Lesley C. Adès - Concepedia

Author

Lesley C. Adès

Also Known As

Ades, Lesley Carole, Australian Genomics Cardiac Flagship, Edwin P. Kirk, L Ades, L Ads, L Adès, L C Adès, L. Ades, L. Adès, L. Adès

130

Publications

8.6K

Citations

H-Index

Concepts

All Affiliations

Children's Hospital at Westmead The University of Sydney Women's and Children's Hospital Inserm Ghent University Hospital

About

Lesley C. Adès is an author at Children's Hospital at Westmead specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	24	28	4.3K
2	Public Health	4	4	1.1K
3	Health Sciences	1	1	80
4	Social Sciences	1	1	390
5	Allergy	1	1	80

Lesley C. Adès

Publications

7.5K

Citations

H-Index

Page 1

	Year	Citations
Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran‐Fadulu, Nature Genetics MechanobiologyPhysiologyCytoskeletonAortic AneurysmsSmooth Muscle α-Actin	2007	835
Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys, The American Journal of Human Genetics Marfan SyndromeMendelian DisorderGenetic DisorderMedicineGenetics	2007	593
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Maximilian Muenke, Karen W. Gripp, Donna M. McDonald‐McGinn, PubMed	1997	394
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination Karen W. Gripp, David Wotton, Michael C. Edwards, Nature Genetics Developmental BiologyMolecular NeuroscienceNeurogenomicsSignal TransductionTgif Cause Holoprosencephaly	2000	390
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection Marjolijn Renard, Catherine Francis, Rajarshi Ghosh, Journal of the American College of Cardiology Clinical ValidityAortic DiseasesGeneticsGenetic EpidemiologyAortic Dissection	2018	289
<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation Nicole Revençu, Laurence M. Boon, Antonella Mendola, Human Mutation	2013	282
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation Kimberly A. Aldinger, Ordan J. Lehmann, Louanne Hudgins, Nature Genetics Neurobiology Of DiseaseDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics	2009	280
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. David Mowat, Geoffrey David Hain Croaker, Daniel T. Cass, Journal of Medical Genetics Down SyndromeDevelopmental AnomalyDevelopmental BiologyMendelian DisorderShort Stature	1998	267
De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction Dianna M. Milewicz, John R. Østergaard, Leena Ala‐Kokko, American Journal of Medical Genetics Part A	2010	266
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, The American Journal of Human Genetics	2011	246

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