D. Gleason

发表

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.

Developmental and Degenerative Features in a Complicated Spastic Paraplegia

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

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

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

CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

C. Walsh, F. Alkuraya, R. Hill, 2014, Cell reports.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

C. Walsh, A. Barkovich, S. Tinschert, 2010, American journal of human genetics.

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Athar N. Malik, C. Walsh, L. Zon, 2012, Nature Genetics.

Ethnically diverse causes of Walker‐Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

C. Walsh, W. Dobyns, Karen R Schmidt, 2008, Human mutation.

Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort

C. Walsh, G. Shaw, A. Barkovich, 2010, 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.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

S. Tinschert, G. Mochida, J. Partlow, 2010, American journal of human genetics.