Citation Impact
Citing Papers
Gene conversion in steroid 21-hydroxylase genes.
1990
Mass spectrometry‐based metabolomics
2006 Standout
Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care
2016
Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
1991
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
2010
Neonatal screening for congenital adrenal hyperplasia
2009
Cushing's syndrome
2015 Standout
Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline
2016 Standout
Normal Female Infants Born of Mothers with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency1
1999
Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
2013 Standout
Adrenal disease in pregnancy
2011
A Mutation (Pro-30 to Leu) inCYP21 Represents a Potential Nonclassic Steroid 21-Hydroxylase Deficiency Allele
1991
The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report
2008 Standout
Consensus Statement on Management of Intersex Disorders
2006 Standout
Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies
1999
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
2007
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
1992
The Diagnosis of Polycystic Ovary Syndrome during Adolescence
2015 Standout
The P450 Superfamily: Update on New Sequences, Gene Mapping, Accession Numbers, Early Trivial Names of Enzymes, and Nomenclature
1993 Standout
Phenotype-Genotype Correlations of 13 Rare CYP21A2 Mutations Detected in 46 Patients Affected with 21-Hydroxylase Deficiency and in One Carrier
2010
Difference in transcriptional activity of two homologous CYP21A genes.
1995
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
2003
Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess
1999
Homeostatic Responses in the Adrenal Cortex to the Absence of Aldosterone in Mice
2005 StandoutNobel
Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
1998
Endocrine and Paracrine Regulation of Birth at Term and Preterm*
2000 Standout
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*
2000
Sexual and Gender Minority Health: What We Know and What Needs to Be Done
2008 Standout
Newborn screening for inborn errors of metabolism: a systematic review.
1997
FEMINIZING GENITOPLASTY FOR CONGENITAL ADRENAL HYPERPLASIA: WHAT HAPPENS AT PUBERTY?
1999
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Phenotype-Genotype Correlation in 56 Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
2001
Sampling and energy evaluation challenges in ligand binding protein design
2017 StandoutNobel
Screening for hyperglycaemia in pregnancy: a rapid update for the National Screening Committee
2010 StandoutNobel
Comparing identified and statistically significant lipids and polar metabolites in 15‐year old serum and dried blood spot samples for longitudinal studies
2016
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
1990
Works of S. Kling being referenced
Guidelines for the Retention, Storage, and Use of Residual Dried Blood Spot Samples after Newborn Screening Analysis: Statement of the Council of Regional Networks for Genetic Services
1996
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
1988
Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
1988