Philippe Khau Van Kien

3.7k citations

40 papers · 1.5k indexed · h-index 17

Cancer Research top 5%
- Protease and Inhibitor Mechanisms 3
Genetics top 5%
- Connective tissue disorders research 16
- Genomic variations and chromosomal abnormalities 5
- Genomics and Rare Diseases 3
Endocrinology, Diabetes and Metabolism top 5%
Pulmonary and Respiratory Medicine top 5%
- Aortic Disease and Treatment Approaches 7
Surgery top 10%
Epidemiology
- Congenital Heart Disease Studies 4
Pediatrics, Perinatology and Child Health
- Prenatal Screening and Diagnostics 4
Molecular Biology
- Muscle Physiology and Disorders 3

Co-authors: Xavier Jeunemaı̂tre Jean‐Eric Wolf Alain Lalande Flavie Mathieu François Brunotte Anne‐Paule Gimenez‐Roqueplo Pierre‐François Plouin Valérie Nau
Cited by: Cancer Research Genetics Endocrinology, Diabetes and Metabolism
Journals: Circulation (1 paper)Nature Genetics (1 paper)The EMBO Journal (1 paper)
Partner nations: France United States United Kingdom

In The Last Decade

Philippe Khau Van Kien

39 papers receiving 1.4k citations

Peers

Countries citing papers authored by Philippe Khau Van Kien

Since Specialization

Citations

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

Fields of papers citing papers by Philippe Khau Van Kien

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Philippe Khau Van Kien. 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 Philippe Khau Van Kien. The network helps show where Philippe Khau Van Kien may publish in the future.

