Citation Impact
Citing Papers
Activity-Dependent Internalization of Smoothened Mediated by ß-Arrestin 2 and GRK2
2004 StandoutScienceNobel
Oxysterols stimulate Sonic hedgehog signal transduction and proliferation of medulloblastoma cells
2006
Formylglycine-generating enzyme binds substrate directly at a mononuclear Cu(I) center to initiate O 2 activation
2019 StandoutNobel
Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders
2011
Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta
2012
1 Developmental roles and clinical significance of Hedgehog signaling
2003
Function and Structure of a Prokaryotic Formylglycine-generating Enzyme
2008 StandoutNobel
Directing polymorph specific calcium carbonate formation with de novo protein templates
2023 StandoutNobel
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease
2016 Standout
Imaging beyond the proteome
2012 StandoutNobel
Dedicated Retinal Examination in Children Evaluated for Physical Abuse without Radiographically Identified Traumatic Brain Injury
2013
Memory Strategy Training in Children With Cerebral Infarcts Related to Sickle Cell Disease
2003
Genetic causes of fractures and subdural hematomas: fact versus fiction
2021
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
2013
Towards understanding the neuronal ceroid lipofuscinoses
2009
The role of autophagy in neurodegenerative disease
2013 Standout
Autoinflammatory Disease Reloaded: A Clinical Perspective
2010 Standout
Stem Cell Therapies in Clinical Trials: Progress and Challenges
2015 Standout
Early Formation of mRNP
2003 StandoutNobel
Molecular Basis of Vascular Anomalies
1998
The NLRP3 inflammasome instigates obesity-induced inflammation and insulin resistance
2011 Standout
Current concepts in the pathogenesis of urea cycle disorders
2010
Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development
1997 Standout
The Story of Rett Syndrome: From Clinic to Neurobiology
2007
The hedgehog signaling network
2003
Gene prioritization through genomic data fusion
2006
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy
2015
Angiogenesis in cancer and other diseases
2000 StandoutNature
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
1997 Standout
Evaluating Infants and Young Children With Multiple Fractures
2006
Extracellular Proteins Needed for C. elegans Mechanosensation
1996 StandoutNobel
Analysis of Missed Cases of Abusive Head Trauma
1999 Standout
Effective targeted gene ‘knockdown’ in zebrafish
2000 Standout
Pathophysiology of Premature Skin Aging Induced by Ultraviolet Light
1997 Standout
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
2003
Hypoxia and the extracellular matrix: drivers of tumour metastasis
2014 StandoutNobel
WNT signaling in bone homeostasis and disease: from human mutations to treatments
2013 Standout
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Visualization of Membrane Rafts Using a Perylene Monoimide Derivative and Fluorescence Lifetime Imaging
2007
Lysosomal storage disorders
2005
22R-Hydroxycholesterol and 9-cis-Retinoic Acid Induce ATP-binding Cassette Transporter A1 Expression and Cholesterol Efflux in Brain Cells and Decrease Amyloid β Secretion
2003
Toward a molecular understanding of skeletal development
1995
Chronic kidney disease and cardiovascular risk: epidemiology, mechanisms, and prevention
2013 Standout
Nonaccidental Head Injury in Infants — The “Shaken-Baby Syndrome”
1998 Standout
Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms
2008
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins
2008
Genetic evaluation of suspected osteogenesis imperfecta (OI)
2006
Genetic Basis for Congenital Heart Defects: Current Knowledge
2007
Sickle-cell disease
2010 Standout
Patterns of Verbal Long-Term and Working Memory Performance Reveal Deficits in Strategic Processing in Children With Frontal Infarcts Related to Sickle Cell Disease
2003
Mycobacterium tuberculosis Rv3406 Is a Type II Alkyl Sulfatase Capable of Sulfate Scavenging
2013 StandoutNobel
Intrinsically disordered proteins and biomineralization
2016
Prenatal Valproate Exposure and Risk of Autism Spectrum Disorders and Childhood Autism
2013 Standout
Substrate reduction therapy
2008
Molecular Mechanisms of Holoprosencephaly
1999
XBP1 Links ER Stress to Intestinal Inflammation and Confers Genetic Risk for Human Inflammatory Bowel Disease
2008 Standout
Endocrine functions of bone in mineral metabolism regulation
2008
Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis
2001
The Evaluation of Suspected Child Physical Abuse
2015 Standout
Child abuse—Controversies and imposters
1999
Evidence for an Expansion-Based Temporal Shh Gradient in Specifying Vertebrate Digit Identities
2004 Standout
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
2017 Standout
ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
2009 Standout
Fibroblast Growth Factor 23 and Risks of Mortality and End-Stage Renal Disease in Patients With Chronic Kidney Disease
2011 Standout
Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease
2009
Osteoprotegerin Inhibits Artery Calcification Induced by Warfarin and by Vitamin D
2001
Use of the LMA classic to secure the airway of a premature neonate with Smith-Lemli-Opitz syndrome: a case report.
