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List of works by Gerard Berry

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Survival after treatment with phenylacetate and benzoate for urea-cycle disorders

scientific article published in May 2007
Exploring concordance and discordance for return of incidental findings from clinical sequencing

scientific article published on 15 March 2012
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

scientific article
Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study

scientific article
Copy number variation plays an important role in clinical epilepsy

scientific article published on 13 June 2014
Transcription of the sodium/myo-inositol cotransporter gene is regulated by multiple tonicity-responsive enhancers spread over 50 kilobase pairs in the 5'-flanking region

scientific article
Phenylketonuria Scientific Review Conference: state of the science and future research needs

scientific article published on 6 March 2014
Targeted exome sequencing of suspected mitochondrial disorders

scientific article published on 17 April 2013
The adult galactosemic phenotype

scientific article published on 21 July 2011
Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

scientific article published on 01 December 1988
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation

scientific article
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia

scientific article published on 01 October 1995
Bumetanide Enhances Phenobarbital Efficacy in a Rat Model of Hypoxic Neonatal Seizures

scientific article published on March 11, 2013
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

scientific article (publication date: 2002)
Glycogen synthase kinase-3 is essential for β-arrestin-2 complex formation and lithium-sensitive behaviors in mice

scientific article
Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea

scientific journal article
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

scientific article (publication date: August 2006)
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

scientific article
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

scientific article
A syndrome of congenital hyperinsulinism and hyperammonemia

scientific article published in April 1997
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency

scientific article
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

scientific article published on 27 March 2012
Intellectual outcome in children with maple syrup urine disease

scientific article published in July 1991
Epimerase-deficiency galactosemia is not a binary condition

scientific article
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

scientific article published on 28 March 2013
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis

scientific article published on November 2003
KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability

scientific article (publication date: 4 March 2014)
Phosphoinositide deficiency due to inositol depletion is not a mechanism of lithium action in brain

scientific article published in May 2004
The role of polyols in the pathophysiology of hypergalactosemia

scientific article published on January 1, 1995
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency

scientific article published in October 2001
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation

scientific article published on 2 February 2012
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations

scientific article
Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

scientific article published on 01 July 1991
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

scientific article
Is prenatal myo‐inositol deficiency a mechanism of CNS injury in galactosemia?

scientific article published on January 19, 2011
Galactose metabolism and health

scientific article published on July 2015
High-performance liquid chromatography of phospholipids with UV detection: optimization of separations on silica

scientific article published on 01 October 1981
Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue

scientific article published on 19 February 2011
Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome

scientific article published in June 1995
Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of [...]

scientific journal article
Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene

scientific article published in April 2001
Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet

scientific journal article
Knockout mice in understanding the mechanism of action of lithium

scientific article published in October 2009
SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behavior

scientific journal article
Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney

scientific article published on 28 May 2014
Galactosemia: when is it a newborn screening emergency?

scientific article published on 21 March 2012
Inositol-related gene knockouts mimic lithium's effect on mitochondrial function

scientific article published on 08 August 2013
Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy

scientific article
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia

scientific article
The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter

scientific article

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