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Pediatric Neurology|May 29, 2012
Novel clinical features in pontine tegmental cap dysplasiaLaura I Rudaks, Sandeep Patel, Christopher P BarnettJournal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|February 27, 2014
Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signalingShannon K LeBlanc, Deepa Taranath, Scott Morris, et al.European Journal of Human Genetics : EJHG|January 27, 2011
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?Christopher P Barnett, David Chitayat, Timothy J Bradley, et al.Pediatric Neurology|August 10, 2011
Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4Laura I Rudaks, Lynette Moore, Karen L Shand, et al.The Journal of Pediatrics|February 19, 2021
New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 DeficiencyJessica A Eldredge, Michael R Couper, Christopher P Barnett, et al.Pediatric Cardiology|March 1, 2012
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type IaLaura I Rudaks, Chad Andersen, T Y Khong, et al.American Journal of Medical Genetics. Part A|August 3, 2016
Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fracturesApril Crawford, Lynette Moore, Gregory Bennett, et al.Clinical Genetics|August 9, 2025
Evaluating the Clinical Utility of Genomic Sequencing After Perinatal DeathCamille M Schubert, Matilda R Jackson, Christopher P Barnett, et al.American Journal of Medical Genetics. Part A|November 22, 2012
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1Christopher P Barnett, Justin J Mencel, Jozef Gecz, et al.Molecular Vision|August 10, 2018
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophyEmmanuelle Souzeau, Jennifer A Thompson, Terri L McLaren, et al.Pageof 4