Ellen Sidransky | Academic Influence

Ellen Sidransky's AcademicInfluence.com Rankings

Ellen Sidransky

Medical

#1515

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#1861

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Pediatrics

#58

World Rank

#69

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Ellen Sidransky

Biology

#5025

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#7407

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Genetics

#550

World Rank

#627

Historical Rank

biology Degrees

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Medical
Biology

Ellen Sidransky's Degrees

Masters Medicine University of Pennsylvania
PhD Genetics University of Pennsylvania

Why Is Ellen Sidransky Influential?

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According to Wikipedia, Ellen Sidransky is an American pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research Institute. She is chief of the Molecular Neurogenetics Section.

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Ellen Sidransky's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies (2011) (1070)
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (2009) (965)
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) (2008) (580)
The link between the GBA gene and parkinsonism (2012) (451)
Neuropathology provides clues to the pathophysiology of Gaucher disease. (2004) (408)
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease. (2014) (369)
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. (2013) (357)
Gaucher disease: complexity in a "simple" disorder. (2004) (349)
Glucocerebrosidase mutations in subjects with parkinsonism. (2004) (347)
Parkinsonism among Gaucher disease carriers (2004) (335)
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? (2003) (299)
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (2000) (295)
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene (1992) (284)
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease (2017) (278)
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. (1994) (274)
Support for association between ADHD and two candidate genes: NET1 and DRD1 (2005) (223)
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders (2006) (214)
Epidermal sphingomyelins are precursors for selected stratum corneum ceramides. (2000) (212)
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease (2000) (211)
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. (2001) (197)
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. (2008) (196)
Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons (2016) (191)
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. (2008) (183)
Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analyses (1998) (181)
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. (2002) (178)
Lysosomal Storage Disorders in the Newborn (2009) (174)
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders (2010) (171)
α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases* (2011) (169)
A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism (2016) (167)
Exploring the link between glucocerebrosidase mutations and parkinsonism. (2011) (151)
Glucocerebrosidase and its relevance to Parkinson disease (2019) (151)
Enhanced calcium release in the acute neuronopathic form of Gaucher disease (2005) (146)
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. (2003) (142)
Gaucher Disease in the Neonate: A Distinct Gaucher Phenotype Is Analogous to a Mouse Model Created by Targeted Disruption of the Glucocerebrosidase Gene (1992) (136)
The Role of Glucocerebrosidase Mutations in Parkinson Disease and Lewy Body Disorders (2010) (135)
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease (2007) (133)
Glucocerebrosidase is shaking up the synucleinopathies. (2014) (133)
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease (2017) (115)
Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits. (2013) (115)
Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages (2015) (114)
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. (2003) (114)
Gaucher disease: insights from a rare Mendelian disorder. (2012) (111)
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal (2009) (110)
Divergent phenotypes in Gaucher disease implicate the role of modifiers (2005) (110)
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. (2007) (107)
Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease (2012) (107)
Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. (1996) (107)
Myoclonic Epilepsy in Gaucher Disease: Genotype-Phenotype Insights from a Rare Patient Subgroup (2003) (103)
Gaucher disease: Progress and ongoing challenges. (2017) (102)
Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (1997) (102)
The role of saposin C in Gaucher disease. (2012) (100)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture (2021) (99)
Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase. (2012) (95)
Glucosylsphingosine Accumulation in Mice and Patients with Type 2 Gaucher Disease Begins Early in Gestation (2000) (90)
Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs (2014) (90)
Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity. (2013) (90)
Mucolipidosis type IV: an update. (2011) (89)
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism (2009) (87)
The clinical management of Type 2 Gaucher disease. (2015) (87)
Epidermal Abnormalities May Distinguish Type 2 from Type 1 and Type 3 of Gaucher Disease (1996) (86)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (85)
Type 2 Gaucher disease: the collodion baby phenotype revisited (2000) (84)
Hydrops fetalis: lysosomal storage disorders in extremis. (1999) (84)
Gaucher’s disease with Parkinson’s disease (2003) (81)
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow. (2012) (78)
Gaucher disease and parkinsonism. (2005) (75)
A mutation in SCARB2 is a modifier in gaucher disease (2011) (73)
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. (2011) (72)
Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations. (2011) (71)
GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis (2016) (67)
Glucocerebrosidase mutations are also found in subjects with early‐onset parkinsonism from Venezuela (2006) (67)
A monozygotic twin pair with highly discordant Gaucher phenotypes. (2011) (66)
Gaucher disease associated with parkinsonism: Four further case reports (2003) (65)
Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired". (1998) (65)
Recent advances in the diagnosis and management of Gaucher disease (2018) (64)
Lysosomal integral membrane protein-2: a new player in lysosome-related pathology. (2014) (64)
Heterozygosity for a Mendelian disorder as a risk factor for complex disease (2006) (61)
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. (2005) (59)
DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype? (1994) (59)
MUTATIONS IN GBA ARE ASSOCIATED WITH FAMILIAL PARKINSON DISEASE SUSCEPTIBILITY AND AGE AT ONSET (2009) (59)
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity. (2011) (59)
Genotypic Heterogeneity and Phenotypic Variation among Patients with Type 2 Gaucher's Disease (1998) (57)
High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase (2012) (57)
PERINATAL LETHAL GAUCHER DISEASE: A DISTINCT PHENOTYPE ALONG THE NEURONOPATHIC CONTINUUM (2005) (56)
DNA mutation analysis of Gaucher patients. (1992) (54)
The Spectrum of Neurological Manifestations Associated with Gaucher Disease (2017) (53)
Fabry Disease – Current Treatment and New Drug Development (2010) (51)
Gaucher Disease and the Synucleinopathies (2006) (50)
Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease (2016) (50)
Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21. (2000) (49)
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. (1996) (48)
Type 2 gaucher disease: an expanding phenotype. (1999) (46)
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (1999) (43)
New perspectives in type 2 Gaucher disease. (1997) (43)
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease. (2008) (43)
Clinical heterogeneity among patients with Gaucher's disease. (1993) (42)
Structural Features of Membrane-bound Glucocerebrosidase and α-Synuclein Probed by Neutron Reflectometry and Fluorescence Spectroscopy* (2014) (41)
A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique. (1998) (41)
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene. (1997) (41)
Molecular Genetics and Metabolism (2015) (41)
Saposin C protects glucocerebrosidase against α-synuclein inhibition. (2013) (41)
The E326K mutation and Gaucher disease: mutation or polymorphism? (2002) (40)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease (2020) (39)
Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening. (2008) (38)
55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles. (1996) (38)
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus. (1998) (37)
Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. (1996) (37)
Exploring genetic modifiers of Gaucher disease: The next horizon (2018) (36)
A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse. (1995) (35)
The definition of neuronopathic Gaucher disease (2020) (34)
The role of epigenetics in lysosomal storage disorders: Uncharted territory. (2017) (34)
Psychiatric and behavioral manifestations of lysosomal storage disorders (2010) (33)
Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells (2014) (33)
Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease. (1995) (32)
Gaucher's disease: advances and challenges. (1989) (32)
Large CAG/CTG repeats are associated with childhood-onset schizophrenia (1998) (31)
Clinical course and prognosis in patients with Gaucher disease and parkinsonism (2016) (31)
Gaudier patients with oculomotor abnormalities do not have a unique genotype (1992) (31)
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications. (2011) (30)
GBA1-associated parkinsonism: new insights and therapeutic opportunities. (2019) (29)
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease (2013) (29)
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges (2020) (28)
Apolipoprotein E alleles in childhood-onset schizophrenia. (1999) (27)
C-terminal α-synuclein truncations are linked to cysteine cathepsin activity in Parkinson's disease (2019) (27)
