A. Edmondson

发表

Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

Mark I. McCarthy, Deborah A. Nickerson, Xiaowu Gai, 2008, PloS one.

Characterization of a mitochondrially targeted single-stranded DNA-binding protein in Arabidopsis thaliana

A. Maxwell, B. Nielsen, D. McClellan, 2005, Molecular Genetics and Genomics.

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.

Jennifer A. Salant, C. Ficicioglu, A. Edmondson, 2016, JIMD reports.

Biochemical genetic disorders

M. Bennett, A. Edmondson, 2021 .

X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder

E. Marsh, D. Coulter, Zhaolan Zhou, 2020, Neurobiology of Disease.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

H. Freeze, F. Tort, Christina Lam, 2020, Journal of inherited metabolic disease.

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

F. Scaglia, K. Õunap, M. He, 2020, Genetics in Medicine.

Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism.

D. Rader, S. Kathiresan, A. Tall, 2012, The Journal of clinical investigation.

Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.

Xueli Li, M. He, M. Bennett, 2019, Clinical chemistry.

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

U. Lichter-Konecki, J. DiPerna, C. Ficicioglu, 2022, International journal of neonatal screening.

Gene-based interaction analysis by incorporating external linkage disequilibrium information

Jing He, Chun Li, Kai Wang, 2010, European Journal of Human Genetics.

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

M. Patterson, H. Plotkin, Christina Lam, 2021, Molecular genetics and metabolism.

Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

E. Zackai, G. Matherne, J. Krier, 2016, American journal of medical genetics. Part A.

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

Zhe Zhang, Ryuichiro Nakato, Matthew C Dulik, 2015, Nature Genetics.

A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation

J. Jaeken, C. de Freitas, D. Marques-da-Silva, 2022, International journal of environmental research and public health.

Abstract 2077: A Novel GWAS Atherosclerosis Locus Regulates Plasma Levels of CXCL12

Mingyao Li, A. Khera, M. Reilly, 2009 .

Overgrowth Syndromes

J. Kalish, A. Edmondson, 2015, Journal of Pediatric Genetics.

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

D. Cassiman, C. Thiel, P. Vermeersch, 2019, American journal of human genetics.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ Report of seven new subjects and review of the literature

Undiagnosed Diseases Network, E. Eklund, Manuela Pendziwiat, 2020 .

ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines

H. Freeze, Christina Lam, L. Wolfe, 2022, Journal of inherited metabolic disease.

Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids

Tanya M. Teslovich, Y. J. Kim, M. Rieder, 2010, Nature.

An Arabidopsis homologue of bacterial RecA that complements an E. coli recA deletion is targeted to plant mitochondria

B. Nielsen, A. Edmondson, F. Khazi, 2003, Molecular Genetics and Genomics.

Mining the LIPG Allelic Spectrum Reveals the Contribution of Rare and Common Regulatory Variants to HDL Cholesterol

Mingyao Li, D. Rader, S. Kathiresan, 2011, PLoS genetics.

Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.

Christopher D. Brown, D. Rader, S. Kathiresan, 2016, Cell metabolism.

Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.

E. Rimm, Mingyao Li, M. Reilly, 2009, The Journal of clinical investigation.

Dense Genotyping of Candidate Gene Loci Identifies Variants Associated With High-Density Lipoprotein Cholesterol

Nilesh J Samani, Barbara Thorand, Muredach P Reilly, 2011, Circulation. Cardiovascular genetics.

A Gaussian copula approach for the analysis of secondary phenotypes in case-control genetic association studies.

Hongzhe Li, Jing He, Mingyao Li, 2012, Biostatistics.

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

H. Freeze, K. Bilguvar, J. Christodoulou, 2021, Journal of inherited metabolic disease.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

D. Rader, G. Rubboli, R. Møller, 2020, Brain : a journal of neurology.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

S. Antonarakis, S. Ellard, R. Truty, 2021, Genetics in Medicine.

A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis[S]

Mingyao Li, M. Reilly, D. Rader, 2009, Journal of Lipid Research.

