S. Dobrowolski

发表

Catalytic properties, tissue and intracellular distribution of neurofibromin.

M. Roudebush, M. Golubić, D. Stacey, 1992, Oncogene.

Inhibition of cyclin-dependent kinases by p21.

S. Elledge, L. Tsai, J. Harper, 1995, Molecular biology of the cell.

Planning the Human Variome Project: The Spain report

Toshio Kojima, John M. Hancock, Sue Povey, 2009, Human mutation.

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

I Knudsen, P. Bross, B. Andresen, 2001, American journal of human genetics.

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

Karen Eilbeck, Elaine Lyon, Rong Mao, 2018, Human mutation.

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Nenad Blau, N. Blau, S. Dobrowolski, 2011, Molecular genetics and metabolism.

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

S. Dobrowolski, Rani H. Singh, B. Coffee, 2012, Molecular genetics and metabolism.

Optimization of an automated DNA purification protocol for neonatal screening.

S. Dobrowolski, R. Banas, E. Naylor, 1999, Archives of pathology & laboratory medicine.

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.

S. Dobrowolski, R. Martin, R. Koch, 2007, Molecular genetics and metabolism.

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin

S. Dobrowolski, R. Koch, E. Naylor, 2009, Journal of Human Genetics.

Mitochondrial respiratory chain disorders in the Old Order Amish population.

D. Morton, J. Vockley, S. Dobrowolski, 2016, Molecular genetics and metabolism.

itor of Cdk 2 and Cdk 4 kinase complexes in vitro ( Gu

L. Tsai, J. Harper, B. Dynlacht, 2022 .

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria

K. Strauss, J. Vockley, S. Dobrowolski, 2022, Molecular genetics and metabolism reports.

A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

Sarah A. Hansen, S. Christ, L. Spate, 2020, JCI insight.

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.

P. Guldberg, S. Dobrowolski, F. Güttler, 2019, Molecular genetics and metabolism.

Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse.

J. Vockley, S. Dobrowolski, Y. L. Phua, 2021, Molecular genetics and metabolism.

Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency

S. Dobrowolski, Rani H. Singh, U. Ramakrishnan, 2016, Journal of Inherited Metabolic Disease.

Detection and assignment of CYP21 mutations using peptide mass signature genotyping.

J. Jarvik, S. Dobrowolski, C. Telmer, 2004, Molecular genetics and metabolism.

Methylome repatterning in a mouse model of Maternal PKU Syndrome.

James Lyons-Weiler, S. Dobrowolski, T. Sultana, 2014, Molecular genetics and metabolism.

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene

D. Hougaard, B. Andresen, S. Dobrowolski, 2010, Journal of Inherited Metabolic Disease.

Validation of dye‐binding/high‐resolution thermal denaturation for the identification of mutations in the SLC22A5 gene

N. Longo, S. Dobrowolski, B. Wilcken, 2005, Human mutation.

Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.

N. Longo, S. Dobrowolski, P. Rinaldo, 2004, Molecular genetics and metabolism.

The regulation of endothelial cell motility by p21 ras.

G. Sa, D. Stacey, S. Dobrowolski, 1994, Oncogene.

Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.

E. Lyon, S. Dobrowolski, Cindy Meadows, 2012, Genetic testing and molecular biomarkers.

Ras GTPase-activating protein physically associates with mitogenically active phospholipids

C. Yu, M. Roudebush, D. Stacey, 1991, Molecular and cellular biology.

High‐Resolution Melt Profiling

C. Wittwer, S. Dobrowolski, 2011 .

FilmArray, an Automated Nested Multiplex PCR System for Multi-Pathogen Detection: Development and Application to Respiratory Tract Infection

Carrie L. Byington, Kirk M. Ririe, C. Byington, 2011, PloS one.

Rapid β-Globin Genotyping by Multiplexing Probe Melting Temperature and Color

C. Wittwer, M. Herrmann, S. Dobrowolski, 2000 .

Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.

J. Carulli, S. Dobrowolski, W. H. Hannon, 2015, Clinical chemistry.

Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.

S. Dobrowolski, T. Prior, E. Naylor, 2012, Clinical chemistry.

A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation.

S. Dobrowolski, H. Blair, L. Robinson, 2018, Molecular genetics and metabolism.

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

J. Vockley, S. Dobrowolski, B. Seminotti, 2022, Molecular genetics and metabolism reports.

Correction: FilmArray, an Automated Nested Multiplex PCR System for Multi-Pathogen Detection: Development and Application to Respiratory Tract Infection

Kirk M. Ririe, C. Byington, D. Teng, 2011, PLOS ONE.

Host conditioning and rejection monitoring in hepatocyte transplantation in humans.

D. Stolz, M. Deutsch, S. Strom, 2017, Journal of hepatology.

An E2F dominant negative mutant blocks E1A induced cell cycle progression.

D. Stacey, S. Dobrowolski, S. Hiebert, 1994, Oncogene.

Correction: The high-density lipoprotein receptor Scarb1 is required for normal bone differentiation in vivo and in vitro

S. Dobrowolski, M. Zaidi, H. Blair, 2019, Laboratory Investigation.

The high-density lipoprotein receptor Scarb1 is required for normal bone differentiation in vivo and in vitro

S. Dobrowolski, M. Zaidi, H. Blair, 2019, Laboratory Investigation.

Glutamine energy substrate anaplerosis increases bone density in the Pahenu2 classical PKU mouse in the absence of phenylalanine restriction

J. Vockley, S. Dobrowolski, Y. L. Phua, 2022, JIMD reports.

Comparative metabolomics in the Pahenu2 classical PKU mouse identifies cerebral energy pathway disruption and oxidative stress.

