MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34

by Dominik S. Westphal, Dominik S. Westphal, Stephanie Andres, Christine Makowski, Thomas Meitinger, Thomas Meitinger, Julia Hoefele
Published 2018-03-01

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and...

by Korbinian Maria Riedhammer, Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Matias Wagner, Matias Wagner, Thomas Meitinger, Thomas Meitinger, Julia Hoefele
Published 2017-11-01

Recent advances in the genetics of atrial fibrillation: from rare and common genetic variants to microRNA signaling

by Heidi Estner, Stefan Kääb, Thomas Meitinger, Reza Wakili, Moritz F. Sinner, Sebastian Clauss
Published 2011-12-01

Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder

by Theresa Brunet, Milena Radivojkov‐Blagojevic, Peter Lichtner, Verena Kraus, Thomas Meitinger, Matias Wagner
Published 2020-03-01

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.

by Anne Wöhlke, Ute Philipp, Patricia Bock, Andreas Beineke, Peter Lichtner, Thomas Meitinger, Ottmar Distl
Published 2011-10-01

Mitochondrial genetic variants identified to be associated with BMI in adults.

by Antònia Flaquer, Clemens Baumbach, Jennifer Kriebel, Thomas Meitinger, Annette Peters, Melanie Waldenberger, Harald Grallert, Konstantin Strauch
Published 2014-01-01

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration.

by Arcangela Iuso, Ody C M Sibon, Matteo Gorza, Katharina Heim, Cristina Organisti, Thomas Meitinger, Holger Prokisch
Published 2014-01-01

Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730]

by Jing Tan, Matias Wagner, Sarah L. Stenton, Tim M. Strom, Saskia B. Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock
Published 2020-11-01

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

by Jing Tan, Matias Wagner, Sarah L. Stenton, Tim M. Strom, Saskia B. Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock
Published 2020-04-01

Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins

by Martin Krenn, Margot Ernst, Matthias Tomschik, Marco Treven, Matias Wagner, Dominik S. Westphal, Thomas Meitinger, Ekaterina Pataraia, Fritz Zimprich, Susanne Aull‐Watschinger
Published 2019-11-01

Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels.

by Antònia Flaquer, Susanne Rospleszcz, Eva Reischl, Sonja Zeilinger, Holger Prokisch, Thomas Meitinger, Christa Meisinger, Annette Peters, Melanie Waldenberger, Harald Grallert, Konstantin Strauch
Published 2015-01-01

Generation of a human induced pluripotent stem cell line (HMGUi002-A) from a healthy male individual

by Xianming Wang, Andrzej R. Malinowski, Julia Beckenbauer, Johanna Siehler, Anna Blöchinger, Thomas Meitinger, Hans-Ulrich Häring, Harald Staiger, Ingo Burtscher, Heiko Lickert
Published 2019-08-01

Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene

by Xianming Wang, Shen Chen, Ingo Burtscher, Michael Sterr, Anja Hieronimus, Fausto Machicao, Harald Staiger, Hans-Ulrich Häring, Gabriele Lederer, Thomas Meitinger, Heiko Lickert
Published 2016-09-01

Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene

by Xianming Wang, Shen Chen, Ingo Burtscher, Michael Sterr, Anja Hieronimus, Fausto Machicao, Harald Staiger, Hans-Ulrich Häring, Gabriele Lederer, Thomas Meitinger, Heiko Lickert
Published 2016-09-01

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

by Martin Krenn, Alexej Knaus, Dominik S. Westphal, Saskia B. Wortmann, Tilman Polster, Friedrich G. Woermann, Michael Karenfort, Ertan Mayatepek, Thomas Meitinger, Matias Wagner, Felix Distelmaier
Published 2019-05-01

A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave.

by Claudia Lamina, Margot Haun, Stefan Coassin, Anita Kloss-Brandstätter, Christian Gieger, Annette Peters, Harald Grallert, Konstantin Strauch, Thomas Meitinger, Lyudmyla Kedenko, Bernhard Paulweber, Florian Kronenberg
Published 2014-01-01

A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter.

by Stefan Coassin, Natascha Hermann-Kleiter, Margot Haun, Simone Wahl, Rory Wilson, Bernhard Paulweber, Sonja Kunze, Thomas Meitinger, Konstantin Strauch, Annette Peters, Melanie Waldenberger, Florian Kronenberg, Claudia Lamina
Published 2020-01-01

Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

by Christian Gieger, Ludwig Geistlinger, Elisabeth Altmaier, Martin Hrabé de Angelis, Florian Kronenberg, Thomas Meitinger, Hans-Werner Mewes, H-Erich Wichmann, Klaus M Weinberger, Jerzy Adamski, Thomas Illig, Karsten Suhre
Published 2008-11-01

pulver: an R package for parallel ultra-rapid p-value computation for linear regression interaction terms

by Sophie Molnos, Clemens Baumbach, Simone Wahl, Martina Müller-Nurasyid, Konstantin Strauch, Rui Wang-Sattler, Melanie Waldenberger, Thomas Meitinger, Jerzy Adamski, Gabi Kastenmüller, Karsten Suhre, Annette Peters, Harald Grallert, Fabian J. Theis, Christian Gieger
Published 2017-09-01

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.

by Homa Attar, Karen Bedard, Eugenia Migliavacca, Maryline Gagnebin, Yann Dupré, Patrick Descombes, Christelle Borel, Samuel Deutsch, Holger Prokisch, Thomas Meitinger, Divya Mehta, Erich Wichmann, Jean Maurice Delabar, Emmanouil T Dermitzakis, Karl-Heinz Krause, Stylianos E Antonarakis
Published 2012-01-01