by Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Published in Orphanet journal of rare diseases (17.09.2012)

by Huang, Lijia, Warman-Chardon, Jodi, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Published in Orphanet journal of rare diseases (29.03.2022)

by Weaving, Linda S., Christodoulou, John, Williamson, Sarah L., Friend, Kathie L., McKenzie, Olivia L.D., Archer, Hayley, Evans, Julie, Clarke, Angus, Pelka, Gregory J., Tam, Patrick P.L., Watson, Catherine, Lahooti, Hooshang, Ellaway, Carolyn J., Bennetts, Bruce, Leonard, Helen, Gécz, Jozef
Published in American journal of human genetics (01.12.2004)

by Jolley, Alexandra, McGregor, Lesley, Waters, Wendy, Friend, Kathie, Nicholl, Jillian, Yu, Sui
Published in Pathology (2013)

by Buiting, Karin, Dittrich, Bärbel, Groß, Stephanie, Lich, Christina, Färber, Claudia, Buchholz, Tina, Smith, Ellie, Reis, André, Bürger, Joachim, Nöthen, Markus M., Barth-Witte, Ulli, Janssen, Bart, Abeliovich, Dvorah, Lerer, Israela, van den Ouweland, Ans M.W., Halley, Dicky J.J., Schrander-Stumpel, Connie, Smeets, Hubert, Meinecke, Peter, Malcolm, Sue, Gardner, Anne, Lalande, Marc, Nicholls, Robert D., Friend, Kathie, Schulze, Astrid, Matthijs, Gert, Kokkonen, Hannaleena, Hilbert, Pascale, Van Maldergem, Lionel, Glover, Guillermo, Carbonell, Pablo, Willems, Patrick, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard
Published in American journal of human genetics (01.07.1998)