Citation Impact
Citing Papers
Persistent epigenetic differences associated with prenatal exposure to famine in humans
2008 Standout
Chromosome Abnormalities and Genetic Counseling
2011
Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer
2015 Standout
No association between insulin gene variation and adult metabolic phenotypes in a large Finnish birth cohort
2005
Variant Cystic Fibrosis Phenotypes in the Absence ofCFTRMutations
2002
Regulation of growth and metabolism by imprinted genes
2006
The insulin gene in diabetes
2002
SIFT web server: predicting effects of amino acid substitutions on proteins
2012 Standout
Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508delCFTR
2015 Standout
Pre-mRNA splicing and human disease
2003
Insulin gene variable number of tandem repeats is not associated with weight from fetal life until infancy: the Generation R Study
2007
Submicroscopic genomic alterations in Silver–Russell syndrome and Silver–Russell-like patients
2009
The history of cancer epigenetics
2004 Standout
Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency
2011
Differential Differences in Methylation Status of Putative Imprinted Genes among Cloned Swine Genomes
2012
Cystic fibrosis
2016 Standout
Back to Central Tolerance
2004 Standout
Rescue of ΔF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules
2006
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
The Generation R Study: design and cohort update 2010
2010 Standout
Childhood obesity: public-health crisis, common sense cure
2002 Standout
Effects of Gender and Age at Diagnosis on Disease Progression in Long-term Survivors of Cystic Fibrosis
2010
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Cancer stem cells revisited
2017 Standout
Development and developmental disorders of the human cerebellum
2003
British Thoracic Society guidelines for the management of non-tuberculous mycobacterial pulmonary disease (NTM-PD)
2017 Standout
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
2001
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Cleft lip and palate
2009 Standout
Brain injury in premature infants: a complex amalgam of destructive and developmental disturbances
2008 Standout
A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect
2013
Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period
2002
Circular RNAs are abundant, conserved, and associated with ALU repeats
2012 Standout
Cystic fibrosis genetics: from molecular understanding to clinical application
2014 Standout
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
2001
Insulin Gene Expression Is Regulated by DNA Methylation
2009
Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity
2001
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders
2008
Reprogramming and development in nuclear transfer embryos and in interspecific systems
2012 StandoutNobel
Epigenetic modifications and human disease
2010 Standout
Update on Key Emerging Challenges in Cystic Fibrosis
2014 Standout
Health Supervision for Children With Down Syndrome
2011 Standout
Hyperinsulinemia Drives Diet-Induced Obesity Independently of Brain Insulin Production
2012
Polycystic ovary syndrome
2016 Standout
Fatty acylation of Wnt proteins
2016
Adult-Onset Nesidioblastosis Causing Hypoglycemia
2001
Effect of In Utero and Early-Life Conditions on Adult Health and Disease
2008 Standout
Epigenetic Alterations of H19 and LIT1 Distinguish Patients with Beckwith-Wiedemann Syndrome with Cancer and Birth Defects
2002
An Official ATS/IDSA Statement: Diagnosis, Treatment, and Prevention of Nontuberculous Mycobacterial Diseases
2007 Standout
Pathophysiology and Management of Pulmonary Infections in Cystic Fibrosis
2003 Standout
Primary Ciliary Dyskinesia
2003
EDC-2: The Endocrine Society's Second Scientific Statement on Endocrine-Disrupting Chemicals
2015 Standout
Long Noncoding RNA and Cancer: A New Paradigm
2017 Standout
Advanced Glycation End Products
2006 Standout
Genetic approaches to the molecular understanding of type 2 diabetes
2002
Analysis of Multiple Data Sets Reveals No Association between the Insulin Gene Variable Number Tandem Repeat Element and Polycystic Ovary Syndrome or Related Traits
2005
A Conceptual History of Modern Embryology
1991
Adverse Health Consequences of Performance-Enhancing Drugs: An Endocrine Society Scientific Statement
2013 Standout
Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role ofPGC1andNRF1
2003 Standout
Insulin Receptor Isoforms and Insulin Receptor/Insulin-Like Growth Factor Receptor Hybrids in Physiology and Disease
2009
THE WNT SIGNALING PATHWAY IN DEVELOPMENT AND DISEASE
2004 Standout
The Insulin Gene Variable Number Tandem Repeat Class I/III Polymorphism Is in Linkage Disequilibrium With Birth Weight but Not Type 2 Diabetes in the Pima Population
2003
Insulin Resistance and the Polycystic Ovary Syndrome Revisited: An Update on Mechanisms and Implications
2012 Standout
Works of Emma Wakeling being referenced
Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues
1998
Evidence That Insulin is Imprinted in the Human Yolk Sac
2001
Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome
2000
Epigenotype–phenotype correlations in Silver–Russell syndrome
2010
X-linked inheritance of Dandy-Walker variant
2002
Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome
2009
Lung Disease Associated with the IVS8 5T Allele of the CFTR Gene
2000
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndrome
2008
Ionic control of beta cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade.
1996