Marco Tartaglia - Concepedia

Author

Marco Tartaglia

Also Known As

Benjamin Neel, Caroline Rooryck, Conny M. A. van Ravenswaaij‐Arts, David R. Adams, Diana Carli, Eric Klee, Eva Bermejo Sánchez, Francesca Clementina Radio, G. Casari, Hennekam, Raoul

676

Publications

26.4K

Citations

H-Index

248

Concepts

All Affiliations

Bambino Gesù Children's Hospital Istituto Superiore di Sanità Istituti di Ricovero e Cura a Carattere Scientifico Sapienza University of Rome Università Cattolica del Sacro Cuore

About

Marco Tartaglia is an author at Bambino Gesù Children's Hospital specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	54	127	13.1K
2	Natural Sciences	7	7	284
3	Engineering	5	5	603
4	Health Sciences	5	5	124
5	Education	1	1	94

Marco Tartaglia

290

Publications

21.2K

Citations

H-Index

Page 1

	Year	Citations
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg, Nature Genetics Molecular PhysiologySignal TransductionGenetic DisorderReceptor Tyrosine KinaseGenetics	2001	1.7K
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia Marco Tartaglia, Charlotte M. Niemeyer, Alessandra Fragale, Nature Genetics Hematological MalignancyChromatinSomatic VariantSomatic MutationsMedicine	2003	1K
PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity Marco Tartaglia, Kamini Kalidas, Adam Shaw, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsPathology	2002	783
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome Xonia Carvajal‐Vergara, Ana Sevilla, Sunita L. D’Souza, Nature Regenerative MedicineInduced Pluripotent Stem CellDevelopmental BiologyMedicineStem Cell Research	2010	695
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy Bhaswati Pandit, Anna Sárközy, L Pennacchio, Nature Genetics CardiomyopathyMendelian DisorderGenetic DisorderGeneticsGain-of-function Raf1 Mutations	2007	694
Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease Marco Tartaglia, Simone Martinelli, Lorenzo Stella, The American Journal of Human Genetics Somatic VariantGenetic DisorderGeneticsPathogenesisFunctional Consequences	2006	420
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair Viviana Cordeddu, Elia Di Schiavi, L Pennacchio, Nature Genetics Noonan-like SyndromeLoose Anagen HairGeneticsPathologyMolecular Genetics	2009	410
Somatically acquired <i>JAK1</i> mutations in adult acute lymphoblastic leukemia Elisabetta Flex, Valentina Petrangeli, Lorenzo Stella, The Journal of Experimental Medicine	2008	326
A restricted spectrum of NRAS mutations causes Noonan syndrome Ion Cristian Cirstea, Kerstin Kutsche, Radovan Dvorský, Nature Genetics Restricted SpectrumMendelian DisorderAutoimmune DiseaseGenetic DisorderMedicine	2009	313
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, The American Journal of Human Genetics Neurodevelopmental DisordersMendelian DisorderEpigenetic ChangeGeneticsDna Methylation	2020	309

Page 1