Citation Impact
Citing Papers
Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs
2022 StandoutNobel
Case Detection, Diagnosis, and Treatment of Patients with Primary Aldosteronism: An Endocrine Society Clinical Practice Guideline
2008 Standout
Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer
2015 Standout
The promise and challenge of therapeutic genome editing
2020 StandoutNatureNobel
Astrocytes: biology and pathology
2009 Standout
Mass spectrometry‐based metabolomics
2006 Standout
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography–mass spectrometry
2002
Congenital Glutamine Deficiency with Glutamine Synthetase Mutations
2005
A population-based study of the usefulness of screening for neuroblastoma
1996
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
2010
Graphical presentation of diagnostic information
2008
Neonatal screening for congenital adrenal hyperplasia
2009
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
2006
Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening
2000
Neuroblastoma: biological insights into a clinical enigma
2003 Standout
A Fifth of the Protein World: Rossmann-like Proteins as an Evolutionarily Successful Structural unit
2020
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
New Lanthanum (III) Complex – Synthesis, Characterization, and Cytotoxic Activity
2006
A Review: Radiographic Iodinated Contrast Media-Induced Thyroid Dysfunction
2014
Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
2013 Standout
Coumarins: Old Compounds with Novel Promising Therapeutic Perspectives
2010 Standout
Simultaneous determination of 12 steroids by isotope dilution liquid chromatography-photospray ionization tandem mass spectrometry
2006
Gas chromatography/flame ionisation detection mass spectrometry for the detection of endogenous urine metabolites for metabonomic studies and its use as a complementary tool to nuclear magnetic resonance spectroscopy
2006 StandoutNobel
Psychrophilic enzymes: hot topics in cold adaptation
2003 Standout
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
p73 is a human p53-related protein that can induce apoptosis
1997 StandoutNatureNobel
Adeno-associated virus vector as a platform for gene therapy delivery
2019 Standout
ESI‐MS/MS analysis of underivatised amino acids: a new tool for the diagnosis of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode
2003
Neuroblastoma
2007 Standout
CRISPR-Based Technologies for the Manipulation of Eukaryotic Genomes
2016 Standout
The Emerging p53 Gene Family
1999 StandoutNobel
The Diagnosis of Polycystic Ovary Syndrome during Adolescence
2015 Standout
Screening of Infants and Mortality Due to Neuroblastoma
2002
Mutations and polymorphisms in the human ornithine transcarbamylase gene
2002
Guidelines of the American Thyroid Association for the Diagnosis and Management of Thyroid Disease During Pregnancy and Postpartum
2011 Standout
Guidelines for the Treatment of Hypothyroidism: Prepared by the American Thyroid Association Task Force on Thyroid Hormone Replacement
2014 Standout
2016 American Thyroid Association Guidelines for Diagnosis and Management of Hyperthyroidism and Other Causes of Thyrotoxicosis
2016 Standout
2017 Guidelines of the American Thyroid Association for the Diagnosis and Management of Thyroid Disease During Pregnancy and the Postpartum
2017 Standout
Tandem Mass Spectrometry Improves the Accuracy of Free Thyroxine Measurements During Pregnancy
2007
Mass Spectrometry in the Clinical Laboratory
2001
Automated Metabolic Profiling and Interpretation of GC/MS Data for Organic Acidemia Screening: A Personal Computer-Based System.
1999
Pivoting the Plant Immune System from Dissection to Deployment
2013 StandoutScience
Metabolic Enzymes from Psychrophilic Bacteria: Challenge of Adaptation to Low Temperatures in Ornithine Carbamoyltransferase from Moritella abyssi
2003
Absence of p53 gene mutations in primary neuroblastomas.
1993
Field Trials of Plum Clones Transformed with the Plum pox virus Coat Protein (PPV-CP) Gene
2006
Newborn screening for inborn errors of metabolism: a systematic review.
1997
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
2018
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
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
Metabolomics – the link between genotypes and phenotypes
2002 Standout
The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline
2016 Standout
A systematic review and evaluation of the use of tumour markers in paediatric oncology: Ewing's sarcoma and neuroblastoma
2003
American Association of Clinical Endocrinologists, American College of Endocrinology, and Associazione Medici Endocrinologi Medical Guidelines for Clinical Practice for the Diagnosis and Management of Thyroid Nodules - 2016 Update Appendix
2016 Standout
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline
2019
The “Silent” Global Burden of Congenital Cytomegalovirus
2013
Human Cytomegalovirus Glycoprotein B Nucleoside-Modified mRNA Vaccine Elicits Antibody Responses with Greater Durability and Breadth than MF59-Adjuvanted gB Protein Immunization
2020 StandoutNobel
A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice
2016
METLIN
2005 Standout
Systematic reviews: CRD's guidance for undertaking reviews in health care
2010 Standout
Works of Mark McCann being referenced
Seven new mutations in the human ornithine transcarbamylase gene
1994
Comparison of Newborn Screening Protocols for Congenital Adrenal Hyperplasia in Preterm Infants
2014
Screening Newborns for Multiple Organic Acidurias in Dried Filter Paper Urine Samples: Method Development
1991
Detection of Cytomegalovirus DNA in Dried Blood Spots of Minnesota Infants Who Do Not Pass Newborn Hearing Screening
2009
‘Late Onset’ Ornithine Transcarbamylase Deficiency: Function of Three Purified Recombinant Mutant Enzymes
1997
Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia
2004
Phenylalanine and Tyrosine Quantification by Stable Isotope Dilution Liquid Chromatography–Mass Spectrometry from Filter Paper Blood Spots
1999
Neonatal Thyroid Function After Administration of IV Iodinated Contrast Agent to 21 Pregnant Patients
2008
Substrate-induced conformational change in a trimeric ornithine transcarbamoylase
1997
Quantification of orotic acid in dried filter-paper urine samples by stable isotope dilution
1995
Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry
2004
Methylmalonic acid quantification by stable isotope dilution gas chromatography-mass spectrometry from filter paper urine samples
1996
Comparison of One-Tier and Two-Tier Newborn Screening Metrics for Congenital Adrenal Hyperplasia
2012
Hepatic Glutamine Synthetase Deficiency in Fatal Hyperammonemia after Lung Transplantation
1997
First Report of Plum Pox Potyvirus in Ontario, Canada
2001
Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces ‘late onset’ hyperammonaemia
1997
Screening for Neuroblastoma at 3 Weeks of Age: Methods and Preliminary Results From the Quebec Neuroblastoma Screening Project
1990