Jan M. Cobben

3.2k citations

42 papers · 1.1k indexed · h-index 20

Co-authors: Fleur S. van Dijk Gerard Pals Rick R. van Rijn Peter G. J. Nikkels Grazia M.S. Mancini Leo P. ten Kate Roelof‐Jan Oostra Marjo S. van der Knaap
Topics: Connective tissue disorders research (13 papers)Neurogenetic and Muscular Disorders Research (8 papers)Ubiquitin and proteasome pathways (5 papers)
Cited by: Developmental Biology Genetics Immunology and Allergy
Journals: Kidney International Human Molecular Genetics Journal of Hepatology
Partner nations: Netherlands United Kingdom Belgium

In The Last Decade

Jan M. Cobben

42 papers receiving 1.1k citations

Peers

Countries citing papers authored by Jan M. Cobben

Since Specialization

Citations

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

Fields of papers citing papers by Jan M. Cobben

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Jan M. Cobben. 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 Jan M. Cobben. The network helps show where Jan M. Cobben may publish in the future.

Co-authorship network of co-authors of Jan M. Cobben

This figure shows the co-authorship network connecting the top 25 collaborators of Jan M. Cobben. A scholar is included among the top collaborators of Jan M. Cobben 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 Jan M. Cobben. Jan M. Cobben 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	CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant 2024 ·American Journal of Medical Genetics Part A ·(unknown),(unknown),Jemima E. Mellerio,Muriel Holder‐Espinasse,Jan M. Cobben	1
2	An exemplary model of genetic counselling for highly specialised services 2023 ·Journal of Community Genetics ·Juliette Harris,(unknown),Duncan Baker,(unknown),Jessica Bowen,(unknown),(unknown),Claire Green,(unknown),(unknown),(unknown),(unknown),Clare L. Stacey,Jan M. Cobben,Neeti Ghali,Diana Johnson,Glenda Sobey,Fleur S. van Dijk	2
3	Sedaghatian spondylometaphyseal dysplasia in two siblings 2022 ·European Journal of Medical Genetics ·(unknown),(unknown),Richard Caswell,Sian Ellard,Wajanat Jan,Alistair Calder,Jan M. Cobben,Ujwal Kariholu,Harry G. Leitch	2
4	Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis 2017 ·European Journal of Medical Genetics ·Fleur S. van Dijk,Grazia M.S. Mancini,Alessandra Maugeri,Jan M. Cobben	9
5	The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature 2015 ·Genetics in Medicine ·(unknown),Dicky Halley,Liesbeth S. Smit,Maarten H. Lequin,Jan M. Cobben,I.F.M. de Coo,(unknown),Suzanne C.E.H. Sallevelt,G.H. Woldringh,Marjo S. van der Knaap,Linda S. de Vries,Grazia M.S. Mancini	182
6	Pectus excavatum and carinatum 2014 ·European Journal of Medical Genetics ·Jan M. Cobben,Roelof‐Jan Oostra,Fleur S. van Dijk	58
7	Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures 2013 ·Molecular Genetics and Metabolism ·(unknown),N. G. G. M. Abeling,Charles B.L.M. Majoie,Annet M. Bosch,Johannes H.T.M. Koelman,Jan M. Cobben,Marinus Durán,Bwee Tien Poll‐The	20
8	A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3) 2013 ·Clinical Dysmorphology ·Charlotte W. Ockeloen,Jan M. Cobben,Carlo Marcelis,David A. Koolen	1
9	A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient 2011 ·European Journal of Medical Genetics ·(unknown),Fleur S. van Dijk,Jan M. Cobben,Rick R. van Rijn,Erik A. Sistermans,Sultana MH Faradz,(unknown),Gerard Pals	23
