Items where Author is "Raggio, Cathy"

Alankarage, Dimuthu and Enriquez, Annabelle and Steiner, Robert D. and Raggio, Cathy and Higgins, Megan and Milnes, Di and Humphreys, David T. and Duncan, Emma L. and Sparrow, Duncan B. and Giampietro, Philip F. and Chapman, Gavin and Dunwoodie, Sally L. (2022) Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors. Differentiation, 128. pp.1-12. ISSN 03014681

Martin, Ella M M A and Enriquez, Annabelle and Sparrow, Duncan B and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Duncan, Emma L and Iyer, Kavitha R and Greasby, Joelene A and Ip, Eddie and Giannoulatou, Eleni and Sheng, Delicia and Wohler, Elizabeth and Dimartino, Clémantine and Amiel, Jeanne and Capri, Yline and Lehalle, Daphné and Mory, Adi and Wilnai, Yael and Lebenthal, Yael and Gharavi, Ali G and Krzemień, Grażyna G and Miklaszewska, Monika and Steiner, Robert D and Raggio, Cathy and Blank, Robert and Baris Feldman, Hagit and Milo Rasouly, Hila and Sobreira, Nara L M and Jobling, Rebekah and Gordon, Christopher T and Giampietro, Philip F and Dunwoodie, Sally L and Chapman, Gavin (2020) Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human Molecular Genetics, 29 (22). pp.3662-3678. ISSN 0964-6906

Al Dhaheri, Noura and Wu, Nan and Zhao, Sen and Wu, Zhihong and Blank, Robert D. and Zhang, Jianguo and Raggio, Cathy and Halanski, Matthew and Shen, Jianxiong and Noonan, Ken and Qiu, Guixing and Nemeth, Blaise and Sund, Sarah and Dunwoodie, Sally L. and Chapman, Gavin and Glurich, Ingrid and Steiner, Robert D. and Wohler, Elizabeth and Martin, Renan and Sobreira, Nara Lygia and Giampietro, Philip F. (2020) KIAA1217 : A novel candidate gene associated with isolated and syndromic vertebral malformations. American Journal of Medical Genetics Part A. ISSN 1552-4825

Giampietro, Philip F and Pourquie, Olivier and Raggio, Cathy and Ikegawa, Shiro and Turnpenny, Peter D and Gray, Ryan and Dunwoodie, Sally L and Gurnett, Christina A and Alman, Benjamin and Cheung, Kenneth and Kusumi, Kenro and Hadley-Miller, Nancy and Wise, Carol A (2018) Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 176 (1). pp.253-256. ISSN 1552-4833 (Not OA)