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Author/Creator Riley, Lisa G

1. Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans. Issue 3 (5th July 2022)

Authors:
Bouasker, Samir; Patel, Nisha; Greenlees, Rebecca; Wellesley, Diana; Fares Taie, Lucas; Almontashiri, Naif A; Baptista, Julia; Alghamdi, Malak Ali; Boissel, Sarah; Martinovic, Jelena; Prokudin, Ivan; Holden, Samantha; Mudhar, Hardeep-Singh; Riley, Lisa G; Nassif, Christina; Attie-Bitach, Tania; M...
Journal:
Journal of medical genetics
Issue:
Volume 60:Issue 3(2023)
Page Start:
294
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. Issue 21 (11th February 2022)

Authors:
Lee, Richard G; Balasubramaniam, Shanti; Stentenbach, Maike; Kralj, Tom; McCubbin, Tim; Padman, Benjamin; Smith, Janine; Riley, Lisa G; Priyadarshi, Archana; Peng, Liuyu; Nuske, Madison R; Webster, Richard; Peacock, Ken; Roberts, Philip; Stark, Zornitza; Lemire, Gabrielle; Ito, Yoko A; Boycott, K...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 21(2022)
Page Start:
3597
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