A new resorufin-based alpha-glucosidase assay for high-throughput screening. (2009) (26)
Pro-cathepsin D, Prosaposin, and Progranulin: Lysosomal Networks in Parkinsonism. (2020) (26)
Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease (2020) (26)
Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease (2006) (26)
N4-phenyl modifications of N2-(2-hydroxyl)ethyl-6-(pyrrolidin-1-yl)-1,3,5-triazine-2,4-diamines enhance glucocerebrosidase inhibition by small molecules with potential as chemical chaperones for Gaucher disease. (2007) (26)
Inhibition of denitrification by uncouplers of oxidative phosphorylation. (1978) (25)
Gaucher Disease‐Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis (2015) (25)
Lysosomal dysfunction in neurodegeneration: emerging concepts and methods (2022) (24)
Cholelithiasis in patients with Gaucher disease. (2002) (24)
A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide (2011) (24)
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease (2002) (24)
Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators. (2010) (24)
Deficient vesicular storage: A common theme in catecholaminergic neurodegeneration. (2015) (24)
Discovery of a novel noniminosugar acid α glucosidase chaperone series. (2012) (23)
Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course. (2017) (23)
A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment. (2016) (23)
ACE phenotyping in Gaucher disease. (2018) (23)
Similarities between mouse and rat-liver microsomal cytochromes P-450 induced by 3-methylcholanthrene. Evidence from catalytic, immunologic, and recombinant DNA studies. (1982) (22)
Cytogenetic abnormalities in attention-deficit/hyperactivity disorder. (2002) (22)
Mandibular and dental manifestations of Gaucher disease. (2012) (21)
Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease (1999) (21)
Detection of polyglutamine expansion in a new acidic protein: a candidate for childhood onset schizophrenia? (1999) (21)
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease (2016) (21)
Induced pluripotent stem cell models of lysosomal storage disorders (2017) (21)
Gaucher mutation N188S is associated with myoclonic epilepsy (2005) (21)
Non-iminosugar glucocerebrosidase small molecule chaperones. (2012) (20)
Splenectomy in Gaucher disease: new management dilemmas. (1998) (19)
Gaucher Disease: Molecular Biology and Genotype-Phenotype Correlations (2006) (19)
Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data. (2013) (19)
Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser? (2009) (18)
Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare. (2009) (18)
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism (2006) (18)
UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3 (2008) (18)
Glucocerebrosidase mutation T369M appears to be another polymorphism (2003) (18)
Therapy for Gaucher disease: don't stop thinking about tomorrow. (2007) (17)
Glucocerebrosidase as a therapeutic target for Parkinson’s disease (2020) (17)
Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C. (2015) (16)
High Throughput Screening for Inhibitors of Alpha-Galactosidase (2010) (16)
Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene (2000) (15)
Studies on the differential inhibition by azide on the nitrite/nitrous oxide level of denitrification (1978) (15)
HLA antigens in childhood onset schizophrenia (1998) (15)
Can GBA1-Associated Parkinson Disease Be Modeled in the Mouse? (2019) (14)
Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease. (2001) (14)
Life‐threatening splenic hemorrhage in two patients with Gaucher disease (2000) (14)
Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease. (2011) (13)
The natural history of type 2 Gaucher disease in the 21st century (2020) (13)
Autosomal recessive mutations in the development of Parkinson's disease. (2010) (13)
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders (2012) (13)
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes. (2021) (13)
Pathologic fractures may develop in gaucher patients receiving enzyme replacement therapy (1994) (13)
False-positive results using a Gaucher diagnostic kit--RecTL and N370S. (2010) (13)
Movement and mood disorder in two brothers with Gaucher disease (2007) (12)
Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C. (1996) (12)
Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease (2000) (12)
Transvaginal chorionic villus sampling (1990) (12)
Diagnosing Gaucher Disease (1995) (11)
Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans. (2012) (11)
In silico and functional studies of the regulation of the glucocerebrosidase gene. (2010) (11)
Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase (2009) (11)
Variation in cognitive function over time in Gaucher disease type 3 (2019) (11)
Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications (2009) (11)
Selective Extraction and Effective Separation of Galactosylsphingosine (Psychosine) and Glucosylsphingosine from Other Glycosphingolipids in Pathological Tissue Samples (2011) (10)
The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease. (2008) (10)
Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection. (2003) (10)
Discovery, SAR, and Biological Evaluation of a Non-Inhibitory Chaperone for Acid Alpha Glucosidase (2013) (10)
6 Gaucher's disease: the best laid schemes of mice and men (1997) (10)
Efferocytosis is impaired in Gaucher macrophages (2016) (10)
Penetrance of PD in Glucocerebrosidase Gene Mutation Carriers (2012) (9)
Clinical Evaluation of Sibling Pairs With Gaucher Disease Discordant for Parkinsonism (2019) (9)
Discovery, SAR, and Biological Evaluation of Non-inhibitory Chaperones of Glucocerebrosidase (2013) (9)
Childhood mortality from accidents in Israel, 1980-84. (1990) (8)
Substrate Reduction Therapy for GBA1‐Associated Parkinsonism: Are We Betting on the Wrong Mouse? (2019) (8)
Using genome-Wwide complex trait analysis to quantify 'missing heritability' in Parkinson's disease (2012) (8)
The Role of Exosomes in Lysosomal Storage Disorders (2021) (8)
Ophthalmological findings in Gaucher disease. (2019) (8)
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease (2004) (8)
Ichthyosis ‐ Cheek ‐ Eyebrow (ICE) syndrome: a new autosomal dominant disorder (1987) (8)
Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles (2021) (8)
Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease (2011) (7)
Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases. (2011) (7)
Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown (2021) (7)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture (2020) (7)
Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2. (2019) (7)
Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations (2020) (7)
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia. (2002) (7)
Gaucher disease: A tale of two species (1995) (6)
Predicting parkinsonism: new opportunities from Gaucher disease. (2013) (6)
Chaperoning glucocerebrosidase: a therapeutic strategy for both Gaucher disease and Parkinsonism (2016) (6)
Ocular Implications of Gaucher Disease (2017) (6)
Current and emerging pharmacotherapy for Gaucher disease in pediatric populations (2021) (6)
Hypernatremic Dehydration in Children with Severe Psychomotor Retardation (1985) (6)
Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells. (2019) (5)
First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L (2019) (5)
α‐Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease (2021) (5)
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review. (2020) (5)
Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene (2017) (5)
Gaucher's disease: the best laid schemes of mice and men. (1997) (5)
False-positive pregnancy tests in Gaucher's disease (1994) (5)
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease. (2018) (5)
Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism (2022) (5)
Gaucher disease plus. (1997) (4)
Glucocerebrosidase mutations and parkinsonism: how much does the mutation matter? (2018) (4)
New macrophage models of Gaucher disease offer new tools for drug development. (2015) (4)
Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells. (2016) (4)
Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease (2015) (4)
Treating patients with Gaucher disease and parkinsonism: misrepresentation in a title. (2008) (4)
Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series (2020) (4)
No Evidence That Glucosylsphingosine Is a Biomarker for Parkinson's Disease: Statistical Differences Do Not Necessarily Indicate Biological Significance (2022) (4)
Anemic Gaucher patients with elevated endogenous erythropoietin levels may not respond to recombinant erythropoietin therapy. (1992) (4)
Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction (2022) (4)
MiRNAs and glucocerebrosidase: lessons from miRNA mimic screening (2014) (3)
Clinical studies of GBA1-associated parkinsonism: progress and challenges. (2016) (3)
Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease (2021) (3)
Comparison of Transcranial Sonography and [18F]‐Fluorodopa PET Imaging in GBA1 Mutation Carriers (2021) (3)
Applications of iPSC-derived models of Gaucher disease. (2015) (3)
Treatment of Gaucher's disease. (1993) (3)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (3)
Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3. (2021) (3)
The Deleterious Duo of Neurodegeneration: Lysosomes and Mitochondria (2016) (3)
Glucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseThis article is a US Government work and, as such, is in the public domain in the United States of America. (2000) (3)
Mutations, modifiers and epigenetics in Gaucher disease: Blurred boundaries between simple and complex disorders. (2019) (3)
Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling (1994) (2)
Minireview Gaucher disease: complexity in a ''simple'' disorder (2004) (2)
Identification of Modulators of the N370S Mutant Form of Glucocerebrosidase as a Potential Therapy for Gaucher Disease - Chemotype 2 (2011) (2)
Erythropoietin levels in gaucher patients (1992) (2)
Dried umbilical cords as a source of DNA for genetic studies. (1993) (2)
Complexity of Genotype-Phenotype Correlations in Mendelian Disorders: Lessons from Gaucher Disease (2015) (2)
