Esther Gill - Concepedia

Author

Esther Gill

Charité - Universitätsmedizin Berlin

Also Known As

Esther Gill, Gill, Esther

Publications

427

Citations

H-Index

Concepts

All Affiliations

Charité - Universitätsmedizin Berlin Freie Universität Berlin Humboldt-Universität zu Berlin Amsterdam Neuroscience Berlin Institute of Health at Charité - Universitätsmedizin Berlin

About

Esther Gill is an author at Charité - Universitätsmedizin Berlin specializing in genetics, medicine, and mitochondrial medicine.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	185
2	Cell Biology	1	1	37
3	Molecular Biology	1	1	72
4	Molecular Genetics	1	1	37
5	Neurology	1	1	18

Esther Gill

Publications

400

Citations

H-Index

Page 1

	Year	Citations
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures Ellen Knierim, Hiromi Hirata, Nicole I. Wolf, The American Journal of Human Genetics Spinal Cord InjuryDevelopmental BiologyBone Morphogenic ProteinGenetic DisorderGenetics	2016	72
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness Ellen Knierim, Esther Gill, Franziska Seifert, Human Genetics Congenital MyopathyMendelian DisorderGenetic DisorderMedicineGenetics	2017	58
<i>POMK</i> mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability Anja von Renesse, Mina Petkova, Susanne Lützkendorf, Journal of Medical Genetics	2014	51
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia Gudrun Schottmann, Sylvie Picker‐Minh, Jana Marie Schwarz, Mitochondrion Mendelian DisorderMitochondrial FunctionMitochondrial DysfunctionMedicineGenetics	2017	37
Recessive truncating <i>IGHMBP2</i> mutations presenting as axonal sensorimotor neuropathy Gudrun Schottmann, Heinz Jungbluth, Ulrike Schara, Neurology	2015	35
Recessive <i>DEAF1</i> mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy Anna Rajab, Markus Schuelke, Esther Gill, Journal of Medical Genetics	2015	30
A movement disorder with dystonia and ataxia caused by a mutation in the <i>HIBCH</i> gene Gudrun Schottmann, Akosua Sarpong, Carmen Lorenz, Movement Disorders	2016	30
Characterization of a Dmd EGFP reporter mouse as a tool to investigate dystrophin expression Mina Petkova, Susanne Morales-Gonzalez, Karima Relizani, Skeletal Muscle	2016	25
Recessive <i>REEP1</i> mutation is associated with congenital axonal neuropathy and diaphragmatic palsy Gudrun Schottmann, Dominik Seelow, Franziska Seifert, Neurology Genetics	2015	21
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus Ellen Knierim, Dominik Seelow, Esther Gill, Mitochondrion Mendelian DisorderNeurogenomicsNeurological DisorderMedicineGenetics	2014	18

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