Bernd Auber

3.1k citations

48 papers · 492 indexed · h-index 13

Impact in

Genetics top 10%
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- BRCA gene mutations in cancer
- Neurogenetic and Muscular Disorders Research
Neurology
- Amyotrophic Lateral Sclerosis Research

Papers in

Genetics 22
- Genomics and Rare Diseases 10
- Genomic variations and chromosomal abnormalities 8
- Genetics and Neurodevelopmental Disorders 6
- BRCA gene mutations in cancer 5
Molecular Biology 25
- Congenital heart defects research 5
- DNA Repair Mechanisms 4
- CRISPR and Genetic Engineering 4

Co-authors: Peter Burfeind Knut Brockmann Moneef Shoukier Brigitte Schlegelberger Barbara Zoll Doris Steinemann Gunnar Schmidt Susanne Petri
Journals: Clinical Genetics (4 papers)European Journal of Human Genetics (2 papers)Frontiers in Pediatrics (2 papers)Acta Neuropathologica Communications (1 paper)JACC CardioOncology (1 paper)
Partner nations: Germany United States France

In The Last Decade

Bernd Auber

44 papers receiving 471 citations

Peers

Countries citing papers authored by Bernd Auber

Since Specialization

Citations

This map shows the geographic impact of Bernd Auber's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Bernd Auber with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Bernd Auber more than expected).

