Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis

by Meena Balasubramanian, Emma Hobson, Mars Skae, Janine McCaughey, David J. Stephens
Published 2019-12-01

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

by Tomoo Ogi, Sarah Walker, Tom Stiff, Emma Hobson, Siripan Limsirichaikul, Gillian Carpenter, Katrina Prescott, Mohnish Suri, Philip J Byrd, Michiko Matsuse, Norisato Mitsutake, Yuka Nakazawa, Pradeep Vasudevan, Margaret Barrow, Grant S Stewart, A Malcolm R Taylor, Mark O'Driscoll, Penny A Jeggo
Published 2012-01-01