Dobyns DBD

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

J. Rivière, B. V. van Bon, A. Hoischen, et al.. (2012). Nature genetics. Cited 286 times. https://doi.org/10.1038/ng.1091

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

F. Kortüm, Soma Das, M. Flindt, et al.. (2011). Journal of Medical Genetics. Cited 252 times. https://doi.org/10.1136/jmg.2010.087528

Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

G. Mirzaa, R. Conway, K. Gripp, et al.. (2012). American Journal of Medical Genetics Part A. Cited 213 times. https://doi.org/10.1002/ajmg.a.34402

Genetic and biologic classification of infantile spasms.

A. Paciorkowski, L. Thio, W. Dobyns. (2011). Pediatric neurology. Cited 166 times. https://doi.org/10.1016/j.pediatrneurol.2011.08.010

Phenotypic spectrum associated with CASK loss-of-function mutations

U. Moog, K. Kutsche, F. Kortüm, et al.. (2011). Journal of Medical Genetics. Cited 128 times. https://doi.org/10.1136/jmedgenet-2011-100218

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.

J. Ramer, A. Lin, W. Dobyns, et al.. (1995). American journal of medical genetics. Cited 90 times. https://doi.org/10.1002/AJMG.1320570308

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

A. Paciorkowski, L. Thio, J. Rosenfeld, et al.. (2011). European Journal of Human Genetics. Cited 84 times. https://doi.org/10.1038/ejhg.2011.121

Polymicrogyria Includes Fusion of the Molecular Layer and Decreased Neuronal Populations But Normal Cortical Laminar Organization

A. Judkins, D. Martinez, Pamela Ferreira, et al.. (2011). Journal of Neuropathology and Experimental Neurology. Cited 57 times. https://doi.org/10.1097/NEN.0b013e31821ccf1c

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene

Nathan C. Osbun, Jiang Li, M. O'Driscoll, et al.. (2011). American Journal of Medical Genetics Part A. Cited 44 times. https://doi.org/10.1002/ajmg.a.34081

New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

M. Zaki, G. A. Salam, S. Saleem, et al.. (2011). American Journal of Medical Genetics. Part a. Cited 7 times. https://doi.org/10.1002/ajmg.a.34078