White vitreous opacities in five patients with Gaucher disease type 3 (2020) (2)
IPSC-derived dopaminergic neurons from patients with Gaucher disease and Parkinsonism demonstrate the potential of a new glucocerebrosidase chaperone (2016) (1)
Ichthyosis‐cheek‐eyebrow syndrome (ICE(skin)) (1987) (1)
Risky business: Gaucher disease and multiple myeloma (2005) (1)
Newborn Screening in Gaucher Disease: A Bright and Complicated Future (2022) (1)
Progress in generating iPSC-derived dopaminergic neurons as accurate models of neurodegenerative disease (2021) (1)
Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease (2022) (1)
A Germline Mutation in Two Families with Gaucher Disease (2012) (1)
COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic (2021) (1)
A 3’-UTR variant in SCARB2 modulates LIMP2 in patients with Gaucher disease and myoclonic epilepsy (2019) (1)
CRISPR/Cas9‐Based Functional Genomics in Human Induced Pluripotent Stem Cell–Derived Models: Can “the Stars Align” for Neurodegenerative Diseases? (2022) (1)
Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct (2023) (1)
45. Are mutations in LIMP-2 associated with myoclonic epilepsy in patients with Gaucher disease? (2010) (1)
Genetic basis of Gaucher disease. (1995) (1)
Gaucher disease and Parkinsonism: Clinical course and prognosis (2015) (1)
Splenectomy in Gaucher Disease: New Management Dilemmas 722 (1998) (1)
Understanding and managing parkinsonism in patients with glucocerebrosidase mutations (2015) (1)
5-(4-(4-Acetylphenyl)piperazin-1-ylsulfonyl)indolin-2-one Analogs as Inhibitors of Acid alpha-Glucosidase for Potential Chaperone Treatment of Pompe Disease or Intervention for Diabetes Mellitus Type 2 (2013) (1)
Looking beyond the realm of traditional genetics: DNA methylation differences in discordant Gaucher disease twins (2017) (1)
Impaired autophagy leads to inflammasome activation and a heightened inflammatory profile of macrophages in Gaucher disease (2015) (1)
58-5 Repeat expansion detection (red) in neuropsychiatric disorders (1997) (1)
Genetics provides new individualized therapeutic targets for Parkinson’s disease (2020) (1)
Table 4, ADME profile for ML198 and ML266 (2013) (0)
Scheme 1, Synthetic route to ML247 (2013) (0)
Scheme 1, General strategy for modification in the functional core (2011) (0)
How do we explain very discordant phenotypes among three siblings with neuronopathic Gaucher disease? Whole exome sequencing and transcriptome analyses (2019) (0)
The utility of the swallow study in the diagnosis and management of type 2 Gaucher disease (2019) (0)
Mutations in Gaucher's disease detected by Mspl (1990) (0)
Scheme 3, Synthesis of analogs with modification of the aromatic sulphonamide (2011) (0)
Faculty Opinions recommendation of D409H GBA1 mutation accelerates the progression of pathology in A53T α-synuclein transgenic mouse model. (2018) (0)
Targeting protein clearance pathways in GBA1-associated Parkinson disease (2022) (0)
associated parkinsonism and will aid in improving the care and prognostic counseling for these patients . ” (2016) (0)
Technological advances expand our knowledge of lysosomal dysfunction in neurodegeneration (2022) (0)
Development of a human 3D midbrain organoid model for investigating the link between glucocerebrosidase and Parkinson's disease (2020) (0)
90. The association between mutant glucocerebrosidase and parkinsonism (2008) (0)
Figure 4, Stability of ML198 in D-PBS pH 7.4 at room temperature over 48 hr (2013) (0)
Figure 2, Hydrolytic reactions of the red and blue dyes (2013) (0)
The enigmatic link between glucocerebrosidase and parkinsonism: New pieces to the puzzle (2011) (0)
Phenotype-based latent class clustering of GBA1 mutation carriers with and without Parkinson disease (2018) (0)
Figure 8, Images of WT fibroblasts treated with DMSO at passage 7 (left panels) and passage 8 (right panels) (2013) (0)
Figure 10, In vivo exposure by ML247 following a single 50 mg/kg IP dose in mice (2013) (0)
Figure 11, Representative image of p.Y455C/p.G638W GAA fibroblast treated with selective compounds (2013) (0)
Exploring the interaction between glucocerebrosidase and alpha-synuclein (2011) (0)
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era. (2023) (0)
Modeling the association between Gaucher disease and Parkinson disease using in vivo mouse models (2015) (0)
28. Alpha-synuclein aggregation in Gaucher patients and carriers with synucleinopathies (2010) (0)
Mouse macrophage model of Gaucher disease for evaluating non-inhibitory chaperone candidates (2018) (0)
155. High Throughput screen for identifying small molecule modulators of alpha-glucosidase for the potential treatment of Pompe disease (2009) (0)
Figure 3, Structure-activity relationship (SAR) study for CID 9893924 (8i) (2011) (0)
Facial features of lysosomal storage disorders (2022) (0)
Scheme 7, Additional modifications at the 2 position (2011) (0)
Link between Parkinson and Gaucher Glucocerebrosidase Providing a Molecular-Synuclein Interacts with α Protein Structure and Folding : (2011) (0)
