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| 35042229 | Rapid epidemic expansion of the SARS-CoV-2 Omicron variant in southern Africa. | Nature | 2022 |
| 35042229 | Rapid epidemic expansion of the SARS-CoV-2 Omicron variant in southern Africa. | Nature | 2022 |
| 33670003 | A Novel Mouse Monoclonal Antibody C42 against C-Terminal Peptide of Alpha-1-Antitrypsin. | Int J Mol Sci | 2021 |
| 33670003 | A Novel Mouse Monoclonal Antibody C42 against C-Terminal Peptide of Alpha-1-Antitrypsin. | Int J Mol Sci | 2021 |
| 32165008 | Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. | Mol Genet Metab | 2020 |
| 32165008 | Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. | Mol Genet Metab | 2020 |
| 30528883 | Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. | Mol Genet Metab | 2019 |
| 30362252 | Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. | Hum Mutat | 2019 |
| 30423312 | Glycomics in rare diseases: from diagnosis tomechanism. | Transl Res | 2019 |
| 30528883 | Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. | Mol Genet Metab | 2019 |
| 31445883 | Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation. | Mol Genet Metab | 2019 |
| 31155284 | Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. | Am J Hum Genet | 2019 |
| 31445883 | Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation. | Mol Genet Metab | 2019 |
| 31155284 | Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. | Am J Hum Genet | 2019 |
| 30423312 | Glycomics in rare diseases: from diagnosis tomechanism. | Transl Res | 2019 |
| 30362252 | Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. | Hum Mutat | 2019 |
| 30290151 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Am J Hum Genet | 2018 |
| 30290151 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Am J Hum Genet | 2018 |
| 27388694 | Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. | Genet Med | 2017 |
| 28603714 | Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. | Front Med (Lausanne) | 2017 |
| 28344780 | Abnormal glycosylation in Joubert syndrome type 10. | Cilia | 2017 |
| 29052317 | Defective ciliogenesis in INPP5E-related Joubert syndrome. | Am J Med Genet A | 2017 |
| 29136352 | Cover Image, Volume 173A, Number 12, December 2017. | Am J Med Genet A | 2017 |
| 27388694 | Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. | Genet Med | 2017 |
| 28017372 | A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. | Am J Hum Genet | 2017 |
| 28344780 | Abnormal glycosylation in Joubert syndrome type 10. | Cilia | 2017 |
| 29052317 | Defective ciliogenesis in INPP5E-related Joubert syndrome. | Am J Med Genet A | 2017 |
| 29136352 | Cover Image, Volume 173A, Number 12, December 2017. | Am J Med Genet A | 2017 |
| 28603714 | Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. | Front Med (Lausanne) | 2017 |
| 28017372 | A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. | Am J Hum Genet | 2017 |
| 26805780 | Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. | Am J Hum Genet | 2016 |
| 26805780 | Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. | Am J Hum Genet | 2016 |
| 26668131 | Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. | J Med Genet | 2016 |
| 26668131 | Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. | J Med Genet | 2016 |
| 25943031 | Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. | Mol Genet Metab | 2015 |
| 25943031 | Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. | Mol Genet Metab | 2015 |
| 24695897 | Nutrition before, during, and after surgery increases the arginine:asymmetric dimethylarginine ratio and relates to improved myocardial glucose metabolism: a randomized controlled trial. | Am J Clin Nutr | 2014 |
| 24532665 | Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency. | FASEB J | 2014 |
| 24695897 | Nutrition before, during, and after surgery increases the arginine:asymmetric dimethylarginine ratio and relates to improved myocardial glucose metabolism: a randomized controlled trial. | Am J Clin Nutr | 2014 |
| 24532665 | Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency. | FASEB J | 2014 |
| 23518295 | Measurement of nitric oxide-related amino acids in serum and plasma: effects of blood clotting and type of anticoagulant. | Clin Chim Acta | 2013 |
| 23890667 | Plasma concentrations of arginine and asymmetric dimethylarginine do not reflect their intracellular concentrations in peripheral blood mononuclear cells. | Metabolism | 2013 |
| 23436736 | Glial-cell-mediated re-induction of the blood-brain barrier phenotype in brain capillary endothelial cells: a differential gel electrophoresis study. | Proteomics | 2013 |
| 23518295 | Measurement of nitric oxide-related amino acids in serum and plasma: effects of blood clotting and type of anticoagulant. | Clin Chim Acta | 2013 |
| 23552121 | L-Homoarginine and L-arginine are antagonistically related to blood pressure in an elderly population: the Hoorn study. | J Hypertens | 2013 |
| 23890667 | Plasma concentrations of arginine and asymmetric dimethylarginine do not reflect their intracellular concentrations in peripheral blood mononuclear cells. | Metabolism | 2013 |
| 23436736 | Glial-cell-mediated re-induction of the blood-brain barrier phenotype in brain capillary endothelial cells: a differential gel electrophoresis study. | Proteomics | 2013 |
| 23552121 | L-Homoarginine and L-arginine are antagonistically related to blood pressure in an elderly population: the Hoorn study. | J Hypertens | 2013 |
| 22000584 | Role of dimethylarginine dimethylaminohydrolase activity in regulation of tissue and plasma concentrations of asymmetric dimethylarginine in an animal model of prolonged critical illness. | Metabolism | 2012 |
| 22682940 | Simultaneous determination of asymmetric and symmetric dimethylarginine, L-monomethylarginine, L-arginine, and L-homoarginine in biological samples using stable isotope dilution liquid chromatography tandem mass spectrometry. | J Chromatogr B Analyt Technol Biomed Life Sci | 2012 |