Jens Schallner - Concepedia

Author

Jens Schallner

University Hospital Carl Gustav Carus

Also Known As

Ben Renfroe, Jens C. Schallner, Jens Schallner, Maja von der Hagen, Schallner Jens, von der Hagen, Maja

Publications

1.2K

Citations

H-Index

Concepts

All Affiliations

University Hospital Carl Gustav Carus Technische Universität Dresden University of Lübeck Klinik und Poliklinik für Kinder- und Jugendmedizin University Hospital Schleswig-Holstein

About

Jens Schallner is an author at University Hospital Carl Gustav Carus specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	266
2	Engineering	1	1	55
3	Social Sciences	1	1	122
4	Cell Biology	1	1	122
5	Neurology	1	1	55

Jens Schallner

Publications

697

Citations

H-Index

Page 1

	Year	Citations
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy Alexandra Pinggera, Luisa Mackenroth, Andreas Rump, Human Molecular Genetics Autism Spectrum DisordersGeneticsSynaptic TransmissionDisease Gene IdentificationSynaptic Signaling	2017	122
Mutations in <i>EXOSC2</i> are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt Nataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, Journal of Medical Genetics	2016	91
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations Adeline Vanderver, Davide Tonduti, Ilana Kahn, American Journal of Medical Genetics Part A	2013	76
Diagnostic value of partial exome sequencing in developmental disorders Laura Gieldon, Luisa Mackenroth, Anne‐Karin Kahlert, PLoS ONE BioinformaticsDevelopmental AnomalyMendelian DisorderPsychiatryPartial Exome Sequencing	2018	60
Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children Elisa Nitz, Martin Smitka, Jens Schallner, Annals of Clinical and Translational Neurology	2021	60
Homozygous loss of <i>CHRNA7</i> on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia Volker Endris, Karl Hackmann, Teresa Neuhann, American Journal of Medical Genetics Part A Please NoteEngineeringChromosome 15Q13.3Online VersionGenetics	2010	55
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification Lena‐Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Journal of Human Genetics	2020	51
Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, Epilepsia	2017	48
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases Ana Westenberger, Christoph Max, Norbert Brüggemann, The Journal of Pediatrics Developmental AnomalyNew PresentationMendelian DisorderGenetic DisorderInherited Metabolic Disease	2016	29
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea Janina Sörmann, Marcus Schewe, Peter Proks, Nature Genetics	2022	28

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