Publications by authors named "Alison Brebner"

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Prevalence and predictors of mortality in gastroschisis: a population-based study of 4803 cases in the USA.
Alison Brebner, Nicholas Czuzoj-Shulman, Haim Arie Abenhaim

J Matern Fetal Neonatal Med· May 2020

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Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Alison Brebner

Nat Commun· February 2018

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APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Alison Brebner

Nat Commun· January 2018

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Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Anita M Quintana, Hung-Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A Geiger

Hum Mol Genet· August 2017

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High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
Margaret L Illson, Laura Dempsey-Nunez, Jana Kent, Qiuying Huang, Alison Brebner

Mol Genet Metab· March 2014

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An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Hung-Chun Yu, Jennifer L Sloan, Gunter Scharer, Alison Brebner, Anita M Quintana

Am J Hum Genet· September 2013

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A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.
Christine M Armour, Alison Brebner, David Watkins, Michael T Geraghty, Alicia Chan

Pediatrics· July 2013

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High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
Laura Dempsey-Nunez, Margaret L Illson, Jana Kent, Qiuying Huang, Alison Brebner

Mol Genet Metab· November 2012

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