Bernt Popp

3.2k citations

45 papers · 903 · h-index 17

Impact in

Genetics top 5%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetic and Kidney Cyst Diseases
Molecular Biology
- Chromatin Remodeling and Cancer
- Renal and related cancers

Papers in

Genetics 30
- Genetics and Neurodevelopmental Disorders 13
- Genomic variations and chromosomal abnormalities 11
- Genomics and Rare Diseases 11
- Genetic and Kidney Cyst Diseases 6
- Genetic Syndromes and Imprinting 3
Molecular Biology 27
- Renal and related cancers 7

Co-authors: André Reis (23 shared papers)Arif B. Ekici (13 shared papers)Juliane Hoyer (6 shared papers)Cornelia Kraus (10 shared papers)Christiane Zweier (6 shared papers)Anita Rauch (5 shared papers)Sabine Endele (3 shared papers)Antje Wiesener (3 shared papers)
Journals: European Journal of Human Genetics (6 papers)Scientific Reports (3 papers)European Journal of Medical Genetics (3 papers)Clinical Genetics (3 papers)Genetics in Medicine (2 papers)
Partner nations: Germany United States Switzerland

In The Last Decade

Bernt Popp

44 papers receiving 897 citations

Peers

Countries citing papers authored by Bernt Popp

Since Specialization

Citations

This map shows the geographic impact of Bernt Popp'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 Bernt Popp with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Bernt Popp more than expected).

Fields of papers citing papers by Bernt Popp

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Bernt Popp. 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 Bernt Popp. The network helps show where Bernt Popp may publish in the future.

