Search Results - "Chan, Georgia C."

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project by Best, Sunayna, Lord, Jenny, Roche, Matthew, Watson, Christopher M, Poulter, James A, Bevers, Roel P J, Stuckey, Alex, Szymanska, Katarzyna, Ellingford, Jamie M, Carmichael, Jenny, Brittain, Helen, Toomes, Carmel, Inglehearn, Chris, Johnson, Colin A, Wheway, Gabrielle

“…Primary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the 'cell's antenna'. The 100,000 Genomes Project was…”
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Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease by Sadeghi-Alavijeh, Omid, Chan, Melanie M Y, Moochhala, Shabbir H, Howles, Sarah, Gale, Daniel P, Böckenhauer, Detlef

“…Urinary stone disease (USD) is a major health burden affecting over 10% of the United Kingdom population. While stone disease is associated with lifestyle,…”
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Variable skeletal phenotypes associated with biallelic variants in PRKG2 by Pagnamenta, Alistair T, Diaz-Gonzalez, Francisca, Banos-Pinero, Benito, Ferla, Matteo P, Toosi, Mehran B, Calder, Alistair D, Karimiani, Ehsan G, Doosti, Mohammad, Wainwright, Andrew, Wordsworth, Paul, Bailey, Kathryn, Ejeskär, Katarina, Lester, Tracy, Maroofian, Reza, Heath, Karen E, Tajsharghi, Homa, Shears, Deborah, Taylor, Jenny C

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A founder UMOD variant is a common cause of hereditary nephropathy in the British population by Valluru, Manoj K, Chung, Noelle Kx, Gilchrist, Mark, Butland, Laura, Cook, Jackie, Takou, Anna, Dixit, Abhijit, Weedon, Michael N, Ong, Albert C M

“…Monogenic disorders are estimated to account for 10%-12% of patients with kidney failure. We report the unexpected finding of an unusual uromodulin variant in…”
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Genomic loci susceptible to systematic sequencing bias in clinical whole genomes by Freeman, Timothy M, Wang, Dennis, Harris, Jason

“…Accurate massively parallel sequencing (MPS) of genetic variants is key to many areas of science and medicine, such as cataloging population genetic variation…”
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