AndrewCEdmondsonMDPhD

PubMed

• Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.
  Earnest J P Daniel, Yair Argon, Hind Alsharhan, Christina Lam, Hudson H Freeze, Miao He, Andrew C Edmondson> ;Journal of Inherited Metabolic Disease. 2024 Apr 10
• A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
  Kishore Garapati, Rohit Budhraja, Mayank Saraswat, Jinyong Kim, Neha Joshi, Gunveen S Sachdeva, Anu Jain, Anna N Ligezka, Silvia Radenkovic, Madan Gopal Ramarajan, Sav...> ;JCI Insight. 2024 Apr 8
• Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.
  Xinying Hong, Andrew C Edmondson, Alanna Strong, Daniel Pomerantz, Emma Michl, Gerard Berry, Miao He> ;Molecular Genetics and Metabolism. 2023 Nov 1
• 2 citations
  Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
  Anna N Ligezka, Rohit Budhraja, Yurika Nishiyama, Fabienne C Fiesel, Graeme Preston, Andrew Edmondson, Wasantha Ranatunga, Johan L K Van Hove, Jens O Watzlawik, Wolfdi...> ;Genes. 2023 Aug 4
• 3 citations
  Tracer metabolomics reveals the role of aldose reductase in glycosylation.
  Silvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, Karen Driesen, Lynn Dukes-Rimsky, Graeme Preston, Luckio F Owuocha, Leila Sabbagh, Jehan Mousa, Christina Lam, Andr...> ;Cell Reports. Medicine. 2023 Jun 20
• 3 citations
  Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
  Diederik De Graef, Anna N Ligezka, Joseph Rezents, Gina L Mazza, Graeme Preston, Kaitlin Schwartz, Wirginia Krzysciak, Christina Lam, Andrew C Edmondson, Christin John...> ;Molecular Genetics and Metabolism. 2023 Jun 1
• Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
  Rameen Shah, Christin Johnsen, Beth A Pletcher, Andrew C Edmondson, Tamas Kozicz, Eva Morava> ;American Journal of Medical Genetics. Part A. 2023 Jun 1
• 4 citations
  Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
  Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L Goldner, Bobby G Ng, Peter Witters, Amal Aqul, Frances Velez-Bartolomei, Gregory M Enns, Evel...> ;Journal of Inherited Metabolic Disease. 2023 Mar 1
• A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic.
  Xinying Hong, Hana Alharbi, Daniah Albokhari, Andrew C Edmondson, Miao He> ;Clinical Chemistry. 2022 Jul 3
• 4 citations
  Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
  Katherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, Erin Y Chen, Jessica R C Priestley, Lydia S Williams, Sneha A Rangu, Christina M Wright, Priyanka Adusumall...> ;Pediatrics. 2022 Jul 1
• 5 citations
  ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
  Daniah Albokhari, Bobby G Ng, Alis Guberinic, Earnest James Paul Daniel, Nicole M Engelhardt, Rita Barone, Agata Fiumara, Livia Garavelli, Gabriele Trimarchi, Lynne Wo...> ;Journal of Inherited Metabolic Disease. 2022 Sep 1
• 2 citations
  A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
  Irina Geiculescu, Jason Dranove, Graham Cosper, Andrew C Edmondson, Eva Morava-Kozicz, Lauren B Carter> ;American Journal of Medical Genetics. Part A. 2022 Aug 1
• 2 citations
  Expanding the phenotypic spectrum of ARCN1-related syndrome.
  Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica We...> ;Genetics in Medicine. 2022 Jun 1
• 9 citations
  Patient-reported outcomes and quality of life in PMM2-CDG.
  Anna N Ligezka, Anab Mohamed, Carlota Pascoal, Vanessa Dos Reis Ferreira, Suzanne Boyer, Christina Lam, Andrew Edmondson, Wirginia Krzysciak, Raphael Golebiowski, Judi...> ;Molecular Genetics and Metabolism. 2022 Jun 1
• 12 citations
  Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
  Jessica R C Priestley, Laura A Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M Engelhardt, James C DiPerna, Brenda DiBoscio, Rebecca C Ahr...> ;International Journal of Neonatal Screening. 2022 Mar 23
• 19 citations
  Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
  Anna N. Ligezka, Silvia Radenkovic, Mayank Saraswat, Kishore Garapati, Wasantha Ranatunga, Wirginia Krzysciak, Hitoshi Yanaihara, Graeme Preston, William Brucker, Rene...> ;Annals of Neurology. 2021 Oct 26
• Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation
  Christin Johnsen, Andrew C. Edmondson> ;Clinical Liver Disease. 2021 Aug 1
• 9 citations
  Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
  Daniel L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael E. March, Ana Berta Sousa, Anna Lehman, Dmitriy Niyazov, Fleur S van Dijk, Serwet Demirdas, Marjon van Sl...> ;American Journal of Human Genetics. 2021 Jul 1
• 2 citations
  Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
  Anna Cechova, Tomas Honzik, Andrew C. Edmondson, Can Ficicioglu, Mercedes Serrano, Rita Barone, Pascale de Lonlay, Manuel Schiff, Peter Witters, Christina Lam, Marc C....> ;Molecular Genetics and Metabolism. 2021 Jun 11
• 3 citations
  PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
  Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Fizza Akbar, Shahnaz Ibrahim, Bushra Afroze, Mohammad Doosti...> ;Genetics in Medicine. 2021 Jun 10
• 9 citations
  ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
  Hind Alsharhan, Miao He, Andrew C. Edmondson, Earnest James Paul Daniel, Jie Chen, Tyhiesia Donald, Somayeh Bakhtiari, David J. Amor, Elizabeth Jones, Grace Vassallo, ...> ;Journal of Inherited Metabolic Disease. 2021 Mar 18
• 8 citations
  Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
  Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo Raymond, Miao He, Hudson H. Freeze, Eva Morava> ;Orphanet Journal of Rare Diseases. 2021 Feb 25
• 5 citations
  Expanding the Phenotype, Genotype and Biochemical Knowledge of ALG3‐CDG
  Hind Alsharhan, Bobby G. Ng, Earnest James Paul Daniel, Jennifer Friedman, Eniko K. Pivnick, Amal Alhashem, Eissa Faqeih, Pengfei Liu, Nicole Engelhardt, Kierstin N Ke...> ;Journal of Inherited Metabolic Disease. 2021 Feb 13
• 14 citations
  Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendati...
  Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Doederlein Schwart...> ;Orphanet Journal of Rare Diseases. 2021 Jan 7
• 16 citations
  X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder
  Barbara Terzic, Yue Cui, Andrew C. Edmondson, Sheng Tang, Nicolas Sarmiento, Daria Zaitseva, Eric D. Marsh, Douglas A. Coulter, Zhaolan Zhou> ;Neurobiology of Disease. 2021 Jan 1
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Journal Articles

• Correction: “Congenital Hyperinsulinism as the Presenting Feature of Kabuki Syndrome: Clinical and Molecular Characterization of 10 Affected Individuals”  
  Lindsay C Burrage, Sara Halbach, Paul Thornton, Andrew C Edmondson, Alejandro Diaz, Lisa Truong, Darrel Waggoner, Nature
• Congenital Hyperinsulinism as the Presenting Feature of Kabuki Syndrome: Clinical and Molecular Characterization of 10 Affected Individuals  
  Alejandro Diaz, Darrel Waggoner, Lindsay C Burrage, Sara Halbach, Andrew C Edmondson, Lisa Truong, Paul Thornton, Nature