P
Peter Lichtner
Researcher at Ludwig Maximilian University of Munich
Publications - 14
Citations - 1374
Peter Lichtner is an academic researcher from Ludwig Maximilian University of Munich. The author has contributed to research in topics: Gene & DiGeorge syndrome. The author has an hindex of 11, co-authored 14 publications receiving 1195 citations. Previous affiliations of Peter Lichtner include University of California, San Diego.
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Journal ArticleDOI
GATA3 haplo-insufficiency causes human HDR syndrome.
H Van Esch,Peter M.A. Groenen,M A Nesbit,Simone Schuffenhauer,Peter Lichtner,Gert Vanderlinden,Brian Harding,Rolf Beetz,Rudolf W. Bilous,Ian M. Holdaway,Nick Shaw,J. P. Fryns,W.J.M. Van de Ven,Rajesh V. Thakker,Koenraad Devriendt +14 more
TL;DR: The results show that GATA3 is essential in the embryonic development of the parathyroids, auditory system and kidneys, and indicate that other GATA family members may be involved in the aetiology of human malformations.
Journal ArticleDOI
Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura S. Kremer,Daniel M. Bader,Daniel M. Bader,Christian Mertes,Robert Kopajtich,Garwin Pichler,Arcangela Iuso,Tobias B. Haack,Tobias B. Haack,Elisabeth Graf,Thomas Schwarzmayr,Caterina Terrile,Eliska Konafikova,Birgit Repp,Gabi Kastenmüller,Jerzy Adamski,Peter Lichtner,Christoph Leonhardt,Benoît Funalot,Alice Donati,Valeria Tiranti,Anne Lombès,Anne Lombès,Anne Lombès,Claude Jardel,Dieter Gläser,Robert W. Taylor,Daniele Ghezzi,Johannes A. Mayr,Agnès Rötig,Peter Freisinger,Felix Distelmaier,Tim M. Strom,Thomas Meitinger,Julien Gagneur,Julien Gagneur,Holger Prokisch +36 more
TL;DR: The power of transcriptome sequencing is demonstrated to molecularly diagnose 10% of mitochondriopathy patients and identify candidate genes for the remainder, and examples of intronic loss-of-function variants with pathological relevance are provided.
Journal ArticleDOI
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14
Peter Lichtner,Rainer König,Tomonobu Hasegawa,Hilde Van Esch,Thomas Meitinger,Simone Schuffenhauer +5 more
TL;DR: Molecular deletion analysis and clinical data suggest that the DGS/VCFS phenotype associated with 10p deletion can be considered as a contiguous gene syndrome owing to haploinsufficiency of two different regions.
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Genetic and structural characterization of the human mitochondrial inner membrane translocase
Matthias F. Bauer,Klaus Gempel,Andreas S. Reichert,Gudrun A. Rappold,Peter Lichtner,Klaus-Dieter Gerbitz,Walter Neupert,Michael Brunner,Sabine Hofmann +8 more
TL;DR: Biochemical characterization of the human Tim components revealed that hTim44 is localized in the matrix and, in contrast to yeast, only loosely associated with the inner membrane, and it is suggested that the structural organization of TIM23.17 preprotein translocases is conserved from low to high eukaryotes.
Journal ArticleDOI
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)
Simone Schuffenhauer,Peter Lichtner,Popak Peykar-Derakhshandeh,Jan Murken,Oskar A. Haas,Elke Back,Gerhard Wolff,Bernhard Zabel,Ingeborg Barišić,Anita Rauch,Zvi Borochowitz,Bruno Dallapiccola,Mark T. Ross,Thomas Meitinger +13 more
TL;DR: Interstitial and terminal deletions described are in the range of 10–50 cM and enable the tentative mapping of loci for ptosis and hearing loss, features which are not part of the DGS clinical spectrum.