Guntram Borck

9.1k total citations
65 papers, 1.7k citations indexed

About

Guntram Borck is a scholar working on Molecular Biology, Genetics and Surgery. According to data from OpenAlex, Guntram Borck has authored 65 papers receiving a total of 1.7k indexed citations (citations by other indexed papers that have themselves been cited), including 30 papers in Molecular Biology, 27 papers in Genetics and 7 papers in Surgery. Recurrent topics in Guntram Borck's work include Genetics and Neurodevelopmental Disorders (10 papers), Genomic variations and chromosomal abnormalities (9 papers) and Hearing, Cochlea, Tinnitus, Genetics (7 papers). Guntram Borck is often cited by papers focused on Genetics and Neurodevelopmental Disorders (10 papers), Genomic variations and chromosomal abnormalities (9 papers) and Hearing, Cochlea, Tinnitus, Genetics (7 papers). Guntram Borck collaborates with scholars based in Germany, France and United States. Guntram Borck's co-authors include Christian Kubisch, Laurence Colleaux, Arnold Münnich, Valérie Cormier‐Daire, Naseebullah Kakar, Jean‐Paul Bonnefont, Joachim Pohlenz, Rami Abou Jamra, Jamil Ahmad and André Reis and has published in prestigious journals such as The Journal of Experimental Medicine, The Journal of Clinical Endocrinology & Metabolism and The American Journal of Human Genetics.

In The Last Decade

Guntram Borck

64 papers receiving 1.7k citations

Peers

Guntram Borck

GENET

NEURO

Isabelle Russell‐Eggitt United Kingdom

Zehra Oya Uyguner Türkiye

Renaud Touraine France

Alessandra Murgia Italy

Bertrand Isidor France

Arnold Munnich France

Roberta Biancheri Italy

Julie A. Siegenthaler United States

Aldamaria Puliti Italy

Hope O. Sweet United States

Isabelle Russell‐Eggitt United Kingdom

Guntram Borck

1.1k ×1.2

1.0k ×1.5

GENET

219 ×1.1

133 ×0.9

GENET

59 ×0.4

NEURO

Citations per year, relative to Guntram Borck Guntram Borck (= 1×) peers Isabelle Russell‐Eggitt

Countries citing papers authored by Guntram Borck

Since Specialization

Citations

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

Fields of papers citing papers by Guntram Borck

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Guntram Borck

This figure shows the co-authorship network connecting the top 25 collaborators of Guntram Borck. A scholar is included among the top collaborators of Guntram Borck based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Guntram Borck. Guntram Borck is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Kakar, Naseebullah, Gandham SriLakshmi Bhavani, Manisha Goyal, et al.. (2024). Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias. Clinical Genetics. 106(1). 47–55. 1 indexed citations

Funcke, Jan‐Bernd, Guntram Borck, Belinda Lennerz, et al.. (2018). Functionality and Phenotypic Characteristics of Mutations in the Human Leptin Receptor. 1 indexed citations

Kortüm, Fanny, Rami Abou Jamra, Malik Alawi, et al.. (2018). Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. European Journal of Human Genetics. 26(5). 695–708. 23 indexed citations

Borck, Guntram, Jan‐Bernd Funcke, Katja Kohlsdorf, et al.. (2017). Estimated prevalence of potentially damaging variants in the leptin gene. PubMed. 4(1). 10–10. 19 indexed citations

Hashem, Mais, Rüstem Yilmaz, Muddathir H. Hamad, et al.. (2017). Mutations of PTPN23 in developmental and epileptic encephalopathy. Human Genetics. 136(11-12). 1455–1461. 13 indexed citations

Ludwig, Kerstin U., Anne C. Böhmer, Andrea Hofmann, et al.. (2016). Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene. PLoS Genetics. 12(3). e1005914–e1005914. 60 indexed citations

Désir, Julie, Naseebullah Kakar, Thomas D. Mueller, et al.. (2015). A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. Orphanet Journal of Rare Diseases. 10(1). 84–84. 16 indexed citations

Du, Likun, Torkild Visnes, Andrea Björkman, et al.. (2013). A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination. The Journal of Experimental Medicine. 210(12). 2503–2513. 29 indexed citations

Szakszon, Katalin, Carmelo Salpietro, Naseebullah Kakar, et al.. (2013). De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome. American Journal of Medical Genetics Part A. 161(4). 884–888. 26 indexed citations

10.

Lin, Lin, Guntram Borck, Dietrich Klingmüller, et al.. (2012). Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. European Journal of Endocrinology. 167(1). 125–130. 37 indexed citations

11.

Volk, Alexander E., Peter Herkenrath, Guntram Borck, et al.. (2011). Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.. PubMed. 17. 1978–86. 23 indexed citations

12.

Jamra, Rami Abou, Annick Raas‐Rothschild, Sebastian Eck, et al.. (2011). Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature. The American Journal of Human Genetics. 88(6). 788–795. 167 indexed citations

13.

Borck, Guntram, Peter Beighton, Christian Wilhelm, Jürgen Kohlhase, & Christian Kubisch. (2010). Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation. American Journal of Medical Genetics Part A. 152A(8). 2090–2093. 41 indexed citations

14.

Borck, Guntram, et al.. (2009). Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. European Journal of Medical Genetics. 52(4). 180–184. 20 indexed citations

15.

Borck, Guntram, Clarisse Baumann, Geneviève Baujat, et al.. (2009). Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. Journal of Medical Genetics. 47(12). 797–802. 79 indexed citations

16.

Borck, Guntram, Anahi Molla‐Herman, Nathalie Boddaert, et al.. (2008). Clinical, cellular, and neuropathological consequences ofAP1S2mutations: further delineation of a recognizable X-linked mental retardation syndrome. Human Mutation. 29(7). 966–974. 36 indexed citations

17.

Sanlaville, Damien, C Turleau, Guntram Borck, et al.. (2005). Molecular karyotyping in human constitutional cytogenetics. European Journal of Medical Genetics. 48(3). 214–231. 20 indexed citations

18.

Sanlaville, Damien, C Turleau, Joris Vermeesch, et al.. (2005). La CGH microarray : principe et applications en pathologie constitutionnelle. Archives de Pédiatrie. 12(10). 1515–1520. 4 indexed citations

19.

Rio, Marlène, Laurence Colleaux, Damien Sanlaville, et al.. (2004). Approche diagnostique du sujet présentant un retard mental sévère et syndromique. Archives de Pédiatrie. 11(6). 566–568. 1 indexed citations

20.

Borck, Guntram, et al.. (2003). Mutations in the PDS Gene in German Families with Pendred’s Syndrome: V138F Is a Founder Mutation. The Journal of Clinical Endocrinology & Metabolism. 88(6). 2916–2921. 26 indexed citations

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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