Luitgard Graul‐Neumann

Author

Charité - Universitätsmedizin Berlin ORCID

Also Known As

Christophe Philippe, L Graul-Neumann, L Graul‐Neumann, L. Graul-Neumann, L. Graul‐Neumann, L.M. Graul-Neumann, Luitgard Graul-Neumann, Luitgard Graul‐Neumann, Luitgard M Graul-Neumann, Luitgard M. Graul-Neumann

Publications

2.7K

Citations

H-Index

Concepts

All Affiliations

Charité - Universitätsmedizin Berlin Max Planck Institute for Molecular Genetics Friedrich-Alexander-Universität Erlangen-Nürnberg RWTH Aachen University University of Lübeck

About

Luitgard Graul‐Neumann is an author at Charité - Universitätsmedizin Berlin specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	20	1.1K
2	Cell Biology	4	4	526
3	Health Sciences	2	2	279
4	Engineering	1	1	62
5	Biology	1	1	32

Luitgard Graul‐Neumann

Publications

2.6K

Citations

H-Index

Page 1

	Year	Citations
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome Tomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth, Science Translational Medicine	2014	259
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Nature Genetics Neurodegenerative DiseasesGenetic DisorderGeneticsDegenerative DiseaseMolecular Genetics	2012	257
Transcriptional regulator PRDM12 is essential for human pain perception Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa, Nature Genetics Pain SyndromeSignal TransductionHealth SciencesPain MedicineMolecular Pain	2015	170
Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement Miriam Schmidts, Heleen H. Arts, Ernie M.H.F. Bongers, Journal of Medical Genetics	2013	139
Digital necroses and vascular thrombosis in severe spinal muscular atrophy Sabine Rudnik‐Schöneborn, Silke Vogelgesang, Sven Armbrust, Muscle & Nerve Peripheral Nerve InjuryNeurological DisorderSural Nerve BiopsyPathologyDermatology	2010	109
47 patients with FLNA associated periventricular nodular heterotopia Max Lange, Burkhard S. Kasper, Axel Bohring, Orphanet Journal of Rare Diseases	2015	105
Pontocerebellar hypoplasia type 1 Sabine Rudnik‐Schöneborn, Jan Senderek, Joanna C. Jen, Neurology	2013	103
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos, Circulation Cardiovascular Genetics	2015	101
PEDIA: prioritization of exome data by image analysis Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Genetics in Medicine	2019	86
Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the <i>FBN1</i>‐gene Luitgard Graul‐Neumann, Tina Kienitz, Peter N. Robinson, American Journal of Medical Genetics Part A	2010	81

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