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Author/Creator Bluske, Krista

1. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). Issue 7 (1st May 2021)

Authors:
Rosano, Kristen K.; Wegner, Daniel J.; Shinawi, Marwan; Baldridge, Dustin; Bucelli, Robert C.; Dahiya, Sonika; White, Frances V.; Willing, Marcia C.; McAllister, William; Taft, Ryan J.; Bluske, Krista; Buchanan, Amanda; Cole, Francis Sessions; Wambach, Jennifer A.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 7(2021)
Page Start:
2190
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing. Issue 9 (7th June 2022)

Authors:
Makay, Prince; Mubungu, Gerrye; Mupuala, Aimée; Bluske, Krista; Brown, Carolyn; Schmidt, Sarah A.; Ngole, Mamy; Fuanani, Patrick; Perry, Denise L.; Lukusa, Prosper; Devriendt, Koenraad; Taft, Ryan J.; Lumaka, Aimé
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 9(2022)
Page Start:
2825
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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