10	Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features 2010 ·European Journal of Medical Genetics ·Fleur S van Dijk,Hinke F. van Thuijl,(unknown),Rick R. van Rijn,Jan M. Cobben	5
11	Complete COL1A1 allele deletions in osteogenesis imperfecta 2010 ·Genetics in Medicine ·Fleur S. van Dijk,(unknown),Ariana Kariminejad,Carlo Marcelis,Astrid S. Plomp,Pauline Terhal,Hanne Meijers‐Heijboer,Marjan M. Weiss,Rick R. van Rijn,Jan M. Cobben,Gerard Pals	33
12	The clinical spectrum of complete FBN1 allele deletions 2010 ·European Journal of Human Genetics ·Yvonne Hilhorst‐Hofstee,Ben C.J. Hamel,Joanne Verheij,M Rijlaarsdam,Grazia M.S. Mancini,Jan M. Cobben,(unknown),(unknown),Kerstin Hansson,Janneke Timmermans,Henriëtte A. Moll,Martijn H. Breuning,Gerard Pals	57
13	Survival in SMA type I: A prospective analysis of 34 consecutive cases 2008 ·Neuromuscular Disorders ·Jan M. Cobben,Henny H. Lemmink,I. Snoeck,(unknown),(unknown),Marjolein Visser	46
14	Genetic and clinical mosaicism in a patient with neurofibromatosis type 1 2003 ·Human Genetics ·Ina Vandenbroucke,Remco van Doorn,Tom Callens,Jan M. Cobben,Theo M. Starink,Ludwine Messiaen	30
15	First Trimester Diagnosis of Split Hand/Foot by Transvaginal Ultrasound 2001 ·Fetal Diagnosis and Therapy ·Monique C. Haak,Jan M. Cobben,J. M. G. van Vugt	4
16	Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV 1994 ·Human Molecular Genetics ·Allan J. Richards,P Narcisi,(unknown),Jan M. Cobben,F M Pope	7
17	Linkage mapping of the spinal muscular atrophy gene 1994 ·Human Genetics ·Arthur H.M. Burghes,Susan E. Ingraham,(unknown),(unknown),(unknown),Nitin Nadkarni,Christine J. DiDonato,John D. Carpten,Orest Hurko,Julaine Florence,Richard T. Moxley,Jan M. Cobben,Jerry R. Mendell	36
18	The popliteal pterygium syndrome: an analysis of two families 1994 ·Journal of Cranio-Maxillofacial Surgery ·Paul H.M. Spauwen,Jan M. Cobben,J.W.M. Gardeniers	6
19	Linkage and apparent heterogeneity in proximal spinal muscular atrophies 1993 ·Neuromuscular Disorders ·Jan M. Cobben,Hans Scheffer,Marjolein Visser,Jan Osinga,Rune R. Frants,Gerrit van der Steege,Cisca Wijmenga,Leo P. ten Kate,Gert‐Jan B. van Ommen,Charles H.C.M. Buys	8
20	Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease 1990 ·Kidney International ·Jan M. Cobben,M.H. Breuning,Coen Schoots,Leo P. ten Kate,Klaus Zerres	67

About Jan M. Cobben

Jan M. Cobben is a scholar working on Developmental Biology, Genetics and Genetics, having authored 42 papers that have together received 1.1k indexed citations. Recurring topics across this work include Connective tissue disorders research (13 papers), Neurogenetic and Muscular Disorders Research (8 papers) and Ubiquitin and proteasome pathways (5 papers). The work is most often cited by research in Developmental Biology (49 citations), Genetics (613 citations) and Immunology and Allergy (97 citations). Jan M. Cobben has collaborated with scholars based in Netherlands, United Kingdom and Belgium. Frequent co-authors include Fleur S. van Dijk, Gerard Pals, Rick R. van Rijn, Peter G. J. Nikkels, Grazia M.S. Mancini, Leo P. ten Kate, Roelof‐Jan Oostra, Marjo S. van der Knaap, I.F.M. de Coo and Maarten H. Lequin. Their work appears in journals such as Kidney International, Human Molecular Genetics and Journal of Hepatology.

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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