Search Results - "Noon, Fallon"

Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth by Seed, Emma, Noon, Fallon, Milnes, Di, Roscioli, Tony, Kristensen, Karl, Ellwood, David, DaSilva Costa, Fabricio

“…Fetal arthrogryposis is a well‐recognised ultrasonographic phenotype, caused by both genetic, maternal and extrinsic factors. When present with fetal growth…”
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Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries by Huynh, Aimee, E Gray, Paul, Sullivan, Anna, Mackie, Joseph, Guerin, Antoine, Rao, Geetha, Pathmanandavel, Karrnan, Della Mina, Erika, Hollway, Georgina, Hobbs, Matthew, Enthoven, Karen, O’Young, Patrick, McManus, Sam, H. Wainwright, Luke, Higgins, Megan, Noon, Fallon, Wong, Melanie, Bastard, Paul, Zhang, Qian, Casanova, Jean-Laurent, Hsiao, Kuang-Chih, Pinzon-Charry, Alberto, S Ma, Cindy, G. Tangye, Stuart

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A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries by Huynh, Aimee, Gray, Paul E, Sullivan, Anna, Mackie, Joseph, Guerin, Antoine, Rao, Geetha, Pathmanandavel, Karrnan, Mina, Erika Della, Hollway, Georgina, Hobbs, Matthew, Enthoven, Karen, O’Young, Patrick, McManus, Sam, Wainwright, Luke H., Higgins, Megan, Noon, Fallon, Wong, Melanie, Bastard, Paul, Zhang, Qian, Casanova, Jean-Laurent, Hsiao, Kuang-Chih, Pinzon-Charry, Alberto, Ma, Cindy S, Tangye, Stuart G.

“…Advanced genomic technologies such as whole exome or whole genome sequencing have improved diagnoses and disease outcomes for individuals with genetic…”
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