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Christopher T Sullivan

Explore the profile of Christopher T Sullivan including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 5
Citations 620
Followers 0
Related Specialties
Genetics
General Medicine
Science
Top 10 Co-Authors
Jean-Baptiste Riviere
William B Dobyns
Jay Shendure
Brian J ORoak
Karen W Gripp
Grazia M S Mancini
Susan L Christian
Chuan He
Jill A Rosenfeld
Christian Gilissen
Published In
Nat Genet
Nature
JAMA Intern Med
PLoS Genet
Affiliations
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Recent Articles
1.
The Diagnostic Cascade of Incidental Findings: A Teachable Moment
Nguyen L, Sullivan C, Makam A
JAMA Intern Med . 2015 May; 175(7):1089-90. PMID: 25938592
No abstract available.
2.
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria
Sajan S, Fernandez L, Esmaeeli Nieh S, Rider E, Bukshpun P, Wakahiro M, et al.
PLoS Genet . 2013 Oct; 9(10):e1003823. PMID: 24098143
Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV)...
3.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Riviere J, Mirzaa G, ORoak B, Beddaoui M, Alcantara D, Conway R, et al.
Nat Genet . 2012 Jun; 44(8):934-40. PMID: 22729224
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features. We performed exome sequencing in 3 families with MCAP...
4.
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Riviere J, van Bon B, Hoischen A, Kholmanskikh S, ORoak B, Gilissen C, et al.
Nat Genet . 2012 Feb; 44(4):440-4, S1-2. PMID: 22366783
Brain malformations are individually rare but collectively common causes of developmental disabilities. Many forms of malformation occur sporadically and are associated with reduced reproductive fitness, pointing to a causative role...
5.
Crystal structures of DNA/RNA repair enzymes AlkB and ABH2 bound to dsDNA
Yang C, Yi C, Duguid E, Sullivan C, Jian X, Rice P, et al.
Nature . 2008 Apr; 452(7190):961-5. PMID: 18432238
Escherichia coli AlkB and its human homologues ABH2 and ABH3 repair DNA/RNA base lesions by using a direct oxidative dealkylation mechanism. ABH2 has the primary role of guarding mammalian genomes...