Citation Impact
Citing Papers
Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells
2013 StandoutScience
Guidelines for the Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack
2014 Standout
Distinct Genetic Signatures among Pilocytic Astrocytomas Relate to Their Brain Region Origin
2007
Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)
2020
Nucleoside-modified VEGFC mRNA induces organ-specific lymphatic growth and reverses experimental lymphedema
2021 StandoutNobel
Genome-scale DNA methylation maps of pluripotent and differentiated cells
2008 StandoutNature
Enzyme therapy for Gaucher disease: the first 5 years
1998
Significance of Planum Temporale and Planum Parietale Morphologic Features in Neurofibromatosis Type 1
2002
Update on the management of familial central nervous system tumor syndromes
2007
Molecular imaging in living subjects: seeing fundamental biological processes in a new light
2003 Standout
Special issues in the management of gliomas in children with neurofibromatosis 1
1996
Advances in Radiation Therapy for Brain Tumors
2007
Sphingolipid metabolism in cancer signalling and therapy
2017
The role of autophagy in neurodegenerative disease
2013 Standout
Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function
2009 Standout
The Failing Heart — An Engine Out of Fuel
2007 Standout
Sphingolipids and their metabolism in physiology and disease
2017 Standout
Marine natural products
1990 Standout
Drug discovery from natural sources
2006
Cushing's syndrome
2015 Standout
Glioblastoma and Other Malignant Gliomas
2013 Standout
Malignant astrocytic glioma: genetics, biology, and paths to treatment
2007 Standout
The Role of the Endoplasmic Reticulum in Peroxisome Biogenesis
2013 StandoutNobel
Aspirin plus Clopidogrel as Secondary Prevention after Stroke or Transient Ischemic Attack: A Systematic Review and Meta-Analysis
2014 Standout
Principles of bioactive lipid signalling: lessons from sphingolipids
2008 Standout
Neural-Tube Defects
1999 Standout
Peroxisomal bifunctional enzyme deficiency.
1989
Autophagy: Renovation of Cells and Tissues
2011 Standout
Parkinson's disease
2009 Standout
Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease
2001 Standout
Pharmacologic chaperoning as a strategy to treat Gaucher disease
2007
Mammalian display screening of diverse cystine-dense peptides for difficult to drug targets
2017 StandoutNobel
Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation
1999 Standout
Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis
1996
Natural history of neurofibromatosis 1–associated optic nerve glioma in mice
2004
Lysosomal storage disorders
2005
Advances in the treatment of neurofibromatosis-associated tumours
2013
The cornified envelope: a model of cell death in the skin
2005 Standout
Autophagy in the Pathogenesis of Disease
2008 Standout
Cancer stem cells and brain tumors: uprooting the bad seeds
2007
Peroxisomal disorders
1996
Peroxisomal fatty acid β-oxidation in HepG2 cells
1991
Optic pathway gliomas in children with neurofibromatosis 1: Consensus statement from the nf1 optic pathway glioma task force
1997
Malignant Gliomas in Adults
2008 Standout
The clinical impact of glycobiology: targeting selectins, Siglecs and mammalian glycans
2021 StandoutNobel
From carbohydrate leads to glycomimetic drugs
2009
Childhood Brain Tumors
2002
Correction of the Enzymatic and Functional Deficits in a Model of Pompe Disease Using Adeno-associated Virus Vectors
2002
Conjugation of Mannose 6-Phosphate-containing Oligosaccharides to Acid α-Glucosidase Improves the Clearance of Glycogen in Pompe Mice
2004
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
2002 Standout
Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy
2017
Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia
1996
Identification of PEX7 as the Second Gene Involved in Refsum Disease
2003
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Lipid signalling couples translational surveillance to systemic detoxification in Caenorhabditis elegans
2015 StandoutNobel
Substrate reduction therapy
2008
Autophagy and Mistargeting of Therapeutic Enzyme in Skeletal Muscle in Pompe Disease
2006
Cytochrome P450 ω-Hydroxylase Pathway of Tocopherol Catabolism
2002 Standout
Glycosphingolipids and drug resistance
2006
Peroxisome biogenesis disorders
2006
Lysosome-targeting chimaeras for degradation of extracellular proteins
2020 StandoutNatureNobel
Astrocyte-specific expression of CDK4 is not sufficient for tumor formation, but cooperates with p53 heterozygosity to provide a growth advantage for astrocytes in vivo
2002
Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy
2006
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
2006 Standout
Metabolic cardiomyopathies
2000
Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle
2008
Automatically Parcellating the Human Cerebral Cortex
2003 Standout
X‐ray structure of human acid‐β‐glucosidase, the defective enzyme in Gaucher disease
2003
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
Human cell lines for biopharmaceutical manufacturing: history, status, and future perspectives
2015
Guidelines for the Early Management of Patients With Acute Ischemic Stroke
2013 Standout
Familial café au lait spots: a variant of neurofibromatosis type 1.
