Citation Impact
Citing Papers
Growth Characteristics of Infantile Hemangiomas: Implications for Management
2008 Standout
Abdominal obesity and metabolic syndrome
2006 StandoutNature
Genetic Susceptibility
2013
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin‐4 gene mutation
2009
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type
2010
Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies
2014
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
2013
KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1
2017 Nature
The metabolic syndrome
2010 Standout
Mechanotransduction and extracellular matrix homeostasis
2014 Standout
Unraveling the mechanism of elastic fiber assembly: The roles of short fibulins
2010
Adipocytes as regulators of energy balance and glucose homeostasis
2006 StandoutNature
Angiogenesis: an organizing principle for drug discovery?
2007 Standout
Looking past the lump: genetic aspects of inguinal hernia in children
2009
mTOR at the nexus of nutrition, growth, ageing and disease
2020 Standout
Angiogenesis in health and disease
2003 Standout
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
2002 Standout
mTOR Signaling in Growth, Metabolism, and Disease
2017 Standout
From Genotype to Phenotype: The Differential Expression of FGF, FGFR, and TGFβ Genes Characterizes Human Cranioskeletal Development and Reflects Clinical Presentation in FGFR Syndromes
2001
Tuberculosis and lung damage: from epidemiology to pathophysiology
2018 StandoutNobel
The metabolic syndrome
2005 Standout
Extracellular matrix structure
2015 Standout
Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin
2016 Standout
Hemangiomas: Evaluation and Treatment
2001
Lipodystrophies: rare disorders causing metabolic syndrome
2004
What invasive procedure to use in early pregnancy?
2000
Periocular Hemangiomas: What Every Physician Should Know
2004
Remodelling the extracellular matrix in development and disease
2014 Standout
Insulin and insulin resistance:
2004 Standout
Acquired and Inherited Lipodystrophies
2004
SZT2 dictates GATOR control of mTORC1 signalling
2017 Nature
Extracellular Matrix Molecules: Potential Targets in Pharmacotherapy
2009
Hemangiomas of infancy
2003
Adipocyte differentiation from the inside out
2006 Standout
Vascular tumors of infancy and childhood: beyond capillary hemangioma
2006
22q11.2 deletion syndrome
2015 Standout
The Nonrandom Distribution of Facial Hemangiomas
2003
Hemangiomas in Children
1999
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
2017 Standout
Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
2019
Lipodystrophy: lessons in lipid and energy metabolism
2006
PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities
1996
Elastic fibres in health and disease
2013
The Fibroblast Growth Factor signaling pathway
2015 Standout
Diagnosis and Management of the Metabolic Syndrome
2005 Standout
Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase
2009
Genetic Basis of Lipodystrophies and Management of Metabolic Complications
2006
Increased transport of acetyl‐CoA into the endoplasmic reticulum causes a progeria‐like phenotype
2018
The extracellular matrix at a glance
2010 Standout
New insights into elastic fiber assembly
2007
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
1999
The Metabolic Syndrome
2008 Standout
Prospective Study of Infantile Hemangiomas: Demographic, Prenatal, and Perinatal Characteristics
2007
Insulin Resistance and the Polycystic Ovary Syndrome Revisited: An Update on Mechanisms and Implications
2012 Standout
A unique microvascular phenotype shared by juvenile hemangiomas and human placenta.
2001
Prospective Study of Infantile Hemangiomas: Clinical Characteristics Predicting Complications and Treatment
2006 Standout
Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal
2012 StandoutNobel
Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies
2015 Standout
Guidelines for the management of hemophilia
2012 Standout
Inherited lipodystrophies and the metabolic syndrome
2007
Evidence by molecular profiling for a placental origin of infantile hemangioma
2005
Works of Brad Angle being referenced
Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association
1998
Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome
2006
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
2011
An increased incidence of haemangiomas in infants born following chorionic villus sampling (CVS)
1995
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review
2000
Early‐life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants
2016