Co-authors

The 25 scholars most cited alongside Bernt Popp, 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 Bernt Popp Line = papers co-authored together Bernt Popp links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 45 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability The American Journal of Human Genetics ·Juliane Hoyer, Arif B. Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Antje Wiesener, Eva Wohlleber, Andreas Dufke, Eva Rossier, Corinna Petsch, Markus Zweier, Ina Göhring, Alexander M. Zink, Gudrun Rappold, Evelin Schröck, Dagmar Wieczorek, Olaf Rieß, Hartmut Engels, Anita Rauch, André Reis	2012	173
2	De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females European Journal of Human Genetics ·Bernt Popp, Svein I. Støve, Sabine Endele, Line M. Myklebust, Juliane Hoyer, Heinrich Sticht, Silvia Azzarello‐Burri, Anita Rauch, Thomas Arnesen, André Reis	2014	63
3	Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features The American Journal of Human Genetics ·Anide Johansen, Rasim Özgür Rosti, Damir Musaev, Evan Sticca, Ricardo Harripaul, Maha S. Zaki, Ahmet Okay Çağlayan, Matloob Azam, Tipu Sultan, Tawfiq Froukh, André Reis, Bernt Popp, Iltaf Ahmed, Peter John, Muhammad Ayub, Tawfeg Ben‐Omran, John B. Vincent, Joseph G. Gleeson, Rami Abou Jamra	2016	61
4	Exome Pool-Seq in neurodevelopmental disorders European Journal of Human Genetics ·Bernt Popp, Arif B. Ekici, Christian T. Thiel, Juliane Hoyer, Antje Wiesener, Cornelia Kraus, André Reis, Christiane Zweier	2017	59
5	Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium Scientific Reports ·Bernt Popp, Mandy Krumbiegel, Janina Grosch, Annika Sommer, Steffen Uebe, Zacharias Kohl, Sonja Plötz, Michaela Farrell, Udo Trautmann, Cornelia Kraus, Arif B. Ekici, Reza Asadollahi, Martin Regensburger, Katharina Günther, Anita Rauch, Frank Edenhofer, Jürgen Winkler, Beate Winner, André Reis	2018	56
6	The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy Orphanet Journal of Rare Diseases ·Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp	2019	42
7	CUSHAW3: Sensitive and Accurate Base-Space and Color-Space Short-Read Alignment with Hybrid Seeding PLoS ONE ·Yongchao Liu, Bernt Popp, Bertil Schmidt	2014	38
8	Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene Behavioral and Brain Functions ·Inga Freunscht, Bernt Popp, Rainer Blank, Sabine Endele, Ute Moog, Holger Petri, Eva‐Christina Prott, André Reis, Jochen Rübo, Bernhard Zabel, Martin Zenker, Johannes Hebebrand, Dagmar Wieczorek	2013	37
9	The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals Genetics in Medicine ·Pia Zacher, (unknown), Frank Brandhoff, Tobias Bartolomaeus, Diana Le Duc, Martin Finzel, Anja Heinze, Susanne Horn, Chiara Klöckner, Gudrun Körber, Julia Hentschel, Malgorzata Kalita, Ilona Krey, Marina Nastainczyk-Wulf, Konrad Platzer, Johannes Rebstock, Bernt Popp, Mathias Stiller, Anne‐Christin Teichmann, Rami Abou Jamra, Johannes R. Lemke	2021	31
10	Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations Scientific Reports ·Andrea Wenzel, Janine Altmueller, Arif B. Ekici, Bernt Popp, Kurt Stueber, Hölger Thiele, Alois Pannes, Simon Staubach, Eduardo Salido, Peter Nüernberg, Richard Reinhardt, André Reis, Patrick Rump, Franz‐Georg Hanisch, Matthias T. F. Wolf, Michael S. Wiesener, Bruno Hüettel, Bodo B. Beck	2018	29
11	DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects Scientific Reports ·Kristin Kessler, Ina Wunderlich, Steffen Uebe, Nathalie Falk, Andreas Gießl, Johann Helmut Brandstätter, Bernt Popp, Patricia Klinger, Arif B. Ekici, Heinrich Sticht, Helmuth‐Günther Dörr, André Reis, Ronald Roepman, E Seemanová, Christian T. Thiel	2015	26
12	Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders European Journal of Human Genetics ·Julia Klau, Rami Abou Jamra, Maximilian Radtke, Henry Oppermann, Johannes R. Lemke, Skadi Beblo, Bernt Popp	2021	26
13	Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes Genetics in Medicine ·Ria Schönauer, Sebastian Baatz, Melanie Nemitz‐Kliemchen, Valeska Frank, Friederike Petzold, Sebastian Sewerin, Bernt Popp, Johannes Münch, Steffen Neuber, Carsten Bergmann, Jan Halbritter	2020	24
14	Is MED13L-related intellectual disability a recognizable syndrome? European Journal of Medical Genetics ·Pernille Mathiesen Tørring, Martin J. Larsen, Charlotte Brasch‐Andersen, Lotte Krogh, Maria Kibæk, Lone Walentin Laulund, Niels Ove Illum, Ulrike Dunkhase‐Heinl, Antje Wiesener, Bernt Popp, Giuseppe Marangi, Tina Duelund Hjortshøj, Jakob Ek, Ida Vogel, Naja Becher, Laura Roos, Marcella Zollino, Christina Fagerberg	2018	21
15	Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants Modern Pathology ·Bernt Popp, Ramona Erber, Cornelia Kraus, Georgia Vasileiou, Juliane Hoyer, Stefanie Burghaus, Arndt Hartmann, Matthias W. Beckmann, André Reis, Abbas Agaimy	2020	21
16	Prenatal diagnosis of HNF1B ‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? Prenatal Diagnosis ·Georgia Vasileiou, Juliane Hoyer, Christian T. Thiel, Jan Frederik Schaefer, Maren Zapke, Mandy Krumbiegel, Cornelia Kraus, Markus Zweier, Steffen Uebe, Arif B. Ekici, Michael Schneider, Michael S. Wiesener, Anita Rauch, Florian Faschingbauer, André Reis, Christiane Zweier, Bernt Popp	2019	19
17	Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition Journal of the American Society of Nephrology ·Karl X. Knaup, Thomas Hackenbeck, Bernt Popp, Johanna Stoeckert, Andrea Wenzel, Maike Büttner‐Herold, Frederick Pfister, Markus Schueler, Didem Seven, Annette M. May, Jan Halbritter, Hermann‐Josef Gröne, André Reis, Bodo B. Beck, Kerstin Amann, Arif B. Ekici, Michael S. Wiesener	2018	18
18	SWI/SNF protein expression status in fumarate hydratase–deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients Human Pathology ·Abbas Agaimy, Mahul B. Amin, Anthony J. Gill, Bernt Popp, André Reis, Daniel M. Berney, Cristina Magi‐Galluzzi, Mathilde Sibony, Steven C. Smith, Saul Suster, Kiril Trpkov, Ondřej Hes, Arndt Hartmann	2018	15
19	BDV Syndrome: an Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome The Journal of Clinical Endocrinology & Metabolism ·Elisabeth Bosch, Moritz Hebebrand, Bernt Popp, Theresa Penger, Bettina Behring, Helen Cox, Shelley Towner, Cornelia Kraus, William G. Wilson, Shagufta Khan, Mandy Krumbiegel, Arif B. Ekici, Steffen Uebe, Regina Trollmann, Joachim Woelfle, André Reis, Georgia Vasileiou	2021	14
20	A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings American Journal of Medical Genetics Part A ·Moritz Hebebrand, Georgia Vasileiou, Mandy Krumbiegel, Cornelia Kraus, Steffen Uebe, Arif B. Ekici, Christian T. Thiel, André Reis, Bernt Popp	2018	13

About Bernt Popp

Bernt Popp is a scholar working on Genetics, Molecular Biology, Surgery, Nephrology and Cell Biology, having authored 45 papers that have together received 903 indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (13 papers), Genomic variations and chromosomal abnormalities (11 papers), Genomics and Rare Diseases (11 papers), Renal and related cancers (7 papers), Genetic and Kidney Cyst Diseases (6 papers), Renal Diseases and Glomerulopathies (4 papers), Genetic Syndromes and Imprinting (3 papers) and Cancer Genomics and Diagnostics (3 papers). The work is most often cited by research in Genetics (413 citations), Molecular Biology (589 citations), Nephrology (44 citations), Pathology and Forensic Medicine (89 citations) and Cancer Research (66 citations). Bernt Popp has collaborated with scholars based in Germany, United States and Switzerland. Frequent co-authors include André Reis, Arif B. Ekici, Juliane Hoyer, Cornelia Kraus, Christiane Zweier, Anita Rauch, Sabine Endele, Antje Wiesener, Christian T. Thiel and Yongchao Liu. Their work appears in journals such as European Journal of Human Genetics, Scientific Reports, European Journal of Medical Genetics, Clinical Genetics and Genetics in Medicine.

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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Bernt Popp

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