1995
Sequential one-pot glycosylation with glycosyl N-trichloroacetylcarbamate and trichloroacetate including dehydrative approach using 1-hydroxy sugars
2011 StandoutNobel
Exosomes
2019 Standout
Nanozymes: Classification, Catalytic Mechanisms, Activity Regulation, and Applications
2019 Standout
The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature
2003
Lysosomal storage diseases
2016
The Enzymes, Regulation, and Genetics of Bile Acid Synthesis
2003 Standout
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
A vesicle carrier that mediates peroxisome protein traffic from the endoplasmic reticulum
2010 StandoutNobel
Integrated Genomic Analysis of Nodular Tissue in Macronodular Adrenocortical Hyperplasia: Progression of Tumorigenesis in a Disorder Associated with Multiple Benign Lesions
2011
Aggregation-Induced Emission: Together We Shine, United We Soar!
2015 Standout
The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
1997 Standout
Small molecule probes to quantify the functional fraction of a specific protein in a cell with minimal folding equilibrium shifts
2014 StandoutNobel
Ionizable lipid nanoparticles for in utero mRNA delivery
2021 StandoutNobel
Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System
2001 Standout
Proteomic Analysis Reveals Hyperactivation of the Mammalian Target of Rapamycin Pathway in Neurofibromatosis 1–Associated Human and Mouse Brain Tumors
2005
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset
2008
Second Primary Tumors in Neurofibromatosis 1 Patients Treated for Optic Glioma: Substantial Risks After Radiotherapy
2006
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy
2003
An Updated Definition of Stroke for the 21st Century
2013 Standout
Neurofibromatosis Type 1: Review of the First 200 Patients in an Australian Clinic
1993
Cancerous stem cells can arise from pediatric brain tumors
2003 Standout
Guidelines for the Prevention of Stroke in Patients With Stroke or Transient Ischemic Attack
2010 Standout
Juvenile Xanthogranuloma, Neurofibromatosis, and Juvenile Chronic Myelogenous Leukemia
1995
Familial Multiple Cafe au lait Spots
1994
Works of Joel Charrow being referenced
Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome
2003
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
2017
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
2007
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry
2002
Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry Disease
2007
Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase
1996
Neurofibromatosis type 1 in childhood
1990
Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann‐Pick type B
2007
Biochemical abnormalities in rhizomelic chondrodysplasia punctata
1988
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
2005
Natural history of optic pathway tumors in children with neurofibromatosis type 1: A longitudinal study
1994
Precocious puberty in children with neurofibromatosis type 1
1995
Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34
2000
Optic pathway tumors in children: The effect of neurofibromatosis type 1 on clinical manifestations and natural history
1995
Autosomal dominant multiple café‐au‐lait spots and neurofibromatosis‐1: Evidence of non‐linkage
1993
The Gaucher Registry
2000
Intracranial gliomas in neurofibromatosis type 1
1999
Optic gliomas in children with neurofibromatosis type 1
1989
Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
2001
Recombinant human acid ??-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
2001
Long‐term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment
2012
Gaucher disease and cancer incidence: a study from the Gaucher Registry
2005
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase
2012
Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.
1983
The Jansen type of metaphyseal chondrodysplasia: Confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult
1984
Late-onset optic pathway tumors in children with neurofibromatosis 1
2004