Publications by authors named "Mahdi Motazacker"

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Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.
Brandon Bresack, Laura Renée Kohl, Alexandra Afenjar, Frédérique Audic, Lydie Burglen, Mahdi Motazacker

Am J Hum Genet· December 2025

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Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.
Yousra El Ghaleb, Monica L Fernández-Quintero, Marta Campiglio, Petronel Tuluc, Ann-Sophie Höing, Mahdi M Motazacker

PLoS Genet· August 2025

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Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.
Michelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, Yi Ren, Yifan Yang, Mahdi Motazacker

medRxiv· June 2025

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A Novel De Novo Gain-of-Function Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Fabian Dannenberg, Arpad Von Moers, Petra Bittigau, Jörn Lange, Sylvia Wiegand, M Mahdi Motazacker

Neurol Genet· October 2024

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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Jennifer Kerkhof, Cassandra Rastin, Michael A Levy, Raissa Relator, Haley McConkey, M Mahdi Motazacker

Genet Med· May 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Mahdi M Motazacker

J Clin Invest· January 2024

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, M Mahdi Motazacker

Brain· September 2022

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Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21.
Paul J Hengeveld, Y Emre Ertem, Julie M N Dubois, Clemens H M Mellink, Anne-Marie van der Kevie-Kersemaekers, M Mahdi Motazacker

Leukemia· July 2022

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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Michael A Levy, David B Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, M Mahdi Motazacker

NPJ Genom Med· November 2021

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Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Michael A Levy, David B Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, M Mahdi Motazacker

NPJ Genom Med· November 2021

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Ilaria Parenti, Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, M Mahdi Motazacker

Hum Genet· July 2021

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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Muhammad A Usmani, Zubair M Ahmed, Pamela Magini, Victor Murcia Pienkowski, Kristen J Rasmussen, M Mahdi Motazacker

Am J Hum Genet· July 2021

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Médéric Jeanne, Hélène Demory, Aubin Moutal, Marie-Laure Vuillaume, Sophie Blesson, M Mahdi Motazacker

Am J Hum Genet· May 2021

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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.
Laurens F Reeskamp, Manon Balvers, Jorge Peter, Laura van de Kerkhof, Lisette N Klaaijsen, Mahdi M Motazacker

Atherosclerosis· March 2021

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Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Elizabeth S Barrie, Eline Overwater, Mieke M van Haelst, M Mahdi Motazacker, Kristen V Truxal

Am J Med Genet A· May 2020

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Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.
Elina Nikkola, Arthur Ko, Marcus Alvarez, Rita M Cantor, Kristina Garske, Mahdi M Motazacker

Atherosclerosis· September 2017

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A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity.
Mahdi M Motazacker, Juho Pirhonen, Julian C van Capelleveen, Marion Weber-Boyvat, Jan Albert Kuivenhoven

Atherosclerosis· June 2016

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BOD1 Is Required for Cognitive Function in Humans and Drosophila.
Sahar Esmaeeli-Nieh, Michaela Fenckova, Iain M Porter, M Mahdi Motazacker, Bonnie Nijhof

PLoS Genet· May 2016

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A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis.
Stephanie Maiwald, Mahdi M Motazacker, Julian C van Capelleveen, Suthesh Sivapalaratnam, Allard C van der Wal

Eur J Hum Genet· January 2016

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Age-related obesity and type 2 diabetes dysregulate neuronal associated genes and proteins in humans.
Mehran Rahimi, Manlio Vinciguerra, Mojtaba Daghighi, Behiye Özcan, Vishtaseb Akbarkhanzadeh, Mahdi M Motazacker

Oncotarget· October 2015

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Exome sequencing in suspected monogenic dyslipidemias.
Nathan O Stitziel, Gina M Peloso, Marianne Abifadel, Angelo B Cefalu, Sigrid Fouchier, M Mahdi Motazacker

Circ Cardiovasc Genet· April 2015

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RELN rare variants in myoclonus-dystonia.
Justus L Groen, Katja Ritz, Hamid Jalalzadeh, Sandra M A van der Salm, Aldo Jongejan, Mahdi M Motazacker

Mov Disord· March 2015

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Significance of surface charge and shell material of superparamagnetic iron oxide nanoparticle (SPION) based core/shell nanoparticles on the composition of the protein corona.
Usawadee Sakulkhu, Morteza Mahmoudi, Lionel Maurizi, Geraldine Coullerez, Margarethe Hofmann-Amtenbrink, Mahdi Motazacker

Biomater Sci· February 2015

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Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.
Stephanie Maiwald, Suthesh Sivapalaratnam, Mahdi M Motazacker, Julian C van Capelleveen, Ilze Bot

PLoS One· January 2015

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Ex situ evaluation of the composition of protein corona of intravenously injected superparamagnetic nanoparticles in rats.
Usawadee Sakulkhu, Lionel Maurizi, Morteza Mahmoudi, Mahdi Motazacker, Marcel Vries

Nanoscale· October 2014

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