Citation Impact
Citing Papers
Adrenocortical Zonation in Humans under Normal and Pathological Conditions
2010
Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
2008
Phospholipid methylation controls Atg32‐mediated mitophagy and Atg8 recycling
2015 StandoutNobel
Structure of the PAPP-ABP5 complex reveals mechanism of substrate recognition
2022 StandoutNobel
S-adenosyl-L-homocysteine hydrolase and methylation disorders: Yeast as a model system
2012
Intersexuality and Gender Identity Differentiation
1999
Understanding adolescence as a period of social–affective engagement and goal flexibility
2012 Standout
Regulation of Alternative Splicing of Protein Kinase Cβ by Insulin
1995
A Multicenter Study of Women with Nonclassical Congenital Adrenal Hyperplasia: Relationship between Genotype and Phenotype
2000
Estrogen Receptors: How Do They Signal and What Are Their Targets
2007 Standout
Estrogen receptors and human disease
2006 Standout
Transgender people: health at the margins of society
2016 Standout
Measurement of Psychosexual Differentiation
2005
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
2010
Gender Development in Women with Congenital Adrenal Hyperplasia as a Function of Disorder Severity
2006
Sexual differentiation of the human brain: Relation to gender identity, sexual orientation and neuropsychiatric disorders
2011
Applying genomic and transcriptomic advances to mitochondrial medicine
2021
Cushing's syndrome
2015 Standout
Hallmarks of aging: An expanding universe
2023 Standout
Genetic and environmental determinants of non‐insulin‐dependent diabetes mellitus (NIDDM)
1992
Oxytocin and social motivation
2011
Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents
2017 Standout
Porphyrias
2010 Standout
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria
1998
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
2004
Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline
2016 Standout
Clinical implications of glucocorticoid metabolism by 11beta-hydroxysteroid dehydrogenases in target tissues
2001
Mitochondrial dysfunction induces RNA interference in C. elegans through a pathway homologous to the mammalian RIG-I antiviral response
2020 StandoutNobel
Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
2013 Standout
Regulation of Placental Development and Its Impact on Fetal Growth—New Insights From Mouse Models
2018
Androgen synthesis in adrenarche
2008
Adrenal disease in pregnancy
2011
Prenatal glucocorticoid programming of brain corticosteroid receptors and corticotrophin-releasing hormone: possible implications for behaviour
2001
Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings
2005
Differential regulation of insulin receptor substrates-1 and -2 (IRS-1 and IRS-2) and phosphatidylinositol 3-kinase isoforms in liver and muscle of the obese diabetic (ob/ob) mouse.
1997
Functional characterization of threeCYP21A2sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system
2008
Liquid biopsies come of age: towards implementation of circulating tumour DNA
2017 Standout
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
2003 StandoutNature
Listening to silence and understanding nonsense: exonic mutations that affect splicing
2002 Standout
Insulin signalling and the regulation of glucose and lipid metabolism
2001 StandoutNature
The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome
2004
Three Novel <i>CYP11B1</i> Mutations in Congenital Adrenal Hyperplasia due to Steroid 11Beta-Hydroxylase Deficiency in a Moroccan Population
2010
Autism
2013 Standout
Consensus Statement on Management of Intersex Disorders
2006 Standout
A Phase 2 Study of Chronocort, a Modified-Release Formulation of Hydrocortisone, in the Treatment of Adults With Classic Congenital Adrenal Hyperplasia
2014
Mutations in Steroid 21-Hydroxylase (CYP21)
1994
The hormone resistin links obesity to diabetes
2001 StandoutNature
Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy
2005
Biochemistry of Mitochondrial Coenzyme Q Biosynthesis
2017
Relationships between sex hormones assessed in amniotic fluid, and maternal and umbilical cord serum: What is the best source of information to investigate the effects of fetal hormonal exposure?
2004
Why Are Autism Spectrum Conditions More Prevalent in Males?