Reply to: “Overlapping Ranges in Levels Indicate That Hexosylsphingosine Is Not a Clinically Relevant Biomarker for GBA1‐Associated Parkinson's Disease” (2022) (0)
Scheme 2, Synthesis of analogs with modifications at indoline ring or sulfonamide portion of the molecule (2013) (0)
Biomarkers and mechanisms of central catecholamine deficiency in MSA (2015) (0)
Table 7, Mice pharmacokinetic parameters for probe compound ML201 following oral gavage administration at 30 mg/kg (2013) (0)
RNA-seq analysis of haploinsufficiency in brain samples from a Parkinson mouse model (2021) (0)
Exploration of the role of whole exome sequencing variants in -associated Parkinson disease (2021) (0)
Different Crossover and Gene Conversion Events within the Glucocerebrosidase Region Contribute to the Heterogeneity Encountered in Gaucher Disease (1999) (0)
12. Analysis of enzyme activities of different lysosomal enzymes in brain samples from subjects with Parkinson disease (2008) (0)
Faculty Opinions recommendation of Oligogenic inheritance of a human heart disease involving a genetic modifier. (2020) (0)
DeepGestalt as a potential novel method to help discriminate between the Gaucher disease subtypes (2021) (0)
Figure 7, Stability of ML266 in D-PBS pH 7.4 buffer at room temperature over 48 hr (2013) (0)
Table 6, Comparison of ML247 to prior art (2013) (0)
43. Functional evaluation of predicted regulatory sequences at the GBA locus (2008) (0)
Gaucher and Parkinsonism: Blurred boundaries Between Mendelian and Complex Disorders (2018) (0)
Faculty of 1000 evaluation for Human Astrocytes Transfer Aggregated Alpha-Synuclein via Tunneling Nanotubes. (2018) (0)
Small Molecule Drug Discovery for Fabry Disease (2010) (0)
Contributors (2012) (0)
Scoliosis in chronic neuronopathic Gaucher disease: Characterization in the treatment era (2020) (0)
findings in a family with mutations: A case study and implications for genetic counseling (2020) (0)
Table 5, Comparison of probe to prior art (2013) (0)
P05.10 Early-onset Gaucher disease (GD) in an infant – what phenotype to expect along the neuronopathic continuum and how to treat it? (2011) (0)
Table 9, Compound representatives of initial hit series (2011) (0)
Table 12, Comparison of GC inhibitory activities with Somatostatin receptor sst4 activity (2011) (0)
USE OF LONG TEMPLATE PCR TO DIFFERENTIATE THE GLUCOCEREBROSIDASE GENE FROM PSEUDOGENE: IMPLICATIONS FOR GAUCHER DISEASE. † 870 (1996) (0)
Pyrazolopyrimidines replaced as activators of glucocerebrosidase (2011) (0)
Faculty Opinions recommendation of Neuronal Soma-Derived Degradative Lysosomes Are Continuously Delivered to Distal Axons to Maintain Local Degradation Capacity. (2019) (0)
Cardiovascular Fibrosis, Hydrocephalus, Oculomotor Abnormalities and Visceral Involvement Associated with Mutation D409H in an American Child with Gaucher Disease (1999) (0)
Figure 9, Images of WT fibroblasts (left panels) and Pompe fibroblasts (right panels) treated with DMSO show no detectable levels of GAA in the lysosom of patient cells (2013) (0)
Castellanos replies (1999) (0)
[Table, MLSMR Numbers for Probe and Analogs]. (2013) (0)
Analysis of rare variants in lysosomal pathway genes in patients with Gaucher disease with and without Parkinson disease (2020) (0)
iPSC-derived neuronal models from sibling pairs with Gaucher disease discordant for Parkinson disease (2023) (0)
Characterization of a novel gene at the Gaucher disease locus spanning the region between the glucocerebrosidase (GC) pseudogene and thrombospondin (TSP)3 (1994) (0)
The evaluation of a loss-of-function GBA variant found in Gaucher patients with Parkinson disease (2011) (0)
Sibling pairs with Gaucher disease discordant for Parkinsonism (2017) (0)
Scheme 6, Synthesis of analogs with modifications at the 2 position (2011) (0)
Figure 2, Chaperone activity of compound 13, NCGC00182292 (CID 40225210), and others using wildtype and homozygous, mutant N370S GC fibroblasts. (2011) (0)
Figure 1, Prior art: known alpha-glucosidase inhibitors (2013) (0)
Glucocerebrosidase Gene Mutations and Parkinsonism (2016) (0)
Table 4, Structure activity relationship (SAR) (2011) (0)
Figure 8, Probe compound ML247 restores GAA translocation to the lysosome (blue arrows) (2013) (0)
84. GBA mutations and clinical features of patients evaluated at a referral clinic for Parkinson disease (2010) (0)
Investigation into the pathophysiology of -associated Parkinson's disease using organelle-specific proteomics (2022) (0)
Table 3, Protocol of fibroblast translocation experiment (2013) (0)
Figure 13, Treatment of wt fibroblast with 15 μM (first row, left panel), of 5 μM (first row, right panel) and 1 μM (second row, right panel) of CID 44825300 (compound 32, table 3) (2013) (0)
Novel molecular tools to advance the evaluation of Gaucher disease therapeutics in live cells (2017) (0)
The development and evaluation of a macrophage model of Gaucher disease (2013) (0)
Predicting Parkinson disease: Statistical profiling of clinical data in an at-risk population (2020) (0)
Using genome-wide pooled CRISPRi screen to identify genetic modifiers of Gaucher disease and Parkinson's disease (2022) (0)