Yudong Wang, J. Vockley, S. Dobrowolski, 2022, Molecular genetics and metabolism.

Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stress.

Yudong Wang, J. Vockley, S. Dobrowolski, 2021, Molecular genetics and metabolism.

Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity.

J. Vockley, S. Dobrowolski, Y. L. Phua, 2022, Molecular genetics and metabolism.

The GTPase stimulatory activities of the neurofibromatosis type 1 and the yeast IRA2 proteins are inhibited by arachidonic acid.

F. Tamanoi, K. Tanaka, M. Golubić, 1991, The EMBO journal.

Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.

J. Vockley, S. Dobrowolski, T. Derks, 2019, Molecular genetics and metabolism.

Hydroxocobalamin infusion in a patient monitored for plasma free hemoglobin levels.

Octavia M Peck Palmer, S. Dobrowolski, L. Cropcho, 2022, Clinical biochemistry.

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases

M. Tuchman, S. Dobrowolski, Natalie Christian, 2009, Human mutation.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Melissa L McPheeters, Mary Lou Lindegren, Anita MacDonald, 2014, Molecular genetics and metabolism.

Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.

S. Dobrowolski, R. Banas, E. Naylor, 2003, Molecular genetics and metabolism.

Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.

S. Dobrowolski, R. Banas, E. Naylor, 2003, The Journal of molecular diagnostics : JMD.

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

M. Barmada, S. Dobrowolski, E. Naylor, 2014, Muscle & nerve.

Identifying sequence variants in the human mitochondrial genome using high‐resolution melt (HRM) profiling

S. Dobrowolski, Trent Miller, Jesse Gray, 2009, Human mutation.

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

J. Swensen, J. Carey, M. Larsen, 2016, PLoS genetics.

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

B. Andresen, N. Blau, S. Dobrowolski, 2012, Molecular genetics and metabolism.

University of Southern Denmark Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable-Molecular pathology of mutations in PAH exon 11 Heintz,

B. Andresen, N. Blau, S. Dobrowolski, 2012 .

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.

T. K. Doktor, B. Andresen, S. Dobrowolski, 2010, Molecular genetics and metabolism.

Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons

Carl T. Wittwer, Lyle M. Nay, C. N. Gundry, 2008, Nucleic acids research.

A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment

J. Vockley, S. Dobrowolski, Y. L. Phua, 2023, bioRxiv.

The adenovirus E1A protein overrides the requirement for cellular ras in initiating DNA synthesis.

D. Stacey, S. Dobrowolski, A. Piotrkowski, 1994, The EMBO journal.

Cellular ras activity is required for passage through multiple points of the G0/G1 phase in BALB/c 3T3 cells

D. Stacey, S. Dobrowolski, M. Harter, 1994, Molecular and cellular biology.

Acquired deficiency of peroxisomal dicarboxylic acid catabolism is a metabolic vulnerability in hepatoblastoma

E. Prochownik, Huabo Wang, Jie Lu, 2021, The Journal of biological chemistry.

Acquired deficiency of the peroxisomal enzyme enoyl-CoA hydratase/3-hydroxyacyl CoA dehydrogenase is a metabolic vulnerability in hepatoblastoma

E. Prochownik, Huabo Wang, Jie Lu, 2020, bioRxiv.

Impaired mitochondrial medium-chain fatty acid oxidation drives periportal macrovesicular steatosis in sirtuin-5 knockout mice

S. Dobrowolski, S. Monga, Yuxun Zhang, 2020, Scientific Reports.

A New View of Bone Loss in Phenylketonuria

S. Dobrowolski, H. Blair, I. Tourkova, 2021, Organogenesis.

DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria.

James Lyons-Weiler, J. Vockley, S. Dobrowolski, 2016, Molecular genetics and metabolism.

Rapid beta-globin genotyping by multiplexing probe melting temperature and color.

C. Wittwer, M. Herrmann, S. Dobrowolski, 2000, Clinical chemistry.

Altered DNA methylation in PAH deficient phenylketonuria.

James Lyons-Weiler, J. Vockley, S. Dobrowolski, 2015, Molecular genetics and metabolism.

Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2020, Frontiers in Physiology.

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders

J. Vockley, S. Dobrowolski, A. Mohsen, 2021, Frontiers in Genetics.

Growth and mineralization of osteoblasts from mesenchymal stem cells on microporous membranes: Epithelial-like growth with transmembrane resistance and pH gradient.

D. Stolz, P. Schlesinger, S. Dobrowolski, 2021, Biochemical and biophysical research communications.

Newborn Bloodspot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

J. Carulli, S. Dobrowolski, W. H. Hannon, 2014 .

Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system

M. Tuchman, S. Dobrowolski, L. Caldovic, 2007, Human mutation.

Release from G1 growth arrest by transforming growth factor beta 1 requires cellular ras activity.

D. Stacey, S. Dobrowolski, P. Howe, 1993, The Journal of biological chemistry.

Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.

J. Vockley, S. Dobrowolski, K. Pappan, 2020, Molecular genetics and metabolism.

Creatine energy substrate increases bone density in the Pahenu2 classical PKU mouse in the context of phenylalanine restriction

S. Dobrowolski, H. Blair, I. Tourkova, 2023, Molecular genetics and metabolism reports.

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.

S. Dobrowolski, J. Bedoyan, L. Cropcho, 2023, Molecular genetics & genomic medicine.

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

N. Blau, S. Dobrowolski, B. Thöny, 2011, Molecular genetics and metabolism.

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

S. Dobrowolski, Angel L. Pey, C. Ellingson, 2009, Journal of Inherited Metabolic Disease.