Thomas Meitinger
Technische Universität München
H-index: 166
Europe-Germany
Top articles of Thomas Meitinger
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center | International Journal of Neonatal Screening | Gwendolyn Gramer Saskia B Wortmann Junmin Fang-Hoffmann Dirk Kohlmüller Jürgen G Okun | 2024/2/27 |
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology | Nature | Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin | 2024/2/19 |
Bidirectional modulation of TCA cycle metabolites and anaplerosis by metformin and its combination with SGLT2i | Jonathan Adam Makoto Harada Marcela Covic Stefan Brandmaier Caroline Muschet | 2024/2/9 | |
Genetic landscape of pediatric acute liver failure of indeterminate origin | Hepatology | Dominic Lenz Lea D Schlieben Masaru Shimura Alyssa Bianzano Dmitrii Smirnov | 2024/5/1 |
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke | Genetics in Medicine | Theresa Brunet Benedikt Zott Victoria Lieftüchter Dominic Lenz Axel Schmidt | 2024/2/1 |
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT) | Kidney international | Korbinian M Riedhammer Thanh-Minh T Nguyen Can Koşukcu Julia Calzada-Wack Yong Li | 2024/4/1 |
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago | Neuropediatrics | Maureen Jacob Melanie Brugger Stephanie Andres Matias Wagner Elisabeth Graf | 2024/3/28 |
Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications | Nature Communications | Rosalie BTM Sterenborg Inga Steinbrenner Yong Li Melissa N Bujnis Tatsuhiko Naito | 2024/1/30 |
Targeted long-read sequencing of the Ewing sarcoma 6p25. 1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding | The American Journal of Human Genetics | Olivia W Lee Calvin Rodrigues Shu-Hong Lin Wen Luo Kristine Jones | 2023/3/2 |
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus | Nature human behaviour | Iain Mathieson Felix R Day Nicola Barban Felix C Tropf David M Brazel | 2023/5 |
Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci | Molecular psychiatry | Lisa de Las Fuentes Yun Ju Sung Raymond Noordam Thomas Winkler Mary F Feitosa | 2021/6 |
Genetic risk score for intracranial aneurysms: prediction of subarachnoid hemorrhage and role in clinical heterogeneity | Stroke | Mark K Bakker Jos P Kanning Gad Abraham Amy E Martinsen Bendik S Winsvold | 2023/3 |
Migraine, inflammatory bowel disease and celiac disease: A Mendelian randomization study | Headache: The Journal of Head and Face Pain | Nike Zoe Welander Gull Rukh Mathias Rask‐Andersen Aster VE Harder International Headache Genetics Consortium | 2023/5 |
Circulating metabolites modulated by diet are associated with depression | Molecular Psychiatry | Ashley van der Spek Isobel D Stewart Brigitte Kühnel Maik Pietzner Tahani Alshehri | 2023/9 |
The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome | Clinical Genetics | Bernt Popp Melanie Brugger Sibylle Poschmann Tobias Bartolomaeus Maximilian Radtke | 2023/2 |
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings | MedRxiv | Axel Schmidt Magdalena Danyel Kathrin Grundmann Theresa Brunet Hannah Klinkhammer | 2023/4/25 |
Genetic insights into resting heart rate and its role in cardiovascular disease | Nature communications | Yordi J van de Vegte Ruben N Eppinga M Yldau van der Ende Yanick P Hagemeijer Yuvaraj Mahendran | 2023/8/2 |
The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology | EUROPEAN JOURNAL OF HUMAN GENETICS | LD Schlieben D Lenz M Shimura A Bianzano D Smirnov | 2023 |
Multi-ancestry genome-wide study in> 2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications | medRxiv | Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin | 2023/3/31 |
Understanding the genetic complexity of puberty timing across the allele frequency spectrum | medRxiv | Katherine A Kentistou Lena R Kaisinger Stasa Stankovic Marc Vaudel Edson M de Oliveira | 2023/6/20 |