Scheme 3, Syntheses of compounds 13a-b (2011) (0)
In memoriam: Roscoe Owen Brady 1923–2016 (2018) (0)
Generating pluripotent stem-cell derived organoids to model Gaucher disease type 2 (2021) (0)
Table 2, Typical protocol of primary and secondary assays (2013) (0)
Scheme 1, Synthesis of compounds 8a-l (2011) (0)
Table 10, Mouse microsomal stability assay at 60 minutes (2011) (0)
Table 7, Analogues with the modifications at the linker (2011) (0)
8 Role of iPSCs in Disease Modeling: Gaucher Disease and Related Disorders (2017) (0)
Scheme 2, Synthesis of compound 10 (2011) (0)
Table 5, In vitro profile of ML247 (2013) (0)
Looking for diamonds in the rough: identifying differentially expressed modifier genes in mouse models for type 2 Gaucher disease (2017) (0)
Studies of glucocerebrosidase provide new therapeutic targets for parkinsonism (2014) (0)
The natural history of cognition in Gaucher disease type 3 (2019) (0)
Prevalence and Severity of Non-motor Manifestations in Patients with Gaucher Disease and Heterozygous GBA1 Mutation Carriers (P2.143) (2015) (0)
Scheme 5, Synthesis of additional analogues with a flexible linker (2011) (0)
47 The identification and characterization of glucocerebrosidase activators and inhibitors as potential therapeutic agents for Gaucher disease (2007) (0)
Figure 11, LC/MS blue dye hydrolysis evaluation (2013) (0)
An exploration of knowledge, risk perceptions, and communication in a family with multiple genetic risks for Parkinson's disease. (2023) (0)
The importance of astrocytes in the pathophysiology of GBA1-associated Parkinson disease (2018) (0)
Three Biochemical Subtypes in Type I Carbohydrate-Deficient Glycoprotein Syndrome (CDGS). • 614 (1997) (0)
Methylomic and whole transcriptome analyses reveal several potential modifier genes in GBA1-associated Parkinson disease (2019) (0)
Figure 1, Enzymatic reactions catalyzed by GCase in assays (2013) (0)
A controversy in Parkinsonism research (2019) (0)
Figure 10, DNJ did not show GAA translocation activity in Pompe fibroblasts (left panels are untreated and right panels are DNJ 20 μM) (2013) (0)
108 Mutant glucocerebrosidase and the synucleinopathies (2007) (0)
Related articles (2015) (0)
The use of saposin C and phosphatidylserine in functional studies of glucocerebrosidase (2011) (0)
Figure 7, GAA specific activity of this patient having p.Y455C/p.G638W mutations (2013) (0)
The neurobiology of glucocerebrosidase associated PD: studies of dopamine synthesis and rCBF in GBA mutation carriers with and without parkinsonism (2011) (0)
Studies in primary and iPSC-derived human Gaucher macrophages demonstrate impaired macrophage function and defective autophagy (2014) (0)
A Prenatal Lethal Form of Type 2 Gaucher Disease Resulting from a Novel Frameshift Mutation in the Glucocerebrosidase Gene. † 632 (1997) (0)
Genome-Wide RNAi Screen For Lysosomal Storage Disorders (2012) (0)
Faculty Opinions recommendation of Will genotype drive treatment options? (2019) (0)
Figure 4, Performance of primary qHTS screen (2013) (0)
The genetics of Mendelian disorders is not always simple: Lessons from Gaucher disease (2019) (0)
Figure 3, Stability of ML247 in DPBS (pH 7.4) at room temperature over 48 hours (2013) (0)
Figure 1, Previously described inhibitory GAA chaperones (2013) (0)
Expression of GALT modulates glucocerebrosidase enzyme activity (2013) (0)
Table 9, Analogs with modifications at the molecular core (2011) (0)
Chaperone Therapy for the Lysosomal Storage Disorders (2014) (0)
Impaired phagosome maturation in Gaucher macrophages provides a new target for therapeutic intervention target (2017) (0)
215 – The Lysosomal Storage Diseases (2012) (0)
Glucosylsphingosine Accumulation in Type 2 Gaucher Disease Begins Early in Gestation (1999) (0)
Detecting secondary modifiers in -related Parkinsonism via variant calling in sibling pairs (2023) (0)
Faculty of 1000 evaluation for Human Astrocyte Maturation Captured in 3D Cerebral Cortical Spheroids Derived from Pluripotent Stem Cells. (2018) (0)
Figure 2, Chaperone activity of ML156/CID 9893924/NCGC00159568 and others using wildtype and homozygous, mutant N370S GC fibroblasts (2011) (0)
Scheme 4, Synthesis of analogs with a flexible linker (2011) (0)
Table 6, Inhibitory profile of GCase chaperone inhibitors illustrated in Figure 13 (2013) (0)
Figure 6, Capacity of inhibitors to maintain the function of acid alpha glucosidase after incubation at 66°C for 60 minutes (2013) (0)
Table 2, Activity of analogs with modifications on the indolin-2-one ring (2013) (0)
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias (2023) (0)
Table 6, Mice plasma and intestine levels for probe compound ML201 following oral gavage administration at 30 mg/kg in mice (2013) (0)
Reply to Drs. Beutler and Gelbart (1992) (0)
Faculty Opinions recommendation of Genomic Medicine-Progress, Pitfalls, and Promise. (2019) (0)
Scheme 2, Synthesis of purine analogs (2011) (0)
Table 1, List of all assays screened (2013) (0)
Faculty Opinions recommendation of Fetal gene therapy for neurodegenerative disease of infants. (2018) (0)
Figure 10, High magnification image of translocation experiment in a single cell with with 5 μM ML198 (2013) (0)
