Margo L. Whiteford - Concepedia

Author

Margo L. Whiteford

Also Known As

M L WHITEFORD, M L Whiteford, M. L. Whiteford, M.L. Whiteford, ML Whiteford, Margo L Whiteford, Margo L. Whiteford, Margo L. Whiteford

Publications

2.6K

Citations

H-Index

Concepts

All Affiliations

Royal Children's Hospital Hospital for Sick Children Université de Bordeaux Murdoch Children's Research Institute Centre Hospitalier Universitaire de Bordeaux

About

Margo L. Whiteford is an author at Royal Children's Hospital specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	1.5K
2	Public Health	3	3	568
3	Cell Biology	1	1	24
4	Diabetes	1	1	50
5	Immunology	1	1	24

Margo L. Whiteford

Publications

2.4K

Citations

H-Index

Page 1

	Year	Citations
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities Lynn M. Boyden, Murim Choi, Keith A. Choate, Nature Molecular PhysiologyGeneticsPhysiologyElectrolyte AbnormalitiesMolecular Biology	2012	625
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
Heterogeneity among patients with tumor necrosis factor receptor–associated periodic syndrome phenotypes Ebun Aganna, L Hammond, Philip N. Hawkins, Arthritis & Rheumatism	2003	194
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel, The American Journal of Human Genetics Cause Floating-harbor SyndromeMolecular PhysiologySignal TransductionGeneticsMolecular Biology	2012	185
Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity Jangsuk Oh, Lingling Ho, Sirpa Ala‐Mello, The American Journal of Human Genetics	1998	161
Aetiopathology and genetic basis of neonatal diabetes: Table 1 Julian Hamilton‐Shield, R J Gardner, Emma Wadsworth, Archives of Disease in Childhood Fetal & Neonatal	1997	137
Outcome of Burkholderia (Pseudomonas) cepacia colonisation in children with cystic fibrosis following a hospital outbreak. Margo L. Whiteford, James D. Wilkinson, John H. McColl, Thorax	1995	129
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik, Orphanet Journal of Rare Diseases	2013	83
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype Elke Botzenhart, Andrew Green, Helena G. Ilyina, Human Mutation	2005	68
Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome Jeff M. Milunsky, Tom M. Maher, Geping Zhao, American Journal of Medical Genetics Part A GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification	2010	67

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