2011
Targeting ferroptosis as a vulnerability in cancer
2022 Standout
Perinatal Exposure to Low Levels of the Environmental Antiandrogen Vinclozolin Alters Sex-Differentiated Social Play and Sexual Behaviors in the Rat
2005
Diabetic cervical radiculoplexus neuropathy: a distinct syndrome expanding the spectrum of diabetic radiculoplexus neuropathies
2012
Cushing's syndrome
2006 Standout
Prevention of Type 2 Diabetes Mellitus by Changes in Lifestyle among Subjects with Impaired Glucose Tolerance
2001 Standout
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene
2002
22q11.2 deletion syndrome
2015 Standout
11β-Hydroxysteroid dehydrogenase: unexpected connections
2003
GENDER AND SEXUALITY IN CLASSIC CONGENITAL ADRENAL HYPERPLASIA
2001
Effect of In Utero and Early-Life Conditions on Adult Health and Disease
2008 Standout
Growth Abnormalities Associated with Adrenal Disorders and Their Management
2001
Diagnosis and Treatment of Primary Aldosteronism
2011
Quadruplex DNA: sequence, topology and structure
2006 Standout
Subjective health status in Norwegian patients with Addison’s disease*
2002
Effect of Treatment With Low Doses of Hydrocortisone and Fludrocortisone on Mortality in Patients With Septic Shock
2002 Standout
What is new in CDG?
2017
Phenotype-Genotype Correlations of 13 Rare CYP21A2 Mutations Detected in 46 Patients Affected with 21-Hydroxylase Deficiency and in One Carrier
2010
The N-terminal hydrophobic domain of P450c21 is required for membrane insertion and enzyme stability
1993
Ionizable Lipid Nanoparticles for In Vivo mRNA Delivery to the Placenta during Pregnancy
2023 StandoutNobel
Orthogonal Design of Experiments for Engineering of Lipid Nanoparticles for mRNA Delivery to the Placenta
2023 StandoutNobel
Xenoestrogen Action in Prostate Cancer: Pleiotropic Effects Dependent on Androgen Receptor Status
2005
EDC-2: The Endocrine Society's Second Scientific Statement on Endocrine-Disrupting Chemicals
2015 Standout
Diabetic Neuropathies
2005 Standout
Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
1998
Endocrine-Disrupting Chemicals: An Endocrine Society Scientific Statement
2009 Standout
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*
2000
GENETICS OF NON-INSULIN-DEPENDENT (TYPE-II) DIABETES MELLITUS
1996
Congenital Adrenal Hyperplasia
1987
Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society
2002
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
Oxidative Stress and Stress-Activated Signaling Pathways: A Unifying Hypothesis of Type 2 Diabetes
2002 Standout
The Caenorhabditis elegans ARIP-4 DNA helicase couples mitochondrial surveillance to immune, detoxification, and antiviral pathways
2022 StandoutNobel
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
2018
Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
2010
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Diabetic Neuropathies: Update on Definitions, Diagnostic Criteria, Estimation of Severity, and Treatments
2010 Standout
Premature Adrenarche—Normal Variant or Forerunner of Adult Disease?*
2000
Hormones and Endocrine-Disrupting Chemicals: Low-Dose Effects and Nonmonotonic Dose Responses
2012 Standout
The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline
2016 Standout
Non-Classical Congenital Adrenal Hyperplasia in Childhood
2016
Insulin Receptor Isoforms and Insulin Receptor/Insulin-Like Growth Factor Receptor Hybrids in Physiology and Disease
2009
Induction of Reproductive Tract Developmental Abnormalities in the Male Rat by Lowering Androgen Production or Action in Combination with a Low Dose of Diethylstilbestrol: Evidence for Importance of the Androgen-Estrogen Balance
2002
Four Novel Missense Mutations in the CYP21A2 Gene Detected in Russian Patients Suffering from the Classical Form of Congenital Adrenal Hyperplasia: Identification, Functional Characterization, and Structural Analysis
2006
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline
2019
11β-Hydroxysteroid Dehydrogenase Type 1: A Tissue-Specific Regulator of Glucocorticoid Response
2004
A Novel Homozygous Mutation inCYP11A1Gene Is Associated with Late-Onset Adrenal Insufficiency and Hypospadias in a 46,XY Patient
2008
daf-2 , an Insulin Receptor-Like Gene That Regulates Longevity and Diapause in Caenorhabditis elegans
1997 StandoutScienceNobel
Steroid 17α-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in theCYP17A1Gene
2009
Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society* Clinical Practice Guideline
2017 Standout
Diabetic Somatic Neuropathies
2004 Standout
Predicting Phenotype in Steroid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well Defined Patients from Southern Germany
2000
Insulin Resistance and the Polycystic Ovary Syndrome Revisited: An Update on Mechanisms and Implications
2012 Standout
Diabetic Neuropathy: A Position Statement by the American Diabetes Association
2016 Standout
Bisphenol-A and the Great Divide: A Review of Controversies in the Field of Endocrine Disruption
2009 Standout
Investigating the functional link between TMEM165 and SPCA1
