Dr. Gerard Berry, MD

• Genetics

• Pediatrics

*Healthgrades does not verify qualifications for medical specialties. Please verify your provider's specialty and qualifications directly with your provider and applicable medical board.

• Children's Hospital Of Philadelphia, Biochemical Genetics/pediatric Endocrinology

  Fellowship Hospital, 1981

• Thomas Jefferson University Hospital, Pediatrics

  Residency Hospital, 1978

• University Of Notre Dame, Pre-med

  Undergraduate School, 1971

• International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up, 2016-11-17

• N- and O-linked glycosylation of total plasma glycoproteins in galactosemia, 2012-06-12

• Uremic solutes and risk of end stage renal disease in type 2 diabetes, 2014-01-15

• The development of end stage renal disease in two patients with PMM2-CDG, 2022-01-10

• Deletions ofNRXN1(neurexin-1) predispose to a wide spectrum of developmental disorders, 2010-06-05

• KCNQ1, KCNE2, and Na+-Coupled Solute Transporters Form Reciprocally Regulating Complexes that Affect Neuronal Excitability, 2014-03-04

• 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination, 2018-06-15

• Exploring Concordance and Discordance for Return of Incidental Findings from Clinical Sequencing, 2012-03-15

• Impaired fertility and motor function in a zebrafish model for classic galactosemia, 2017-09-14

• Genetic Determinants of Sudden Unexpected Death in Pediatrics, 2022-01-10

• Whole genome sequencing identifiesSCN2Amutation in monozygotic twins with Ohtahara Syndrome and unique neuropathological findings, 2013-03-28

• Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report, 2013-07-14

• Novel founder intronic variant inSLC39A14in two families causing Manganism and potential treatment strategies, 2018-04-06

• Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome, 2021-09-28

• Deletions ofNRXN1(Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders, 2010-04-07

• Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase, 2019-03-14

• Galactose epimerase deficiency: lessons from the GalNet registry, 2022-09-02

• Fertility preservation in female classic galactosemia patients, 2013-07-16

• Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion, 2016-11-12

• Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway, 2020-08-05

• Results from a 78-week single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD), 2018-12-27

• Is X-linked, infantile onsetALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?, 2021-02-11

• KCTD7deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect, 2018-11-08

• Urine Oligosaccharide Screening by MALDI-TOF for the Identification of NGLY1 Deficiency, 2018-03-10

• A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency, 2019-06-17

• Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes, 2012-03-27

• Exome sequencing identifies novel missense and deletion variants inRTN4IP1associated with Optic Atrophy, Global Developmental Delay, Epilepsy, Ataxia, and Choreoathetosis, 2020-10-09

• Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue, 2011-02-19

• Impact of diagnosis and therapy on cognitive function in urea cycle disorders, 2019-05-13

• [ 13C ]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis, 2021-02-03

• Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia, 2018-11-26

• Copy number variation plays an important role in clinical epilepsy, 2014-06-13

• HomozygousPLCB1Deletion Associated with Malignant Migrating Partial Seizures in Infancy, 2012-06-12