Citation Impact
Citing Papers
Low Renal Mineralocorticoid Receptor Expression at Birth Contributes to Partial Aldosterone Resistance in Neonates
2009
Selective delivery of β cell antigen to dendritic cells in vivo leads to deletion and tolerance of autoreactive CD8 + T cells in NOD mice
2008 StandoutNobel
Congenital Heart Disease in the General Population
2007 Standout
Chromosome Abnormalities and Genetic Counseling
2011
Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene
1992
Human Mineralocorticoid Receptor Genomic Structure and Identification of Expressed Isoforms
1995
The multiple murine 3β-hydroxysteroid dehydrogenase isoforms: Structure, function, and tissue- and developmentally specific expression
1997
Evaluation, Treatment, and Prevention of Vitamin D Deficiency: an Endocrine Society Clinical Practice Guideline
2011 Standout
Mechanisms of mindfulness
2005 Standout
Using PAC nested deletions to order contigs and microsatellite markers at the high repetitive sequence containing Npr3 gene locus
2001 StandoutNobel
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
2020 Standout
Molecular basis of human hypertension: Role of angiotensinogen
1992 Standout
WHO World Mental Health Surveys International College Student Project: Prevalence and distribution of mental disorders.
2018 Standout
Guidance for the identification of endocrine disruptors in the context of Regulations (EU) No 528/2012 and (EC) No 1107/2009
2018 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study
1998
Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies
2005
Obsessive-compulsive symptoms: the contribution of metacognitions and responsibility
2004
Williams–Beuren Syndrome
2010 Standout
A cognitive model of posttraumatic stress disorder
2000 Standout
Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect
2003
Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease
2008
Readability of self-report measures of depression and anxiety.
2009
A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16
1990
Association of tetralogy of Fallot with a distinct region of del22q11.2
2001
Echocardiographic findings in patients with Williams-Beuren syndrome
2006
A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes
1990 StandoutNature
Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes
1987
Importance of quantitative genetic variations in the etiology of hypertension
2000 StandoutNobel
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
2004
The epidemiology of obsessive-compulsive disorder in the National Comorbidity Survey Replication
2008 Standout
22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot
2013
Structure-function relationships of 3β-hydroxysteroid dehydrogenase: Contribution made by the molecular genetics of 3β-hydroxysteroid dehydrogenase deficiency
1997
Health Supervision for Children With Down Syndrome
2011 Standout
The neuropsychology of obsessive compulsive disorder: the importance of failures in cognitive and behavioural inhibition as candidate endophenotypic markers
2005
Zinc Finger Nuclease induced DNA double stranded breaks and rearrangements in MLL
2012
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
1990 StandoutNature
22q11.2 deletion syndrome
2015 Standout
Anxiety disorders: why they persist and how to treat them
1999
If it goes up, must it come down? Chronic stress and the hypothalamic-pituitary-adrenocortical axis in humans.
2007 Standout
Corticosteroid Receptor Genetic Polymorphisms and Stress Responsivity
2005
Treatment of obsessive–compulsive disorder: Cognitive behavior therapy vs. exposure and response prevention
2005
Innate immunity and intestinal microbiota in the development of Type 1 diabetes
2008 StandoutNature
The ced-8 Gene Controls the Timing of Programmed Cell Deaths in C. elegans
2000 StandoutNobel
A Novel 22q11.2 Microdeletion in DiGeorge Syndrome
1999
Ordering of Y-specific sequences by deletion mapping and analysis of X-Y interchange males and females
1987
Human Leukocyte Antigen-G5 Secretion by Human Mesenchymal Stem Cells Is Required to Suppress T Lymphocyte and Natural Killer Function and to Induce CD4+CD25highFOXP3+ Regulatory T Cells
2007 Standout
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
1997
Integration of human papillomavirus type 6a DNA in a tonsillar carcinoma: chromosomal localization and nucleotide sequence of the genomic target region.
1994 StandoutNobel
A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.
1993
B7x in the Periphery Abrogates Pancreas-Specific Damage Mediated by Self-reactive CD8 T Cells
2012 StandoutNobel
ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease
2008 Standout
Sex determination and sex differentiation in fish: an overview of genetic, physiological, and environmental influences
2002 Standout
The Human Y Chromosome: A 43-Interval Map Based on Naturally Occurring Deletions
1992 Science
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease: Executive Summary
2008 Standout
Nasal dimple as part of the 22q11.2 deletion syndrome
1997
A Rice Brassinosteroid-Deficient Mutant, ebisu dwarf (d2), Is Caused by a Loss of Function of a New Member of Cytochrome P450
2003 Standout
Dinucleotide repeat polymorphism in the human angiotensinogen gene
1991
Genetic identification of HSD-1, a conserved steroidogenic enzyme that directs larval development inCaenorhabditis elegans
2008 StandoutNobel
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease
2010
Individual Nonobese Diabetic Mice Exhibit Unique Patterns of CD8+ T Cell Reactivity to Three Islet Antigens, Including the Newly Identified Widely Expressed Dystrophia Myotonica Kinase
2004
Item Banks for Measuring Emotional Distress From the Patient-Reported Outcomes Measurement Information System (PROMIS®): Depression, Anxiety, and Anger
2011 Standout
Identification of a Second Pseudoautosomal Region Near the Xq and Yq Telomeres
1992 Science
Cognitive versus behavior therapy in the group treatment of Obsessive-Compulsive disorder.
2001
Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate
2004
A combination of the effects of rare genotypes at the XK and KEL blood group loci results in absence of Kell system antigens from the red blood cells
1996
Guided Internet-based vs. face-to-face cognitive behavior therapy for psychiatric and somatic disorders: a systematic review and meta-analysis
2014
Brain Corticosteroid Receptor Balance in Health and Disease*
1998 Standout
Practice Guideline for the Treatment of Patients With Obsessive-Compulsive Disorder
2008 Standout
Overview of Steroidogenic Enzymes in the Pathway from Cholesterol to Active Steroid Hormones
2004
Difference in gene expression between human fetal liver and adult bone marrow mesenchymal stem cells.
2005
Normal and abnormal interchanges between the human X and Y chromosomes
1987
Works of Norma Morrison being referenced
Regional chromosomal assignment of the Kell blood group locus (KEL) to chromosome 7q33-q35 by fluorescence in situ hybridization: evidence for the polypeptide nature of antigenic variation
1993
Responsibility attitudes and interpretations are characteristic of obsessive compulsive disorder
2000
Towards earlier diagnosis of 22q11 deletions
1999
Regional chromosomal assignment of the human mineralocorticoid receptor gene to 4q31.1
1990
Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation
1991
Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity
1995
Cloning and Chromosomal Localization of Human Cdc42-Binding Protein Kinase β
1999
The human 3β-hydroxysteroid dehydrogenase (3β-HSD) gene cluster on chromosome 1p13 contains a presumptive pseudogene; 3β-HSD and CYP17 do not segregate with dominantly inherited hirsutism
1995
Assignment of the human angiotensin gene to chromosome 1q42–q43 by nonisotopic in situ hybridization
1990
Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X- chromosome and autosomal sequences
1986
GROUP COGNITIVE THERAPY: TREATMENT OF CHOICE OR SUB-OPTIMAL OPTION?
2001
Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.
1996
Chromosome 22q11 microdeletions in tetralogy of Fallot.
1996
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions
2010