Guntram Borck

9.1k citations

65 papers · 1.7k indexed · h-index 27

Molecular Biology top 10%
Genetics top 5%
Cell Biology top 10%
Genetics top 10%
Neurology top 5%

Co-authors: Christian Kubisch Laurence Colleaux Arnold Münnich Valérie Cormier‐Daire Naseebullah Kakar Jean‐Paul Bonnefont Joachim Pohlenz Rami Abou Jamra
Topics: Genetics and Neurodevelopmental Disorders (10 papers)Genomic variations and chromosomal abnormalities (9 papers)Hearing, Cochlea, Tinnitus, Genetics (7 papers)
Cited by: Genetics Sensory Systems Endocrine and Autonomic Systems
Journals: The Journal of Experimental Medicine The Journal of Clinical Endocrinology & Metabolism The American Journal of Human Genetics
Partner nations: Germany France United States

In The Last Decade

Guntram Borck

64 papers receiving 1.7k citations

Peers

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

#	Work	Indexed citations
1	Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias 2024 ·Clinical Genetics ·Naseebullah Kakar,(unknown),(unknown),Gandham SriLakshmi Bhavani,Manisha Goyal,Hitesh Shah,(unknown),Kushaljit Singh Sodhi,Christian Kubisch,Guntram Borck,Inusha Panigrahi,Katta M. Girisha,Uwe Kornak,Malte Spielmann	1
2	Functionality and Phenotypic Characteristics of Mutations in the Human Leptin Receptor 2018 ·(unknown),Jan‐Bernd Funcke,Guntram Borck,(unknown),Belinda Lennerz,Barbara Moepps,Peter Gierschik,Pamela Fischer‐Posovszky,Martin Wabitsch	1
3	Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 2018 ·European Journal of Human Genetics ·Fanny Kortüm,Rami Abou Jamra,Malik Alawi,Susan A. Berry,Guntram Borck,Katherine L. Helbig,Sha Tang,Dagmar Huhle,Georg Christoph Korenke,Malavika Hebbar,Anju Shukla,Katta M. Girisha,Maja Steinlin,(unknown),Martino Montomoli,Renzo Guerrini,Johannes R. Lemke,Kerstin Kutsche	23
4	Estimated prevalence of potentially damaging variants in the leptin gene 2017 ·PubMed ·(unknown),Guntram Borck,Jan‐Bernd Funcke,Katja Kohlsdorf,S. Brandt,Anke Hinney,Barbara Moepps,Peter Gierschik,Klaus‐Michael Debatin,Pamela Fischer‐Posovszky,Martin Wabitsch	19
5	Mutations of PTPN23 in developmental and epileptic encephalopathy 2017 ·Human Genetics ·(unknown),Mais Hashem,Rüstem Yilmaz,Muddathir H. Hamad,Naseebullah Kakar,Hölger Thiele,Stefan T. Arold,Harald Bode,Fowzan S. Alkuraya,Guntram Borck	13
6	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 2016 ·PLoS Genetics ·Kerstin U. Ludwig,(unknown),Anne C. Böhmer,(unknown),(unknown),(unknown),(unknown),(unknown),Andrea Hofmann,Michele Rubini,Khalid Aldhorae,Régine P.M. Steegers‐Theunissen,Augusto Rojas-Martı́nez,Rudolf Reiter,Guntram Borck,Michael Knapp,Mitsushiro Nakatomi,Daniel Graf,Elisabeth Mangold,Heiko Peters	60
7	A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia 2015 ·Orphanet Journal of Rare Diseases ·(unknown),Julie Désir,Naseebullah Kakar,Thomas D. Mueller,Birgit Budde,Christopher T. Gordon,Denise Horn,Petra Seemann,Guntram Borck	16
8	A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination 2013 ·The Journal of Experimental Medicine ·(unknown),Likun Du,Torkild Visnes,Andrea Björkman,(unknown),Josephine Wincent,Guntram Borck,Laurence Colleaux,Valérie Cormier‐Daire,Dik C. van Gent,Juan Pié,Beatriz Puisac,Noel F.C.C. de Miranda,Sven Kracker,Lennart Hammarström,Jean‐Pierre de Villartay,Anne Durandy,Jacqueline Schoumans,Lena Ström,Qiang Pan‐Hammarström	29
9	De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome 2013 ·American Journal of Medical Genetics Part A ·Katalin Szakszon,Carmelo Salpietro,Naseebullah Kakar,Alida C. Knegt,Éva Oláh,Bruno Dallapiccola,Guntram Borck	26
