Yorck Hellenbroich - Concepedia

Author

Yorck Hellenbroich

University of Lübeck

Also Known As

Hellenbroich, Yorck, Martje Pauly, Y Hellenbroich, Y. Hellenbroich, Yorck Hellenbroich, Yorck Hellenbroich (483411)

Publications

2.7K

Citations

H-Index

Concepts

All Affiliations

University of Lübeck University of Tübingen Universität Hamburg Essen University Hospital University Medical Center Hamburg-Eppendorf

About

Yorck Hellenbroich is an author at University of Lübeck specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	23	1.9K
2	Social Sciences	4	4	613
3	Public Health	2	2	101
4	Engineering	1	1	15
5	Natural Sciences	1	1	57

Yorck Hellenbroich

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes Sabine Endele, Georg Rosenberger, Kirsten Geider, Nature Genetics Developmental BiologyMolecular NeuroscienceBrain DevelopmentNeuroanatomyGenetics	2010	502
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies Tobias Eisenberger, Christine Neuhaus, Arif O. Khan, PLoS ONE Cnv AnalysisGeneticsGenetic EpidemiologyPathologyDisease Gene Identification	2013	225
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics Claudia Dafinger, Max C. Liebau, Solaf M. Elsayed, Journal of Clinical Investigation Specific Brain MalformationDevelopmental BiologyMendelian DisorderJoubert SyndromeGenetic Disorder	2011	208
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia Christine Zühlke, Yorck Hellenbroich, Andreas Dalski, European Journal of Human Genetics Genetic DisorderMedicineGeneticsMolecular BiologyDegenerative Disease	2001	114
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias Andreas Dalski, Jassemien Atici, Friedmar R. Kreuz, European Journal of Human Genetics Inherited AtaxiasMendelian DisorderGenetic DisorderMedicineGenetics	2004	101
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene Almuth Caliebe, Hester Y. Kroes, Jasper J. van der Smagt, European Journal of Medical Genetics Hnrpu GeneGeneticsMotor SpeechMb DeletionNeuroscience	2010	78
Focal dystonia as a presenting sign of spinocerebellar ataxia 17 Johann Hagenah, Christine Zühlke, Yorck Hellenbroich, Movement Disorders Rare DiseasesMendelian DisorderCerebral AtrophyNeurological DisorderNeuroanatomy	2003	75
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, The American Journal of Human Genetics Allelic VariantVariable Brain AnomaliesGenetic DisorderGeneticsDe Novo Variants	2019	75
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors Stefanie Spiegler, Juliane Najm, Jian Liu, Molecular Genetics & Genomic Medicine	2014	71
Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles Christine Zühlke, Andreas Dalski, Yorck Hellenbroich, European Journal of Human Genetics Allelic VariantGenetic DisorderGeneticsNeurologyNeuroscience	2002	68

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