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Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina HZ, Heaton, Robert A, Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria
et al (show 14 more authors) (2022) Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. NPJ GENOMIC MEDICINE, 7 (1). 60-.


Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara
et al (show 499 more authors) (2019) Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. LANCET RESPIRATORY MEDICINE, 7 (3). pp. 227-238.


Farmery, James HR, Smith, Mike L, Lynch, Andy G, Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P, Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan
et al (show 341 more authors) (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018). SCIENTIFIC REPORTS, 8 (1). 13376-.


Ito, Yoko, Carss, Keren J, Duarte, Sofia T, Hartley, Taila, Keren, Boris, Kurian, Manju A, Marey, Isabelle, Charles, Perinne, Mendonca, Carla, Nava, Caroline
et al (show 9 more authors) (2018) <i>De Novo</i> Truncating Mutations in <i>WASF1</i> Cause Intellectual Disability with Seizures. AMERICAN JOURNAL OF HUMAN GENETICS, 103 (1). pp. 144-153.

This list was generated on Mon Feb 26 15:40:31 2024 GMT.