Figure 12, Clinically relevant small molecules for Gaucher disease (2013) (0)
Once again, rare diseases provide a spotlight. (2016) (0)
Figure 5, The hit CID 1512045 (1) was inactive in the counterscreens and had an AC50 of 14.1 μM in the primary screen (2013) (0)
Relationship between Gaucher disease and parkinsonism (2013) (0)
Table 11, Concentrations of CID9893924 in plasma, brain, liver and tail; intraperitoneal administration twice at a 12 hour interval of CID9893924 at 20mg/kg dose in male Swiss Albino Mice (mean and SD) (2011) (0)
Table 1, Activity of analogs with modifications on the aromatic ring attached to the piperazine (2013) (0)
Table 1, SAR of commercial quinazolines (2011) (0)
Figure 8, Concentration response profiles for probes ML198 and ML266 using 4-methylumbelliferyl-β-D-glucopyranoside (blue) as the substrate, with N370S spleen homogenate (2013) (0)
Table 1, Assay protocols and data deposited into PubChem (2011) (0)
Figure 4, Thermal stabilization of alpha-glucosidase functional activity following incubation at destabilizing temperatures (2013) (0)
Figure 12, Treatment of wt fibroblast with 15 μM (left panel) and of 5 μM (right panel) CID 36649951 (compound 22, table 2) (2013) (0)
Non-inhibitory small molecule chaperones of glucocerebrosidase (2013) (0)
The use of primary myotubes and fibroblasts for the evaluation of pharmacological chaperone therapy in Pompe disease (2013) (0)
Table 4, Analogs with sulfonamide aromatic modifications having a thiophene at the two position (2011) (0)
34. The contribution of lysosomal pathways to the pathogenesis of common neurodegenerative disorders: Glucocerebrosidase and the synucleinopathies (2008) (0)
Figure 9, Two representative fields showing profound restoration of lysosomal GAA in patient-derived fibroblasts (blue arrows), upon five day incubation with 20 μM probe compound ML247 (2013) (0)
Analysis of Two Novel Polymorphic Sites in the Glucocerebrosidase Gene Region in Patients with Gaucher Disease 739 (1998) (0)
Faculty of 1000 evaluation for Mechanisms of α-Synuclein Induced Synaptopathy in Parkinson's Disease. (2018) (0)
Table 8, Analogs with modification at the 2 position of the quinazoline core (2011) (0)
Table 2, Analogs with modifications at the core template (2013) (0)
Table 3, SAR table with further modifications to the core’s alkyl substiuent (2013) (0)
139. The identification of recombinant alleles in Gaucher disease using real-time PCR (2010) (0)
Figure 3, Stability of ML201 over time (2013) (0)
Patient-derived Gaucher induced pluripotent stem cells as a tool to understand common complex disorders (2018) (0)
Scheme 8, Synthesis of thiophene analogs with improved solubility (2011) (0)
Table 8, Liver pharmacokinetics in mouse of probe molecule ML247 (called NCGC00183885-01 in the image) upon single bolus IP administration of 50 mg/kg (2013) (0)
Diagnostic Dilemma: Gaucher Disease and Heart Failure of Unknown Origin. (2020) (0)
DIFFERENT SITES OF RECOMBINATION BETWEEN THE GLUCOCEREBROSIDASE GENE AND PSEUDOGENE IN PATIENTS WITH GAUCHER DISEASE. † 875 (1996) (0)
Table 4, SAR table with modifications to R1 of the molecule (2013) (0)
RNA-seq analysis in three Gaucher sib-pairs discordant for Parkinson disease (2021) (0)
Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions. (2011) (0)
Polygenic Parkinson's disease genetic risk score as risk modifier of parkinsonism in Gaucher disease (2022) (0)
Faculty Opinions recommendation of Impaired β-Glucocerebrosidase Activity and Processing in Frontotemporal Dementia Due to Progranulin Mutations (2020) (0)
Figure 13, Representative non imino sugar chaperone inhibitors discovered at the NIH Chemical Genomics Center (2013) (0)
Dopamine-Related Measurements From Both IPSC-Derived Dopaminergic Neurons and [18F]-FDOPA PET in Patients With Gaucher Disease With and Without Parkinsonism (2020) (0)
Behavioral and whole transcriptome analyses of a haploinsufficient Parkinson murine model (2022) (0)
Longitudinal behavioral characterization of Gaucher-associated Parkinson murine models (2020) (0)
Development of a novel neuronal cell model for investigating the link between glucocerebrosidase and Parkinson disease (2015) (0)
Cell-Based Evaluation of Small Molecules for Treatment of Pompe Disease (2012) (0)
Scheme 1, Synthesis of analogs with modifications on the aromatic ring attached to the piperazine (2013) (0)
Faculty of 1000 evaluation for Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation. (2018) (0)
Deficiency of β-glucocerebrosidase results in abnormal stratum corneum lamellar bilayer maturation (1993) (0)
Table 4, Mouse microsomal stability assays at 60 minutes (2013) (0)
291Type 2 Gaucher disease: Where do we go from here? (2017) (0)
Table 3, Activity of analogs with modifications on sulfonamide and piperazine moieties (2013) (0)
Glucocerebrosidase and its relevance to Parkinson disease (2019) (0)
Figure 7, Full concentration-response profiles of the best activators in the resorufin substrate and purified enzyme assay (2013) (0)

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