Sixto García‐Miñaúr

Author

Sixto García‐Miñaúr

Also Known As

S Garcia-Minaur, S. García-Miñaur, Sixto Garcia-Minaur, Sixto Garcia-Miñaur, Sixto Garcia‐Miñaur, Sixto García-Miñaur, Sixto García-Miñaúr, Sixto García‐Minaur, Sixto García‐Miñaur, Sixto García‐Miñaúr

Publications

896

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario La Paz Centre for Biomedical Network Research on Rare Diseases Universidad Autónoma de Madrid Western General Hospital Children's Health Ireland at Crumlin

About

Sixto García‐Miñaúr is an author at Hospital Universitario La Paz specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	379
2	Molecular Genetics	2	2	59
3	Neurology	1	1	50
4	Obstetrics	1	1	47
5	Orthopaedics	1	1	28

Sixto García‐Miñaúr

Publications

651

Citations

H-Index

Page 1

	Year	Citations
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis Zandra A. Jenkins, Margriet van Kogelenberg, Tim Morgan, Nature Genetics Somatic VariantCancer PathologyMendelian DisorderGenetic DisorderGenetics	2008	195
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis Bregje W.M. van Bon, David A. Koolen, Renato Borgatti, Journal of Medical Genetics	2008	98
Frontometaphyseal dysplasia: Mutations in <i>FLNA</i> and phenotypic diversity Stephen P. Robertson, Zandra A. Jenkins, Timothy Morgan, American Journal of Medical Genetics Part A	2006	77
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2 Sixto García‐Miñaúr, Lampros A. Mavrogiannis, Sahan V. Rannan‐Eliya, European Journal of Human Genetics Cleidocranial DysplasiaDevelopmental AnomalyParietal ForaminaGenetic DisorderPathology	2003	50
Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques Valeria Romanelli, Heloisa Meneses, Luis Fernández, European Journal of Human Genetics Fine MappingRecombination BreakpointsGenetic DisorderGeneticsCongenital Disorders	2011	48
CDKN1C Mutations in HELLP/Preeclamptic Mothers of Beckwith–Wiedemann Syndrome (BWS) Patients Valeria Romanelli, Alberta Belinchón, Ángel Campos‐Barros, Placenta Genetic DisorderGeneticsCdkn1c MutationsGynecologyAbnormal Development	2009	47
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase Sarah M. Leiter, Victoria E R Parker, Alena Welters, European Journal of Endocrinology	2017	38
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism Valeria Romanelli, Julián Nevado, Mario F. Fraga, Journal of Medical Genetics	2010	33
Three new European cases of urofacial (Ochoa) syndrome Sixto García‐Miñaúr, F. Javier Oliver, Jose Maria Yanez, Clinical Dysmorphology UrologyNew European CasesClinical Case ReportUrinary ProblemsSurgical Pathology	2001	28
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr Eva Barroso, Virginia Pérez‐Carrizosa, I. García‐Recuero, American Journal of Medical Genetics Part A	2011	15

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