10	Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations 2012 ·European Journal of Endocrinology ·(unknown),Lin Lin,(unknown),Guntram Borck,Dietrich Klingmüller,B. P. Hauffa,Heiko Krude,Heike Biebermann,John C. Achermann,Birgit Köhler	37
11	Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. 2011 ·PubMed ·Alexander E. Volk,(unknown),(unknown),Peter Herkenrath,(unknown),Guntram Borck,(unknown),(unknown),Peer Eysel,Christian Kubisch,Antje Neugebauer	23
12	Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature 2011 ·The American Journal of Human Genetics ·Rami Abou Jamra,(unknown),Annick Raas‐Rothschild,Sebastian Eck,Elisabeth Graf,Rebecca Buchert,Guntram Borck,Arif B. Ekici,Felix F. Brockschmidt,Markus M. Nöthen,Arnold Münnich,Tim M. Strom,André Reis,Laurence Colleaux	167
13	Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation 2010 ·American Journal of Medical Genetics Part A ·Guntram Borck,Peter Beighton,Christian Wilhelm,Jürgen Kohlhase,Christian Kubisch	41
14	Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family 2009 ·European Journal of Medical Genetics ·(unknown),Guntram Borck,Nathalie Boddaert,(unknown),(unknown),Arnold Münnich,Laurence Colleaux,Malika Chaouch	20
15	Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families 2009 ·Journal of Medical Genetics ·(unknown),(unknown),Guntram Borck,Clarisse Baumann,Geneviève Baujat,Éric Bieth,Patrick Edery,Chantal Farra,(unknown),Delphine Héron,Bruno Leheup,M Le Merrer,Stanislas Lyonnet,Dominique Martin‐Coignard,M Mathieu,Christel Thauvin‐Robinet,Alain Verloès,Laurence Colleaux,Arnold Münnich,Valérie Cormier‐Daire	79
16	Clinical, cellular, and neuropathological consequences ofAP1S2mutations: further delineation of a recognizable X-linked mental retardation syndrome 2008 ·Human Mutation ·Guntram Borck,Anahi Molla‐Herman,Nathalie Boddaert,(unknown),Anne Philippe,Laurence Robel,Isabelle Desguerre,Françis Brunelle,Alexandre Benmerah,Arnold Münnich,Laurence Colleaux	36
17	Molecular karyotyping in human constitutional cytogenetics 2005 ·European Journal of Medical Genetics ·Damien Sanlaville,(unknown),C Turleau,(unknown),Guntram Borck,Laurence Colleaux,Michel Vekemans,Serge Romana	20
18	La CGH microarray : principe et applications en pathologie constitutionnelle 2005 ·Archives de Pédiatrie ·Damien Sanlaville,(unknown),(unknown),C Turleau,Joris Vermeesch,Laurence Colleaux,Guntram Borck,Michel Vekemans,Alain Aurias,Serge Romana	4
19	Approche diagnostique du sujet présentant un retard mental sévère et syndromique 2004 ·Archives de Pédiatrie ·Marlène Rio,Laurence Colleaux,Damien Sanlaville,Guntram Borck,Florence Molinari,Arnold Münnich	1
20	Mutations in the PDS Gene in German Families with Pendred’s Syndrome: V138F Is a Founder Mutation 2003 ·The Journal of Clinical Endocrinology & Metabolism ·Guntram Borck,Christian Roth,Ursula Martiné,(unknown),Joachim Pohlenz	26

About Guntram Borck

Guntram Borck is a scholar working on Sensory Systems, Endocrine and Autonomic Systems and Genetics, having authored 65 papers that have together received 1.7k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (10 papers), Genomic variations and chromosomal abnormalities (9 papers) and Hearing, Cochlea, Tinnitus, Genetics (7 papers). The work is most often cited by research in Genetics (681 citations), Sensory Systems (113 citations) and Endocrine and Autonomic Systems (130 citations). Guntram Borck has collaborated with scholars based in Germany, France and United States. Frequent 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. Their work appears in journals such as The Journal of Experimental Medicine, The Journal of Clinical Endocrinology & Metabolism and The American Journal of Human Genetics.

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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