Fields of papers citing papers by Bernd Auber

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Bernd Auber. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Bernd Auber. The network helps show where Bernd Auber may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Bernd Auber, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Bernd Auber Line = papers co-authored together Bernd Auber links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Humangenetische Diagnostik bei onkologischen Erkrankungen Miriam Elbracht, Bernd Auber, Ingo Kurth, Albrecht Stenzinger, Christian P. Schaaf, Christopher Schroeder, (unknown)	2024	0
2	A holistic approach to maximise diagnostic output in trio exome sequencing Frontiers in Pediatrics ·Sandra von Hardenberg, A. Veber, Nasiroh Omar, Gunnar Schmidt, Bernd Auber	2023	5
3	Prevalence of pericardial effusion in autosomal dominant polycystic kidney disease Clinical Kidney Journal ·Mahmoud Yassin AlHamad, 秦翠青, Bernd Auber, Johannes Beller, Kai M. Schmidt‐Ott, Roland Schmitt, Fouzia Saeed	2023	1
4	Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children Pediatric Pulmonology ·مریم شریفیان ثانی, Axel Schmidt, Nicolaus Schwerk, Diane M. Renz, Bénédicte Gérard, Élise Schaefer, Maria Cristina Antal, Sophia Peters, Matthias Griese, Christina Rapp, Hartmut Engels, Kirsten Cremer, Anke K. Bergmann, Gunnar Schmidt, Bernd Auber, Jan C. Kamp, Florian Laenger, Sandra von Hardenberg	2023	7
5	Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry International Journal of Cardiology ·Tobias J. Pfeffer, Bernd Auber, Brigitte Pabst, V. E. Denisov, Dominik Berliner, Tobias König, Denise Hilfiker‐Kleiner, Johann Bauersachs, Melanie Ricke‐Hoch	2023	2
6	Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype Cells ·Masomeh Jabbari Amiri, Jan Hegermann, Bernd Auber, हरजौत सिंह सिद्धू, Sandra von Hardenberg, Ruth Olmer, Isabell Pink, Jessica Rademacher, Martin Wetzke, Felix C. Ringshausen	2023	2
7	Creation of a structured molecular genomics report for Germany as a local adaption of HL7’s Genomic Reporting Implementation Guide Journal of the American Medical Informatics Association ·Henry Castelo O, Julian Saß, Bernd Auber, Martin Boeker, Thomas F. Wienker, Andrew J Heidel, Manuela Benary, أسماء حاجي, Stephan Ossowski, Frederick Klauschen, 尚志黒井, LaurenceFriendPellTemple J. A.A. L.E. J.P. J., Sue Field, Wahyu HJ, Aurelie Tomczak, 杉山典, Sylvia Thun	2023	7
8	Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter Monatsschrift Kinderheilkunde ·Nadine Bachmann, Bernd Auber, Anibh M. Das, Felix Distelmaier, Heinz Gabriel, Nastassja Himmelreich, Johannes R. Lemke, Carsten Bergmann	2023	0
9	GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss PLoS Computational Biology ·Ernest Okwuonu, MARIANNA DOS REIS DE MORAES COSTA, Gunnar Schmidt, Seth Aycock, Sandra von Hardenberg, Anke Lesinski‐Schiedat, Wolfgang Nejdl, Bernd Auber	2022	3
10	Pulmonary Alveolar Microlithiasis: A novel patient and brief review of the literature Klinische Pädiatrie ·Antje Gardebrecht, Nicolaus Schwerk, مریم شریفیان ثانی, Qianshu Sun, 하상근, Astrining Aning Widiretno, L Geraci, Christian Dopfer, Bernd Auber, Sandra von Hardenberg, Christine Happle	2022	1
11	Pulmonary Cylindromas in CYLD Cutaneous Syndrome: A Rare Differential Diagnosis of Pulmonary Adenoid Cystic Carcinoma Clinical Lung Cancer ·Anatoly Rushay, Hans-Heinrich Kreipe, В. Е. Хализев, Sandra von Hardenberg, Bernd Auber, Christian Grohé, Ibiyemi Bukayo	2021	1
12	Plasma Metabolome Signature Indicative of BRCA1 Germline Status Independent of Cancer Incidence Frontiers in Oncology ·Judith Penkert, José Antônio Morselli Diniz, Martin Seifert, Bernd Auber, Katja Derlin, Bernhard Kr, Sophia Dørffer Hvalkof, Norman Klopp, Jana Prokein, Lisa Schlicker, Frank Wacker, A. Veber, Brigitte Schlegelberger, Karsten Hiller, Tim Ripperger, Thomas Illig	2021	3
13	De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia Clinical Genetics ·Iskandar Ajjan, Nasiroh Omar, Susanne Morlot, Gunnar Schmidt, Bernd Auber, 且弥小池, Gudrun Göhring, Tim Ripperger, Brigitte Schlegelberger, Winfried Hofmann, Thomas Smol, Emilie Ait‐Yahya, Anna Raimbault, Anne Lambilliotte, Florence Petit, Doris Steinemann	2020	5
14	Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis Stem Cell Research ·Kathrin Haake, Jasper A. J. Smits, Sylvia Merkert, Changsheng You, Gudrun Göhring, Bernd Auber, Ulrich Baumann, Nico Lachmann	2020	8
15	Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export European Journal of Human Genetics ·Maleri Seth, Eva‐Doreen Pfister, Ulrich Baumann, Marlies Eilers, Vera Schäffer, Thomas Illig, Bernd Auber, Brigitte Schlegelberger, Song Danyang, Holger Prokisch, S Bedkowski, Jens Bohne, Britta Skawran	2019	4
16	Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A American Journal of Medical Genetics Part A ·Monika M. Golas, Bernd Auber, Tim Ripperger, Brigitte Pabst, Gunnar Schmidt, Michel Morlot, Geisilene RP Silva, Doris Steinemann, Brigitte Schlegelberger, Susanne Morlot	2019	9
17	Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity Breast Cancer Research ·Judith Penkert, Gunnar Schmidt, Winfried Hofmann, Stephanie Schubert, Maximilian Schieck, Bernd Auber, Tim Ripperger, Karl Hackmann, Marc Sturm, Holger Prokisch, Bernhard Kr, 고성재, Thomas Illig, Brigitte Schlegelberger, Doris Steinemann	2018	6
18	A tandem duplication of BRCA1 exons 1–19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome Breast Cancer Research and Treatment ·Nasiroh Omar, 고성재, Barbara Wappenschmidt, P Martin-Nole, Brigitte Pabst, Saki Chan, Han Cao, Susanne Morlot, Caroline Scholz, Bernd Auber, Kerstin Rhiem, Rita K. Schmutzler, Thomas Illig, Brigitte Schlegelberger, Doris Steinemann	2018	11
19	Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia American Journal of Medical Genetics Part A ·Knut Brockmann, Heiko Backes, Bernd Auber, Thomas Kriebel, Danlotoma P. Kaïn, Barbara Zoll	2009	9
20	Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation Molecular Cytogenetics ·Bernd Auber, Eline Strøm-Gundersen, Barbara Zoll, Peter Burfeind, D. Madhukar, Thomas Liehr, Knut Brockmann, Ekkehard Wilichowski, K. Kuchitsu, Iris Bartels	2009	7

About Bernd Auber

Bernd Auber is a scholar working on Genetics, Molecular Biology, Cancer Research, Neurology and Immunology, having authored 48 papers that have together received 492 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (10 papers), Genomic variations and chromosomal abnormalities (8 papers), Genetics and Neurodevelopmental Disorders (6 papers), BRCA gene mutations in cancer (5 papers), Congenital heart defects research (5 papers), Immunodeficiency and Autoimmune Disorders (5 papers), DNA Repair Mechanisms (4 papers) and CRISPR and Genetic Engineering (4 papers). The work is most often cited by research in Genetics (223 citations), Genetics (40 citations), Neurology (44 citations), Molecular Biology (194 citations) and Cancer Research (40 citations). Bernd Auber has collaborated with scholars based in Germany, United States and France. Frequent co-authors include Peter Burfeind, Knut Brockmann, Moneef Shoukier, Brigitte Schlegelberger, Barbara Zoll, Doris Steinemann, Gunnar Schmidt, Susanne Petri, Ruthild G. Weber and Matthias Preller. Their work appears in journals such as Clinical Genetics, European Journal of Human Genetics, Frontiers in Pediatrics, Acta Neuropathologica Communications and JACC CardioOncology.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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