Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

Por Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M B Carvalho, James R Lupski, Elfride De Baere
Publicado em 2013-01-01

Clinical and Genetic Characterization of Upper Extremity Anomalies in Robinow Syndrome

Por Jeffrey Trost, MD, Amjed Abu-Ghname, MD, Matthew J. Davis, BS, Nicholas Cen, BS, Diana M. Guillen, PA-C, Vernon Reid Sutton, MD, Claudia M.B. Carvalho, PhD, Renata Maricevich, MD
Publicado em 2020-09-01

Mechanisms for Complex Chromosomal Insertions.

Por Shen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, Bo Yuan, Mitchell L Cooper, Maria A Magriñá, Carlos A Bacino, Seema R Lalani, Amy M Breman, Janice L Smith, Ankita Patel, Rodger H Song, Weimin Bi, Sau Wai Cheung, Claudia M B Carvalho, Paweł Stankiewicz, James R Lupski
Publicado em 2016-11-01

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

Por Carolina J Jorgez, Jill A Rosenfeld, Nathan R Wilken, Hima V Vangapandu, Aysegul Sahin, Dung Pham, Claudia M B Carvalho, Anne Bandholz, Amanda Miller, David D Weaver, Barbara Burton, Deepti Babu, John S Bamforth, Timothy Wilks, Daniel P Flynn, Elizabeth Roeder, Ankita Patel, Sau W Cheung, James R Lupski, Dolores J Lamb
Publicado em 2014-01-01

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell...

Por Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M. B. Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson
Publicado em 2019-11-01

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

Por Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Weisheng Chen, Zeynep Coban Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Sen Liu, Jiaqi Liu, Yixin Chen, Yuzhi Zuo, Xu Yang, Tianshu Sun, Xin‐Zhuang Yang, Yuchen Niu, Xiaoxin Li, Wesley You, Bintao Qiu, Chen Ding, Pengfei Liu, Shuyang Zhang, Claudia M. B. Carvalho, Jennifer E. Posey, Guixing Qiu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, James R. Lupski, Zhihong Wu, Jianguo Zhang, Nan Wu
Publicado em 2020-01-01