LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this conditi...

by Lesley Hart, Anita Rauch, Antony M. Carr, Joris R. Vermeesch, Mark O’Driscoll
Published 2014-05-01

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.

by Emily Outwin, Gillian Carpenter, Weimin Bi, Marjorie A Withers, James R Lupski, Mark O'Driscoll
Published 2011-08-01

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

by Tom Stiff, Meryem Alagoz, Diana Alcantara, Emily Outwin, Han G Brunner, Ernie M H F Bongers, Mark O'Driscoll, Penny A Jeggo
Published 2013-01-01

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