2004
Directed and Systematic Differentiation of Cardiovascular Cells From Mouse Induced Pluripotent Stem Cells
2008 StandoutNobel
Gene Regulatory Networks and the Evolution of Animal Body Plans
2006 StandoutScience
Patched1 Regulates Hedgehog Signaling at the Primary Cilium
2007 StandoutScience
Aggregation-Induced Emission: Together We Shine, United We Soar!
2015 Standout
Mitochondrial Reactive Oxygen Species (ROS) and ROS-Induced ROS Release
2014 Standout
Fluorescence Lifetime Measurements and Biological Imaging
2010 Standout
Warfarin-Induced Artery Calcification Is Accelerated by Growth and Vitamin D
2000
Smoothened Signal Transduction Is Promoted by G Protein-Coupled Receptor Kinase 2
2006 StandoutNobel
SULFATASES AND HUMAN DISEASE
2005
Genetic identification of HSD-1, a conserved steroidogenic enzyme that directs larval development inCaenorhabditis elegans
2008 StandoutNobel
Mutations in the alpha 2(IV) basement membrane collagen gene of Caenorhabditis elegans produce phenotypes of differing severities.
1994
MALDI-TOF and cluster-TOF-SIMS imaging of Fabry disease biomarkers
2006
Frontiers, Opportunities, and Challenges in Biochemical and Chemical Catalysis of CO2 Fixation
2013 Standout
A targeted mutation at the known collagenase cleavage site in mouse type I collagen impairs tissue remodeling.
1995
Regulation of Adaptive Immunity by the Innate Immune System
2010 StandoutScience
Tracking Col1a1 RNA in Osteogenesis Imperfecta
2000
Autism spectrum disorders—A genetics review
2011
Part 14: Pediatric Advanced Life Support
2010 Standout
Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis
1996 StandoutNobel
Regulation of Rate of Cartilage Differentiation by Indian Hedgehog and PTH-Related Protein
1996 StandoutScience
Islet1 cardiovascular progenitors: a single source for heart lineages?
2007
Vascular Calcification
2008 Standout
Disruption of the mouse MRF4 gene identifies multiple waves of myogenesis in the myotome
1995 StandoutNobel
Mutations in the NSDHL gene, encoding a 3?-hydroxysteroid dehydrogenase, cause CHILD syndrome
2000
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
FGF-23: More than a regulator of renal phosphate handling?
2010
Structure, mechanism and regulation of pyruvate carboxylase
2008
Physiology of Microglia
2011 Standout
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Works of Robert D. Steiner being referenced
Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production
2000
Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects
2003
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study
2004
Cholesterol storage defect in RSH/Smith–Lemli–Opitz syndrome fibroblasts
2002
Long-term management of patients with urea cycle disorders
2001
The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome
2006
Clinical profile of a male with Rett syndrome
2005
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase
2008
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
2004
Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome
2001
Deficits in memory strategy use related to prefrontal dysfunction during early development: Evidence from children with phenylketonuria.
2001
Agalsidase Alfa and Kidney Dysfunction in Fabry Disease
2009
Klippel‐Trenaunay‐Weber syndrome associated with a 5:11 balanced translocation
1995
Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome
1998
Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta
1996
Osteogenesis Imperfecta
1992
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
2011
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA
2004
Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate
1999
Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?
2005
PHENOTYPIC VARIABILITY IN INDIVIDUALS WITH TYPE V OSTEOGENESIS IMPERFECTA WITH IDENTICAL IFITM5 MUTATIONS.
2013
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis
2013
Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study
2010
Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia
1998
Deficits in memory strategy use related to prefrontal dysfunction during early development: Evidence from children with phenylketonuria.
2001
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper‐IgD syndrome
2007
COL1A1/2 Osteogenesis Imperfecta
1993
Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria
2002
Cellular therapy for childhood neurodegenerative disease. Part I: rationale and preclinical studies
2008
Utility of Hepatic Transaminases in Children With Concern for Abuse
2013