2019 StandoutNobel
Gender Role Behavior, Sexuality, and Psychosocial Adaptation in Women with Congenital Adrenal Hyperplasia due toCYP21A2Deficiency
2009
Mechanisms of Alternative Pre-Messenger RNA Splicing
2003 Standout
Estrogen and Cognitive Functioning in Women
2003
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Works of Anna Wedell being referenced
Molecular Model of Human CYP21 Based on Mammalian CYP2C5: Structural Features Correlate with Clinical Severity of Mutations Causing Congenital Adrenal Hyperplasia
2006
Prenatal Dexamethasone Treatment of Children at Risk for Congenital Adrenal Hyperplasia: The Swedish Experience and Standpoint
2012
Naturally Occurring Mutants of Human Steroid 21-Hydroxylase (P450c21) Pinpoint Residues Important for Enzyme Activity and Stability
1998
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene
2006
Postoperative differentiation between unilateral adrenal adenoma and bilateral adrenal hyperplasia in primary aldosteronism by mRNA expression of the gene CYP11B2
2004
CYP21 mutations in simple virilizing congenital adrenal hyperplasia
2001
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
2015
Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia
2011
Screening for insulin receptor gene DNA polymorphisms associated with glucose intolerance in a Scandinavian population
1991
An Update on the Molecular Genetics of Congenital Adrenal Hyperplasia: Diagnostic and Therapeutic Aspects
1998
Synergistic Effect of Partially Inactivating Mutations in Steroid 21-Hydroxylase Deficiency1
1997
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment
1998
Early growth is not increased in untreated moderately severe 21‐hydroxylase deficiency
1995
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome
1998
An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia
1996
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia
2006
Functional Analysis of Two Recurrent Amino Acid Substitutions in theCYP21Gene from Italian Patients with Congenital Adrenal Hyperplasia
2004
Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene
1993
Long-Term Somatic Follow-Up of Prenatally Treated Children with Congenital Adrenal Hyperplasia1
1998
Prenatal treatment of congenital adrenal hyperplasia
2004
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study
2013
Response to Treatment in Patients with Partial Androgen Insensitivity due to Mutations in the DNA-Binding Domain of the Androgen Receptor
2000
Novel Mutations in CYP21 Detected in Individuals with Hyperandrogenism
2002
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo
2019
Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
2011
Not All Amino Acid Substitutions of the Common Cluster E6 Mutation inCYP21Cause Congenital Adrenal Hyperplasia
2005
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
2010
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
1997
Molecular Genetics of 21- Hydroxylase Deficiency
2010
Effects of Missense Mutations and Deletions on Membrane Anchoring and Enzyme Function of Human Steroid 21-Hydroxylase (P450c21)
1999
Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
1993
Sex-Typed Toy Play Behavior Correlates with the Degree of Prenatal Androgen Exposure Assessed byCYP21Genotype in Girls with Congenital Adrenal Hyperplasia
2002
RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis
2018
Cognitive Functions in Children at Risk for Congenital Adrenal Hyperplasia Treated Prenatally with Dexamethasone
2006
Molecular Approaches for the Diagnosis of 21-Hydroxylase Deficiency and Congenital Adrenal Hyperplasia
1996
[Prenatal diagnosis and treatment of adrenogenital syndrome. Prevent virilization of female fetuses].
1997
Failure of Cortisone Acetate Treatment in Congenital Adrenal Hyperplasia because of Defective 11β-Hydroxysteroid Dehydrogenase Reductase Activity*
1999
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
1994
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation
1994
Preserved Male Fertility Despite Decreased Androgen Sensitivity Caused by a Mutation in the Ligand-Binding Domain of the Androgen Receptor Gene1
2000
Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden
2014
Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and Scandinavian Patients
2008
Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles
1994
Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden
2014
DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets
2004
An Androgen Receptor Gene Mutation (E653K) in a Family with Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency as well as in Partial Androgen Insensitivity
2002
Molecular genetics of congenital adrenal hyperplasia (21‐hydroxylase deficiency): implications for diagnosis, prognosis and treatment
1998
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
1992
Prophylactic Adrenalectomy of a Three-Year-Old Girl with Congenital Adrenal Hyperplasia: Pre- and Postoperative Studies*
1997
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid
2015
Regulation of human insulin receptor RNA splicing invivo.
1994