Author details

Full Name

Andrew C Edmondson

Affiliation

ORCID

Career Start Year

2003

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37224763	Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.		2023
37597336	Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.	Mol Genet Metab	2023
37580177	Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.	Brief Bioinform	2023
37628636	Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.	Genes (Basel)	2023
36651831	Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.	J Inherit Metab Dis	2023
37011002	Thymine Hyperexcretion in a Patient with Abnormal Newborn Screen for Glutaric Aciduria Type I.		2023
37257447	Tracer metabolomics reveals the role of aldose reductase in glycosylation.		2023
36930724	Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.		2023
35300924	Expanding the phenotypic spectrum of ARCN1-related syndrome.	Genet Med	2022
35642503	Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.	Pediatrics	2022
35491370	Patient-reported outcomes and quality of life in PMM2-CDG.	Molecular Genetics and Metabolism	2022
35682409	A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation.	International Journal of Environmental Research and Public Health	2022
35665995	A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.	American Journal of Medical Genetics, Part A	2022
35780510	A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic.	Clin Chem	2022
35716054	ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.	J Inherit Metab Dis	2022
35466195	Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.	International Journal of Neonatal Screening	2022
34584669	Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation.	Clinical Liver Disease	2021
33632285	Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.	Orphanet J Rare Dis	2021
33583022	Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.	J Inherit Metab Dis	2021
34113002	PIGG variant pathogenicity assessment reveals characteristic features within 19 families.	Genet Med	2021
33734437	ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.	J Inherit Metab Dis	2021
34143952	Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.	Am J Hum Genet	2021
34140212	Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?	Mol Genet Metab	2021
33197557	X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder.	Neurobiology of Disease	2021
32681750	International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.	J Inherit Metab Dis	2021
33413482	Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.	Orphanet J Rare Dis	2021
34652821	Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.	Annals of Neurology	2021
32103184	Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.	Genet Med	2020
32293671	Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.	Brain	2020
30770376	Increased Clinical Sensitivity and Specificity of Plasma Protein <i>N</i>-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.	Clin Chem	2019
30097611	Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".	Genet Med	2019
29907798	Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.	Genet Med	2019
30982613	The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.	American Journal of Human Genetics	2019
27067077	Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.	JIMD Reports	2017
28777481	A human case of SLC35A3-related skeletal dysplasia.	Am J Med Genet A	2017
27508872	Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.	Cell Metab	2016
27302097	Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.	Am J Med Genet A	2016
26920905	ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.	JIMD Reports	2016
27568880	Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.	Am J Med Genet A	2016
27617124	Overgrowth Syndromes.	Journal of Pediatric Genetics	2015
25730767	Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.	Nat Genet	2015
26035505	An 8-year-old girl with abdominal pain and mental status changes.	Pediatric Emergency Care	2015
26033833	Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.	Am J Med Genet A	2015
21933777	A Gaussian copula approach for the analysis of secondary phenotypes in case-control genetic association studies.	Biostatistics	2012
22479202	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	PLoS Genet	2012
22751103	Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism.	J Clin Invest	2012
22174694	Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol.	PLoS Genetics	2011
22303337	Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation.	Front Genet	2011
21303902	Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.	Circ Cardiovasc Genet	2011
20924406	Gene-based interaction analysis by incorporating external linkage disequilibrium information.	Eur J Hum Genet	2011