C. Walsh

发表

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

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

Pheochromocytoma and multiple intracerebral aneurysms.

S. Shinnar, L. Berlad, P. Saenger, 1986, The Journal of pediatrics.

Bilateral periventricular heterotopias in an X‐linked dominant transmission in a family with two affected males

P. Brugières, S. Amselem, M. Gerard-Blanluet, 2006, American journal of medical genetics. Part A.

Genomic and phenotypic delineation of congenital microcephaly

C. Walsh, F. Alkuraya, S. Arold, 2018, Genetics in Medicine.

Filamin B mutations cause chondrocyte defects in skeletal development.

A. Boskey, V. Sheen, C. Walsh, 2007, Human molecular genetics.

Mutation in PQBP1 is associated with periventricular heterotopia

V. Kimonis, A. Torres, V. Sheen, 2010, American journal of medical genetics. Part A.

Periventricular nodular heterotopia and Williams syndrome

R. J. Ferland, V. Sheen, C. Walsh, 2006, American journal of medical genetics. Part A.

Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: Insights into the cause of periventricular heterotopia

R. Folkerth, G. Tiao, V. Sheen, 2006, The Journal of comparative neurology.

Posterior Fossa in Primary Microcephaly: Relationships between Forebrain and Mid-Hindbrain Size in 110 Patients

G. Mochida, J. Barkovich, C. Walsh, 2013, Neuropediatrics.

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

I. Scheffer, C. Walsh, P. Huttenlocher, 1996, Neuron.

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

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

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

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

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

Michael E. Coulter, C. Walsh, S. Wiemann, 2017, Genome research.

COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans

C. Walsh, D. Dilworth, W. Dobyns, 2011, PLoS genetics.

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

N W Wood, F Andermann, S M Sisodiya, 2001, Human molecular genetics.

Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings

I. Scheffer, C. Walsh, P. Huttenlocher, 2000, Pediatric Radiology.

Congenital Microcephaly with a Simplified Gyral Pattern: Associated Findings and Their Significance

A. Barkovich, A. Poduri, M. Salih, 2011, American Journal of Neuroradiology.

Periventricular heterotopia associated with chromosome 5p anomalies

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

X-linked malformations of neuronal migration

D. Ledbetter, C. Walsh, M. Ross, 1996, Neurology.

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.

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

C. Walsh, G. Gascon, F. Alkuraya, 2011, American journal of human genetics.

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.

I. Scheffer, D. Ledbetter, C. Walsh, 1997, Human molecular genetics.

Developmental and Degenerative Features in a Complicated Spastic Paraplegia

C. Walsh, A. LaMantia, T. Maynard, 2009, Annals of neurology.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

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

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

G. Gascon, F. Alkuraya, R. Hill, 2011, American journal of human genetics.

Mutation in PQBP1 is associated with periventricular heterotopia

V. Kimonis, A. Torres, V. Sheen, 2010, American journal of medical genetics. Part A.

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

I. Scheffer, C. Walsh, Bai-Lin Wu, 2012, Epilepsia.