The T111I variant in the endothelial lipase gene and risk of coronary heart disease in three independent populations.

E. Rimm, D. Rader, U. Vogel, 2009, European heart journal.

Genome-wide approaches to finding novel genes for lipid traits: the start of a long road.

D. Rader, A. Edmondson, 2008, Circulation. Cardiovascular genetics.

Long‐term outcomes in ALG13‐Congenital Disorder of Glycosylation

B. Pletcher, E. Morava, T. Kozicz, 2023, American journal of medical genetics. Part A.

Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation

H. Hakonarson, Kai Wang, Mingyao Li, 2011, Front. Gene..

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Rebecca C. Spillmann, Undiagnosed Diseases Network, E. Eklund, 2020, Journal of inherited metabolic disease.

Kabuki syndrome as a cause of non‐immune fetal hydrops/ascites

E. Zackai, A. Edmondson, Ashleigh Long, 2016, American journal of medical genetics. Part A.

Fetal akinesia deformation sequence due to a congenital disorder of glycosylation

E. Zackai, J. Ganesh, R. Ganetzky, 2015, American journal of medical genetics. Part A.

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

E. Zackai, I. Krantz, R. Ganetzky, 2022, Pediatrics.

Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications

E. Perlstein, Christina Lam, D. Cassiman, 2021, Annals of neurology.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

A human case of SLC35A3‐related skeletal dysplasia

E. Zackai, M. Deardorff, E. Bedoukian, 2017, American journal of medical genetics. Part A.

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

R. Ganetzky, M. Deardorff, M. Bennett, 2016, JIMD reports.

Bi-allelic variants in the ER quality control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

E. Zackai, D. Rader, S. Ellard, 2021, American journal of human genetics.

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

J. Rosenfeld, D. Nickerson, M. Bamshad, 2021, Journal of inherited metabolic disease.

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

H. Freeze, M. Patterson, Christina Lam, 2021, Orphanet Journal of Rare Diseases.

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.

Christina Lam, E. Morava, T. Kozicz, 2023, Molecular genetics and metabolism.

Tracer metabolomics reveals the role of aldose reductase in glycosylation

Christina Lam, M. Schultz, D. Cassiman, 2023, Cell reports. Medicine.

Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

H. Freeze, Christina Lam, G. Enns, 2023, Journal of inherited metabolic disease.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Patient-reported outcomes and quality of life in PMM2-CDG.

Christina Lam, E. Morava, A. Edmondson, 2022, Molecular genetics and metabolism.

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

Christina Lam, L. Wolfe, E. Morava, 2021, Orphanet Journal of Rare Diseases.

Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals

Karen L. Mohlke, Luigi Ferrucci, Florian Kronenberg, 2012, PLoS genetics.

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

Lan Lin, I. Helbig, Yi Xing, 2023, Briefings Bioinform..

Expanding the phenotypic spectrum of ARCN1-related syndrome.

H. Hakonarson, V. Shashi, B. Krock, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG

E. Morava, J. V. Van Hove, T. Kozicz, 2023, Genes.

An 8-Year-Old Girl With Abdominal Pain and Mental Status Changes

C. Ficicioglu, A. Edmondson, R. Ahrens-Nicklas, 2015, Pediatric emergency care.

Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation

A. Edmondson, Christin Johnsen, 2021, Clinical liver disease.

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

E. Zackai, I. Krantz, Zhe Zhang, 2015, Nature Genetics.

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.

M. He, A. Edmondson, Xinying Hong, 2023, Molecular genetics and metabolism.

A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis[S]

Mingyao Li, M. Reilly, D. Rader, 2009, Journal of Lipid Research.

Dense Genotyping of Candidate Gene Loci Identifies Variants Associated With High-Density Lipoprotein Cholesterol

M. Tobin, Mingyao Li, A. Khera, 2011, Circulation. Cardiovascular genetics.