Hempel, Maja Prof. Dr. med.Universität HeidelbergHeidelberg
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- Lenz, Dominic (2)
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Publications in heiBIB 
- Burkart, Sebastian: Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome : insight from a systematic literature-based study / Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel, 12 July 2025. - 9 S.
In: American journal of medical genetics, ISSN 1552-4833. (2025), Artikel-ID e64186, Seite 1-9
DOI: 10.1002/ajmg.a.64186
- Burkart, Sebastian: Phenotypical and genotypical expansion of autosomal-dominant KDM1A-related neurodevelopmental disorder spectrum : a case report / Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Mark… , 18 June 2025. - 5 S.
In: American journal of medical genetics, ISSN 1552-4833. (2025), online version of record before inclusion in an issue, Artikel-Nummer e64144, Seite 1-5
DOI: 10.1002/ajmg.a.64144
- Betzler, Isabel R.: Response to Downie et al. / Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garb… , 14 January 2025. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 48(2025), 1, Artikel-ID e12837, Seite 1-2
DOI: 10.1002/jimd.12837
- Burkart, Sebastian: Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome : insight from a systematic literature-based study / Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel, 28 Jan. 2025. - 19 S.
In: Research Square, ISSN 2693-5015. (2025) vom: Jan., Seite 1-19
DOI: 10.21203/rs.3.rs-5833554/v1
- Körfer, Daniel: Genetic variants in patients with multiple arterial aneurysms / Daniel Körfer, Caspar Grond-Ginsbach, Andreas S. Peters, Sebastian Burkart, Maja Hempel, Christian P… , 09 October 2024. - 8 S. : Tabellen
In: Langenbeck's archives of surgery, ISSN 1435-2451. 409(2024), Artikel-ID 304, Seite 1-8
DOI: 10.1007/s00423-024-03488-5
- Bloomfield, Madeleine: European Autism GEnomics Registry (EAGER) : protocol for a multicentre cohort study and registry / Madeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, Sarah Douglas, Pierre Violland, Roderik P… , 4 June 2024. - 10 S. : Illustrationen
In: BMJ open, ISSN 2044-6055. 14(2024), 6, Artikel-ID e080746, Seite 1-10
DOI: 10.1136/bmjopen-2023-080746
- Burkart, Sebastian: Genetisch-determinierte Prognose oder prognostisch-relevante Genetik? / Sebastian Burkart & Maja Hempel, 2024. - 11 S. : Illustrationen
In: Heidelberger Jahrbücher online, ISSN 2509-2464. 9(2024), Seite 133-143
DOI: 10.17885/heiup.hdjbo.2024.1.25080
- Betzler, Isabel R.: Comparative analysis of gene and disease selection in genomic newborn screening studies / Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garb… , September 2024. - 26 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 5 vom: Sept., Seite 945-970
DOI: 10.1002/jimd.12750
- Worthmann, Anna: Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use / Anna Worthmann, Julius Ridder, Sharlaine Y. L. Piel, Ioannis Evangelakos, Melina Musfeldt, Hannah Vo… , 02 January 2024. - 13 S.
In: Nature Communications, ISSN 2041-1723. 15(2024), Artikel-ID 45, Seite 1-13
DOI: 10.1038/s41467-023-44364-y
- Hammann, Nicole Irene: Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease / Nicole Hammann, Dominic Lenz, Ivo Baric, Ellen Crushell, Carlo Dionisi Vici, Felix Distelmaier, Fran… , March 2024. - 10 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3 vom: März, Artikel-ID 108118, Seite 1-10
DOI: 10.1016/j.ymgme.2023.108118
- Lenz, Dominic: Genetic landscape of pediatric acute liver failure of indeterminate origin / Dominic Lenz, Lea D. Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, … , May 2024. - 13 S. : Illustrationen
In: Hepatology, ISSN 1527-3350. 79(2024), 5 vom: Mai, Seite 1075-1087
DOI: 10.1097/HEP.0000000000000684
- Hempel, Maja: Die methodische (R)evolution in der humangenetischen Medizin : Chancen und Herausforderung / Maja Hempel, 2024-03-13. - 5 S.
In: Forum Marsilius-Kolleg, ISSN 2196-2839. 24(2024), 1, Seite 103-107
DOI: 10.11588/fmk.2024.24.103687
- Hempel, Maja: Richtig beraten : Patientenaufklärung in der Humangenetik / Maja Hempel & Stefan Bär, Februar 2024. - 8 S.
In: Ruperto Carola. 23(2024) vom: Feb., Seite 76-83
DOI: 10.17885/heiup.ruca.2024.23.24945
- Harms, Frederike Leonie: Correction: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias / Frederike L. Harms, Alexander J.M. Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Christian… , November 2023
In: Genetics in medicine, ISSN 1530-0366. 25(2023), 11 vom: Nov., Artikel-ID 100964, Seite 1
DOI: 10.1016/j.gim.2023.100964
- Terhal, Paulien: AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia / Paulien Terhal, Anton J. Venhuizen, Davor Lessel, Wen-Hann Tan, Abdulrahman Alswaid, Regina Grün, Ha… , 7 September 2023. - 12 S. : Illustrationen
In: The American journal of human genetics, ISSN 1537-6605. 110(2023), 9 vom: Sept., Seite 1470-1481
DOI: 10.1016/j.ajhg.2023.07.011
- Ven, Amelie T. van der: Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease / Amelie T. van der Ven, Alfredo Cabrera-Orefice, Isabell Wente, René G. Feichtinger, Konstantinos Tsi… , 10 August 2023. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 140(2023), 3 vom: Nov., Artikel-ID 107675, Seite 1-8
DOI: 10.1016/j.ymgme.2023.107675
- Harms, Frederike Leonie: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias / Frederike L. Harms, Alexander J.M. Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Christian… , 6 July 2023. - 19 S. : Illustrationen
In: Genetics in medicine, ISSN 1530-0366. 25(2023), 10 vom: Okt., Artikel-ID 100927, Seite 1-19
DOI: 10.1016/j.gim.2023.100927
- Erhart, Philipp: Genetic variation in LRP1 associates with Stanford Type B aortic dissection risk and clinical outcome / Philipp Erhart, Daniel Körfer, Caspar Grond-Ginsbach, Jia-Lu Qiao, Moritz S. Bischoff, Maja Hempel, … , 5 January 2022. - 8 S.
In: Journal of cardiovascular development and disease, ISSN 2308-3425. 9(2022), 1, Artikel-ID 14, Seite 1-8
DOI: 10.3390/jcdd9010014
- Demal, Till Joscha: Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype / Till Joscha Demal, Tasja Scholz, Helke Schüler, Jakob Olfe, Anja Fröhlich, Fabian Speth, Yskert von … , 16 March 2022. - 12 S.
In: Scientific reports, ISSN 2045-2322. 12(2022), Artikel-ID 4489, Seite 1-12
DOI: 10.1038/s41598-022-08476-7
- Oexle, Konrad: 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema : further characterization of the dup(5p13) syndrome / Konrad Oexle, Maja Hempel, Anna Jauch, Thomas Meitinger, Núria Rivera-Brugués, Sabine Stengel-Rutkow… , 4 January 2011. - 6 S.
In: European journal of medical genetics, ISSN 1878-0849. 54(2011), 3 vom: Mai/Juni, Seite 225-230
DOI: 10.1016/j.ejmg.2010.12.012
