Authors:
Boland, Elena
Clayton-Smith, Jill
Woo, Victoria G.
McKee, Shane
Manson, Forbes D.C.
Medne, Livija
Zackai, Elaine
Swanson, Eric A.
Fitzpatrick, David
Millen,Kathleen J.
Sherr, Elliott H.
Dobyns, William B
Black, Graeme C.M.
Citation: Boland, Elena et al., Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum, American journal of human genetics , 81(2), 2007, pp. 292-303
Authors:
Clayton-Smith, Jill
O'Sullivan, James
Daly, Sarah
Bhaskar, Sanjeev
Citation: Clayton-smith, Jill et al., Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome, American journal of human genetics (Online) AJHG , 89(5), 2011, pp. 675-681
Authors:
Hammond, Peter
Hutton, Tim J.
Allanson, Judith E.
Buxton, Bernard
Campbell, Linda E.
Clayton-Smith, Jill
Donnai, Dian
Karmiloff-Smith, Annette
Metcalfe, Kay
Murphy, Kieran C.
Patton, Michal
Pober, Barbara
Prescott, Katrina
Scambler, Pete
Shaw, Adam
Smith, Ann C.M.
Stevens, Angela F.
Temple, Karen I.
Hennekam, Raoul
Tassabehji, May
Citation: Hammond, Peter et al., Discriminating Power of Localized Three-Dimensional Facial Morphology, American journal of human genetics , 77(6), 2005, pp. 999-1010
Authors:
Kolehmainen, Juha
Black, Graeme C.M.
Saarinen, Anne
Chandler, Kate
Clayton-Smith, Jill
Träskelin, Ann-Liz
Perveen, Rahat
Kivitie-Kallio, Satu
Norio, Reijo
Warburg, Mette
Fryns, Jean-Pierre
de la Chapelle, Albert
Lehesjoki, Anna-Elina
Citation: Kolehmainen, Juha et al., Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport, American journal of human genetics , 72(6), 2003, pp. 1359-1369