A. Bodell

发表

Mutation in Filamin A Causes Periventricular Heterotopia, Developmental Regression, and West Syndrome in Males

A. Sakamoto, E. Yacubian, E. Garzon, 2006, Epilepsia.

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

C. Walsh, M. Crosier, R. Hill, 2009, American journal of human genetics.

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

Riaz Ahmed, C. Walsh, A. Barkovich, 2006, American journal of medical genetics. Part A.

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

C. Walsh, A. Barkovich, M. Topcu, 2010, Nature Genetics.

Genotype–phenotype analysis of human frontoparietal polymicrogyria syndromes

A. Barkovich, M. Topcu, W. Dobyns, 2005, Annals of neurology.

Periventricular heterotopia with complete agenesis of the corpus callosum

C. Walsh, V. Sheen, J. Neal, 2006, Journal of Neurology.

ASPM mutations identified in patients with primary microcephaly and seizures

C. Walsh, C. Woods, G. Mochida, 2005, Journal of Medical Genetics.

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

C. Walsh, Y. Shugart, M. Ruvolo, 2004, Nature Genetics.

Periventricular heterotopia associated with chromosome 5p anomalies

C. Walsh, S. Packman, O. Glenn, 2003, Neurology.

A 2‐Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

C. Walsh, W. Sellers, L. Garraway, 2007, American journal of medical genetics. Part A.

microcephaly and seizures mutations identified in patients with primary ASPM

C. Walsh, C. Woods, G. Mochida, 2005 .

Mutations in POMT1 are found in a minority of patients with Walker–Warburg syndrome

C. Walsh, L. Lagae, G. Enns, 2005, American journal of medical genetics. Part A.

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.

C. Walsh, A. Barkovich, F. Hisama, 2013, Journal of child neurology.

Comprehensive EMX2 genotyping of a large schizencephaly case series

G. Shaw, A. Barkovich, I. Tietjen, 2007, American journal of medical genetics. Part A.

G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

William B. Dobyns, A. James Barkovich, Bernard S. Chang, 2004, Science.

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21

C. Walsh, P. Grant, Y. Shugart, 2003, Neurology.

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

Eric M. Morrow, Soher Balkhy, Christopher A. Walsh, 2008, Science.

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

I. Scheffer, C. Walsh, Y. Shugart, 2004, Brain and Development.

mutations COH1 due to Broader geographical spectrum of Cohen syndrome

K. Kosaki, A. Bodell, P. Sarda, 2005 .

Broader geographical spectrum of Cohen syndrome due to COH1 mutations

C. Walsh, K. Kosaki, G. Mochida, 2004, Journal of Medical Genetics.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Josemir W Sander, C. Walsh, P. Striano, 2006, Brain : a journal of neurology.

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

J. Lupski, C. Broeckhoven, E. Nelis, 1996, Neuron.

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

C. Walsh, P. Grant, Y. Shugart, 2004, Nature Genetics.

A structural basis for reading fluency: White matter defects in a genetic brain malformation

D Alsop, C. Walsh, Tianming Liu, 2007, Neurology.

Desbuquois syndrome: clinical, radiographic, and morphologic characterization.

D. Rimoin, H. Gruber, M. Shohat, 1994, American journal of medical genetics.

Bilateral generalized polymicrogyria (BGP)

A J Barkovich, I. Scheffer, C. Walsh, 2004, Neurology.

Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16

P Ellen Grant, Thomas Voit, William B Dobyns, 2003, Annals of neurology.

Autosomal recessive form of periventricular heterotopia

C. Walsh, Y. Shugart, S. Berkovic, 2003, Neurology.

Mutations in ARFGEF 2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

C. Walsh, P. Grant, Y. Shugart, 2022 .

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

C. Walsh, Ming-Hui Chen, S. Robertson, 2005, Neurology.

Response: Filamin A, Periventricular Nodular Heterotopia, and West Syndrome

C. Walsh, A. Sakamoto, R. Hill, 2006 .

Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia

C. Walsh, A. Galaburda, D. Hackney, 2005, Neurology.

Corrigendum: Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

C. Walsh, Y. Shugart, M. Ruvolo, 2004, Nature Genetics.