M. Davids

发表

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Ellen F. Macnamara, C. Toro, W. Gahl, 2016, Genetics in Medicine.

Asymmetric dimethylarginine (ADMA) and cardiovascular disease

M. Davids, T. Teerlink, 2012 .

Glial‐cell‐mediated re‐induction of the blood‐brain barrier phenotype in brain capillary endothelial cells: A differential gel electrophoresis study

M. Davids, Y. Karamanos, P. Couraud, 2013, Proteomics.

Plasma concentrations of arginine and asymmetric dimethylarginine do not reflect their intracellular concentrations in peripheral blood mononuclear cells.

M. Davids, T. Teerlink, 2013, Metabolism: clinical and experimental.

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

H. Hakonarson, Yiran Guo, D. Adams, 2020, Molecular genetics and metabolism.

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

B. Behnam, D. Adams, C. Toro, 2019, Molecular genetics and metabolism.

Defective ciliogenesis in INPP5E‐related Joubert syndrome

Ellen F. Macnamara, C. Toro, W. Gahl, 2017, American journal of medical genetics. Part A.

Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine

H. Blom, M. Davids, T. Teerlink, 2012, FEBS letters.

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

H. Freeze, D. Adams, C. Boerkoel, 2016, American journal of human genetics.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

Role of dimethylarginine dimethylaminohydrolase activity in regulation of tissue and plasma concentrations of asymmetric dimethylarginine in an animal model of prolonged critical illness.

G. Van den Berghe, M. Davids, B. Ellger, 2012, Metabolism: clinical and experimental.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Rationale and design of a proof-of-concept trial investigating the effect of uninterrupted perioperative (par)enteral nutrition on amino acid profile, cardiomyocytes structure, and cardiac perfusion and metabolism of patients undergoing coronary artery bypass grafting

M. Davids, B. D. de Mol, W. Kok, 2011, Journal of cardiothoracic surgery.

Measurement of nitric oxide-related amino acids in serum and plasma: effects of blood clotting and type of anticoagulant.

M. Davids, T. Teerlink, S. de Jong, 2013, Clinica chimica acta; international journal of clinical chemistry.

The role of asymmetric dimethylarginine and arginine in the failing heart and its vasculature

W. Paulus, M. Davids, M. Richir, 2010, European journal of heart failure.

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.

H. Blom, M. Davids, P. Scheffer, 2012, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy

C. Tifft, W. Gahl, T. Markello, 2018, Human mutation.

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Damian Smedley, Cheng-Kang Hsieh, Karen Xu, 2017, Front. Med..

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Wei Zheng, Yan Huang, Tim Wood, 2019, American journal of human genetics.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Michael F. Wangler, J. Rosenfeld, H. Bellen, 2017, American journal of human genetics.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Benjamin J. Strober, Sarah E. Gould, David R. Murdock, 2019, Nature Medicine.

L-Homoarginine and L-arginine are antagonistically related to blood pressure in an elderly population: the Hoorn study

J. Dekker, M. Davids, C. Stehouwer, 2013, Journal of hypertension.

Intracellular asymmetric dimethylarginine (ADMA) and homoarginine: metabolism and relation to plasma levels

Academisch Proefschrift, M. Davids, geboren te Haarlem, 2013 .

Nutrition before, during, and after surgery increases the arginine:asymmetric dimethylarginine ratio and relates to improved myocardial glucose metabolism: a randomized controlled trial.

M. Davids, B. D. de Mol, W. Kok, 2014, The American journal of clinical nutrition.

Nutrition Before, During, and after Surgery Increases the Arginine/adma Ratio and Relates to Improved Myocardial Glucose Metabolism: a Randomized Controlled Trial

M. Davids, B. D. de Mol, W. Kok, 2022 .

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Glycomics in rare diseases: from diagnosis tomechanism

C. Toro, C. Boerkoel, C. Tifft, 2019, Translational research : the journal of laboratory and clinical medicine.

Abnormal glycosylation in Joubert syndrome type 10

C. Boerkoel, W. Gahl, M. Davids, 2017, Cilia.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

C. Toro, C. Boerkoel, W. Gahl, 2015, Journal of Medical Genetics.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

D. Adams, C. Boerkoel, W. Gahl, 2015, Molecular genetics and metabolism.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Protein arginine hypomethylation in a mouse model of cystathionine β‐synthase deficiency

R. Castro, H. Blom, M. Davids, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Role of the human erythrocyte in generation and storage of asymmetric dimethylarginine.

M. Davids, R. Nijveldt, P. V. van Leeuwen, 2012, American journal of physiology. Heart and circulatory physiology.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

W. Gahl, C. Ferreira, M. Davids, 2019, Molecular genetics and metabolism.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Role of dimethylarginine dimethylaminohydrolase activity in regulation of tissue and plasma concentrations of asymmetric dimethylarginine in an animal model of prolonged critical illness.

G. Van den Berghe, M. Davids, B. Ellger, 2012, Metabolism: clinical and experimental.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.