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American Journal of Medical Genetics. Part A|March 18, 2009
Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal refluxNeena L Champaigne, Nicole A Laird, Jill K Northup, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Long-term observation of a patient with dominant omodysplasiaBarbara L Gordon, Neena L Champaigne, R Curtis Rogers, et al.
European Journal of Medical Genetics|October 12, 2021
3-Methylglutaconic aciduria in carriers of primary carnitine deficiencyCatherine A Ziats, William B Burns, Matt L Tedder, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2009
Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residentsAmy Stanford Wells, Hope Northrup, Sharon S Crandell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalusIllja J Diets, Trine Prescott, Neena L Champaigne, et al.
Clinical Case Reports|November 21, 2018
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutationsHannah E Warren, Raymond J Louie, Michael J Friez, et al.
Molecular Genetics and Metabolism|May 5, 2016
New observation of sialuria prompts detection of liver tumor in previously reported patientNeena L Champaigne, Jules G Leroy, Priya S Kishnani, et al.
American Journal of Medical Genetics. Part A|December 5, 2012
Clinical utility of the X-chromosome arrayYuri A Zarate, Alka Dwivedi, Frank O Bartel, et al.
Annals of Neurology|April 10, 2018
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variantNicolas Chatron, Rikke S Møller, Neena L Champaigne, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
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