Elizabeth Roeder

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 627 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +7

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Marwan Shinawi, P. Liu, Sung Hae L. Kang et al. · Journal of Medical Genetics · 2009 · 593 citations

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

Stephen Brown, Dorothy Warburton, Lucia Brown et al. · Nature Genetics · 1998 · 521 citations

Biology, Developmental Biology, Developmental Genetics +7

Loss-of-function mutations in the human <i>GLI2</i> gene are associated with pituitary anomalies and holoprosencephaly-like features

Erich Roessler, Yangzhu Du, José L. Mullor et al. · Proceedings of the National Academy of Sciences · 2003 · 344 citations · Full text

Genetics, Molecular Genetics, Disease Gene Identification +18

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

Zhishuo Ou, Jonathan S. Berg, Hagith Yonath et al. · Genetics in Medicine · 2008 · 220 citations · Full text