Manuela Pendziwiat - Concepedia

Author

Manuela Pendziwiat

Christian-Albrechts-Universität zu Kiel ORCID

Also Known As

Caroline Nava, Elena Parrini, Manuela Pendziwiat, Michael Rademacher, Michele Pato, Pena, Loren D. M., Pendziwiat, Manuela, Sarah Kim Bonkat, Susanne Knake

Publications

3.7K

Citations

H-Index

Concepts

All Affiliations

Christian-Albrechts-Universität zu Kiel Children's Hospital of Philadelphia Hertie Institute for Clinical Brain Research University of Tübingen Tel Aviv University

About

Manuela Pendziwiat is an author at Christian-Albrechts-Universität zu Kiel specializing in medicine, neurogenetics, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	20	1.7K
2	Public Health	2	2	111
3	Engineering	1	1	48
4	Health Sciences	1	1	27
5	Natural Sciences	1	1	89

Manuela Pendziwiat

Publications

2.9K

Citations

H-Index

Page 1

	Year	Citations
De novo variants in neurodevelopmental disorders with epilepsy Henrike Heyne, Tarjinder Singh, Hannah Stamberger, Nature Genetics Neurodevelopmental DisordersGenetic DisorderNeurologyNeuroscienceAbnormal Development	2018	306
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, The American Journal of Human Genetics Allelic VariantUltra-rare Genetic VariationWhole-exome Sequencing StudyGeneticsGenetic Disorder	2019	298
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 Mark Corbett, Thessa Kroes, Liana Veneziano, Nature Communications	2019	154
Defining the phenotypic spectrum of <i>SLC6A1</i> mutations Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Epilepsia	2018	146
Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Brain	2021	138
<i>CHD2</i>variants are a risk factor for photosensitivity in epilepsy Elizabeth Galizia, Candace T. Myers, Costin Leu, Brain GeneticsGenetic EpidemiologyUnique Chd2 VariantsDisease Gene IdentificationSynaptic Signaling	2015	135
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy Ingo Helbig, Tania López-Hernández, Oded Shor, The American Journal of Human Genetics Epileptic EncephalopathySignal TransductionDevelopmental BiologyMolecular NeuroscienceMedicine	2019	129
Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules Xiaobo Bai, Jonathan R. Bowen, Tara K. Knox, The Journal of Cell Biology Synaptic TransmissionNeurotransmitterMolecular BiologyCytoskeletonCellular Neurobiology	2013	119
Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra, JAMA Neurology	2017	103
<i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures Rhys H. Thomas, Lin Mei Zhang, Gemma L. Carvill, Neurology	2015	98

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