, Jürgen G Haas, Nick Gilbert, Ian R Adams, Andrew P Jackson
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection. PLoS biology 18 (12) (2020)
Hemant Bengani, Mark Handley, Mohsan Alvi, Christoffer Nellåker, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, Ann Nordgren, M Kvarnung, Sarju Mehta, Sarju G Mehta, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, null null, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Alejandro Sifrim, Matthew E Hurles, Helen V Firth, F Lucy Raymond, F Lucy Raymond, Christoffer Nellåker, null Ddd Study, David R FitzPatrick
Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in medicine : official journal of the American College of Medical Genetics 19 (8) (2017)