Citation Impact
Citing Papers
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
2001 Science
Ror2 signaling regulates Golgi structure and transport through IFT20 for tumor invasiveness
2017 Standout
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
2008
WNT5A mutations in patients with autosomal dominant Robinow syndrome
2009
Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome
2007 StandoutNobel
Fatty acid 2-Hydroxylation in mammalian sphingolipid biology
2009
Autosomal Recessive Form of Congenital Cutis Laxa: More Than the Clinical Appearance
2002
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
1996 Standout
Receptor Specificity of the Fibroblast Growth Factor Family
1996 Standout
Expert Committee Recommendations Regarding the Prevention, Assessment, and Treatment of Child and Adolescent Overweight and Obesity: Summary Report
2007 Standout
Sphingolipids and their metabolism in physiology and disease
2017 Standout
The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure<SUBTITLE>The JNC 7 Report</SUBTITLE>
2003 Standout
The Receptor Tyrosine Kinase Ror2 Associates with and Is Activated by Casein Kinase Iϵ
2004
The Human Obesity Gene Map: The 2005 Update
2006
Childhood obesity: public-health crisis, common sense cure
2002 Standout
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nε-dimethyl lysine demethylase
2009 StandoutNobel
Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
2003 Standout
Exploring the molecular basis of Bardet-Biedl syndrome
2001
Angelman syndrome
1995
Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology
2004
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
2002 Standout
Prevalence of High Body Mass Index in US Children and Adolescents, 2007-2008
2010 Standout
Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci
2001
Recent advances: Recent advances in the genetics of severe childhood obesity
2000
Polygenic control of Caenorhabditis elegans fat storage
2006 StandoutNobel
Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin
2016 Standout
The central nervous system in the Apert syndrome
1990
Automated splicing mutation analysis by information theory
2005
Retinitis pigmentosa
2006 Standout
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
1995 Standout
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
1997 Standout
Health-Related Quality of Life of Severely Obese Children and Adolescents
2003 Standout
Angelman syndrome: a review of clinical and genetic aspects
1999
Phenotypes of the Tuberous Sclerosis Complex with a Revision of Diagnostic Criteria
1991
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
1994
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
2002 Standout
Cockayne syndrome: Review of 140 cases
1992
Tuberous sclerosis
2008 Standout
Expression and subcellular localization of Ror tyrosine kinase receptors are developmentally regulated in cultured hippocampal neurons
2003
Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism
2006
Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
1998
The receptor tyrosine kinase Ror2 is involved in non‐canonical Wnt5a/JNK signalling pathway
2003
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
2002
Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus
1995
The photoreceptor cell-specific nuclear receptor gene ( PNR ) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
2000
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome
2003
Insights into social insects from the genome of the honeybee Apis mellifera
2006 StandoutNature
Hypertrophic Cardiomyopathy
2002 Standout
The Human Obesity Gene Map: The 2001 Update
2002
A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
2007 Standout
Genotype differences in cognitive functioning in Noonan syndrome
2008
The Human Obesity Gene Map: The 2003 Update
2004
Obesity and the Regulation of Energy Balance
2001 Standout
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
1997 StandoutNature
Outcomes of Pediatric Patients With Hypertrophic Cardiomyopathy Listed for Transplant
2009
Systematic analysis of genes required for synapse structure and function
2005 StandoutNatureNobel
The oligogenic properties of Bardet-Biedl syndrome
2004
Cloning and Characterization of a Human β,β-Carotene-15, 15′-Dioxygenase That Is Highly Expressed in the Retinal Pigment Epithelium
2001
Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)
2004
Ror‐family receptor tyrosine kinases in noncanonical Wnt signaling: Their implications in developmental morphogenesis and human diseases
2009
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
2013 Standout
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
2017 Standout
The Human Obesity Gene Map: The 2004 Update
2005
Genetics of body-weight regulation
2000 Nature
Establishing a standard definition for child overweight and obesity worldwide: international survey
2000 Standout
Pathophysiology of Human Visceral Obesity: An Update
2013 Standout
Obesity and Cardiovascular Disease: Pathophysiology, Evaluation, and Effect of Weight Loss
2005 Standout
The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene
2007
Arsenite transport by mammalian aquaglyceroporins AQP7 and AQP9
2002 StandoutNobel
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
1999
Functional and molecular characterization of the human neutral solute channel aquaporin-9
1999
Hereditary palmoplantar keratoderma with deafness
1996
Yeast Nucleotide Excision Repair Proteins Rad2 and Rad4 Interact with RNA Polymerase II Basal Transcription Factor b (TFIIH)
1994 StandoutNobel
The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
1997 Standout
Diversifying Carotenoid Biosynthetic Pathways by Directed Evolution
2005 StandoutNobel
ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease: Executive Summary
2008 Standout
The extracellular matrix geneFrem1is essential for the normal adhesion of the embryonic epidermis
2004 StandoutNobel
Hereditary palmoplantar keratoderma with deafness
1996
Yeast nucleotide excision repair proteins Rad2 and Rad4 interact with RNA polymerase II basal transcription factor b (TFIIH).
1994 StandoutNobel
Obesity Evaluation and Treatment: Expert Committee Recommendations
1998
The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
1995
A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants.
1997
Aquaglyceroporin AQP9: Solute permeation and metabolic control of expression in liver
2003 StandoutNobel
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
1996
The Oxytocin Receptor System: Structure, Function, and Regulation
2001 Standout
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
A clinical study of Noonan syndrome.
1992
Gut hormone PYY3-36 physiologically inhibits food intake
2002 StandoutNature
Aquaporins in the Kidney: From Molecules to Medicine
2002 StandoutNobel
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Genetic aspects of tuberous sclerosis in the west of Scotland.
1989
Cockayne syndrome group B protein enhances elongation by RNA polymerase II
1997 StandoutNobel
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
1999 StandoutNobel
Works of M A Patton being referenced
Congenital cutis laxa with retardation of growth and development.
1987
Robinow syndrome
2002
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in theSPG4 (Spastin) gene
2003
Myocardial disarray in Noonan syndrome
1992
Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21
1997
Russell-Silver syndrome.
1988
Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome
1991
The EEG in early diagnosis of the Angelman (Happy Puppet) syndrome
1988
The natural history of Noonan syndrome: a long-term follow-up study
2006
Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.
1992
The clinical features of the Cohen syndrome: further case reports.
1985
The clinical spectrum of the Fraser syndrome: report of three new cases and review.
1987
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.
1989
Psychological profile of children with Noonan syndrome
2007
Reduced penetrance in tuberous sclerosis.
1985
Intellectual development in Apert's syndrome: a long term follow up of 29 patients.
1988
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
2008
Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.
1992