Co-authorship network

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

All Works

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20 of 20 papers shown

#	Work
1	Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study Orphanet Journal of Rare Diseases ·Thomas Édouard,Marie‐Christine Picot,Fernanda Bajanca,Hélèna Huguet,Aitor Guitarte,Maud Langeois,Bertrand Chesneau,Philippe Khau Van Kien,Eric Garrigue,Yves Dulac,Pascal Amédro	2024	2
2	A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus Molecular Genetics & Genomic Medicine ·Bertrand Chesneau,Aurélie Plancke,Guillaume Rolland,Bertrand Marcheix,Yves Dulac,Thomas Édouard,Julie Plaisancié,Marion Aubert‐Mucca,Sophie Julia,Maud Langeois,Thierry Lavabre‐Bertrand,Philippe Khau Van Kien	2021	5
3	Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders European Journal of Human Genetics ·Bertrand Chesneau,Aurélie Plancke,Guillaume Rolland,Nicolas Chassaing,Christine Coubes,Elise Brischoux‐Boucher,Thomas Édouard,Yves Dulac,Marion Aubert‐Mucca,Thierry Lavabre‐Bertrand,Julie Plaisancié,Philippe Khau Van Kien	2021	11
4	A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis Fetal Diagnosis and Therapy ·Claire Guissart,Frédéric Tran Mau‐Them,Vanessa Debant,Victoria Viart,Charlotte Dubucs,Victoria L. Pritchard,Cécile Rouzier,Amandine Boureau‐Wirth,Emmanuelle Haquet,Jacques Puechberty,Éric Bieth,Philippe Khau Van Kien,Marie‐Pierre Bréchard,Caroline Raynal,Anne Girardet,Mireille Claustres,M. Kœnig,Marie‐Claire Vincent	2018	9
5	Apport de l’analyse chromosomique par puce à ADN dans un centre de diagnostic prénatal pluridisciplinaire Gynécologie Obstétrique Fertilité & Sénologie ·C. Bartholmot,E. Mousty,F. Grosjean,YURI DINIZ MOTTA PETROV,Philippe Khau Van Kien,Jean Chiésa,V. Letouzey	2017	3
6	Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation Journal of Cystic Fibrosis ·Claire Guissart,Charlotte Dubucs,Caroline Raynal,Anne Girardet,Frédéric Tran Mau‐Them,Vanessa Debant,Cécile Rouzier,Amandine Boureau‐Wirth,Emmanuelle Haquet,Jacques Puechberty,Éric Bieth,D. Dupin Deguine,Philippe Khau Van Kien,Marie‐Pierre Bréchard,Victoria L. Pritchard,M. Kœnig,Mireille Claustres,M.-C. Vincent	2016	12
7	Lack ofTEKGene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria PubMed ·Nabila Brahami,Mourad Aribi,Badr-Eddine Sari,Philippe Khau Van Kien,Isabelle Touitou,Marie‐Paule Lefranc,Mouna Barat‐Houari	2013	4
8	Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers–Danlos syndrome Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin ·Kim-Thanh Ong,Henri Plauchu,S Peyrol,Élisabeth Roux,Elisabeth Errazuriz,Philippe Khau Van Kien,Brigitte Arbeille,Alain Gaulier,G. Georgescou,Patrick Collignon,Dominique P. Germain,M.-N. Gaveau,Jérôme Perdu,Stéphane Laurent,Patrick Bruneval,Pierre Boutouyrie	2012	8
9	Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene European Journal of Human Genetics ·Aliya Ishmukhametova,Philippe Khau Van Kien,Déborah Méchin,Delphine Thorel,Marie‐Claire Vincent,François Rivier,Christine Coubes,Véronique Humbertclaude,Mireille Claustres,Sylvie Tuffery‐Giraud	2012	24
10	Extreme oral manifestations in a Marfan-type syndrome International Journal of Oral and Maxillofacial Surgery ·Roman Hossein Khonsari,Pierre Corre,Z. Boukerma-Vernex,J. Schmidt,Karine Renaudin,C Frayssé,M. Gayet-Delacroix,Philippe Khau Van Kien,A. David	2010	12
11	De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome European Journal of Medical Genetics ·Laurence Faivre,Philippe Khau Van Kien,Patrick Callier,Nathalie Ruiz-Pallares,Corinne Baudoin,Aurélie Plancke,Jean‐Eric Wolf,Christel Thauvin‐Robinet,E. Dana Durand,Delphine Minot,Véronique Dulieu,Jean-Damien Métaizeau,Bruno Leheup,Fanny Coron,Samuel Bidot,Frédéric Huet,Guillaume Jondeau,Cathérine Boileau,Mireille Claustres,Francine Mugneret	2010	16
12	Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy American Journal of Medical Genetics Part A ·Bertrand Isidor,S. Baron,Philippe Khau Van Kien,Anne‐Marie Bertrand,Albert David,Martine Le Merrer	2010	8
13	Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains Human Mutation ·Philippe Khau Van Kien,David Baux,Nathalie Pallarès-Ruiz,Corinne Baudoin,AurÃ©lie Plancke,Nicolas Chassaing,Patrick Collignon,ValÃ©rie Drouin-Garraud,Alain Hovnanian,Dominique Martin‐Coignard,GwenaÃ lle Collod-BÃ©roud,Christophe BÃ©roud,Anne‐Françoise Roux,Mireille Claustres	2009	11
14	New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination? European Journal of Human Genetics ·Mouna Barat‐Houari,Karine Nguyen,Rafaëlle Bernard,C. Mata Fernández,Catherine Vovan,Corinne Bareil,Philippe Khau Van Kien,Delphine Thorel,Sylvie Tuffery‐Giraud,Francis Vasseur,Shahram Attarian,Jean Pouget,Anne Girardet,Nicolas Lévy,M. Claustres	2009	11
15	Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines Pathologie Biologie ·Véronique Humbertclaude,Sylvie Tuffery‐Giraud,Corinne Bareil,C. Thèze,Damien Paulet,François-Olivier Desmet,Dalil Hamroun,David Baux,Anne Girardet,Gwenaëlle Collod‐Béroud,Philippe Khau Van Kien,Anne‐Françoise Roux,M. des Georges,Christophe Béroud,Mireille Claustres	2009	0
16	G.P.9.10 Clinical development of the French UMD–DMD database Neuromuscular Disorders ·Véronique Humbertclaude,Sylvie Tuffery‐Giraud,Rabah Ben Yaou,Dalil Hamroun,Philippe Khau Van Kien,France Leturcq,J. Chelly,Mathilde Bonnet des Claustres,Christophe Béroud	2007	1
17	Characterisation of a large complex intragenic re‐arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency British Journal of Haematology ·Muriel Giansily‐Blaizot,Delphine Thorel,Philippe Khau Van Kien,C Béhar,Marie‐Catherine Romey,Francine Mugneret,Jean‐François Schved,Mireille Claustres	2007	8
18	Syndrome d’Ehlers-Danlos vasculaire La Presse Médicale ·Jérôme Perdu,Pierre Boutouyrie,Khadija Lahlou‐Laforêt,Philippe Khau Van Kien,Nicolas Denarié,Élie Mousseaux,Marc Sapoval,Pierre Julia,F. Zinzindohoué,Philippe Touraine,Yves Dumez,D. Trystram,Catherine Vignal,Anne‐Paule Gimenez‐Roqueplo,Xavier Jeunemaı̂tre,Jean‐Noël Fiessinger	2006	19
19	Prenatal overgrowth and mosaic trisomy 15q25‐qter including the IGF1 receptor gene Prenatal Diagnosis ·Laurence Faivre,Thierry Rousseau,Nicole Laurent,Philippe Gosset,Damien Sanlaville,Christel Thauvin‐Robinet,Véronica Cusin,Stéphanie Lionnais,Patrick Callier,Philippe Khau Van Kien,Frédéric Huet,C Turleau,Paul Sagot,Francine Mugneret	2004	14
20	Automatic Determination of Aortic Compliance With Cine-Magnetic Resonance Imaging Investigative Radiology ·Alain Lalande,Philippe Khau Van Kien,Nicolas Salve,D. Ben Salem,L. Legrand,Paul M. Walker,Jean‐Eric Wolf,François Brunotte	2002	20

About Philippe Khau Van Kien

Philippe Khau Van Kien is a scholar working on Genetics, Pulmonary and Respiratory Medicine and Immunology and Allergy, having authored 40 papers that have together received 1.5k indexed citations. Recurring topics across this work include Connective tissue disorders research (16 papers), Aortic Disease and Treatment Approaches (7 papers), Genomic variations and chromosomal abnormalities (5 papers), Congenital Heart Disease Studies (4 papers), Prenatal Screening and Diagnostics (4 papers), Genomics and Rare Diseases (3 papers), Muscle Physiology and Disorders (3 papers) and Protease and Inhibitor Mechanisms (3 papers). The work is most often cited by research in Cancer Research (366 citations), Genetics (509 citations) and Endocrinology, Diabetes and Metabolism (294 citations). Philippe Khau Van Kien has collaborated with scholars based in France, United States and United Kingdom. Frequent co-authors include Xavier Jeunemaı̂tre, Jean‐Eric Wolf, Alain Lalande, Flavie Mathieu, François Brunotte, Anne‐Paule Gimenez‐Roqueplo, Pierre‐François Plouin, Valérie Nau, Claudine Rieubland and Pierre Corvol. Their work appears in journals such as Circulation, Nature Genetics and The EMBO Journal.

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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