Publications by authors named "Raphael Helaers"

22Publications

Analysing ambiguities in trypanosomatids taxonomy by barcoding.

Mem Inst Oswaldo Cruz 2020 19;115:e200504. Epub 2020 Jun 19.

Fundação Oswaldo Cruz-Fiocruz, Instituto Oswaldo Cruz, Laboratório de Estudos Integrados em Protozoologia, Coleção de Protozoários da Fiocruz, Rio de Janeiro, RJ, Brasil.

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http://dx.doi.org/10.1590/0074-02760200504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304411PMC
June 2020

Liquid biopsy for mutational profiling of locoregional recurrent and/or metastatic head and neck squamous cell carcinoma.

Oral Oncol 2020 05 10;104:104631. Epub 2020 Mar 10.

Department of Medical Oncology, Institut Roi Albert II - Cliniques universitaires Saint-Luc, Brussels, Belgium; Institute for Clinical and Experimental Research (MIRO), Université catholique de Louvain, Brussels, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.oraloncology.2020.104631DOI Listing
May 2020

mosaic mutations in patients with capillary malformation-arteriovenous malformation.

J Med Genet 2020 01 12;57(1):48-52. Epub 2019 Jul 12.

Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium; VASCERN VASCA European Reference Center.

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http://dx.doi.org/10.1136/jmedgenet-2019-106024DOI Listing
January 2020

Unmasking familial CPX by WES and identification of novel clinical signs.

Am J Med Genet A 2018 12 21;176(12):2661-2667. Epub 2018 Nov 21.

Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.40630DOI Listing
December 2018

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Hum Mol Genet 2017 11;26(21):4095-4104

Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.

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http://dx.doi.org/10.1093/hmg/ddx297DOI Listing
November 2017

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.

From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.026886DOI Listing
September 2017

and are the most frequently mutated genes in paraganglioma and pheochromocytoma tumors.

Endocr Relat Cancer 2017 08 17;24(8):L57-L61. Epub 2017 May 17.

Pole of Cardiovascular ResearchInstitut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium

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http://dx.doi.org/10.1530/ERC-17-0061DOI Listing
August 2017

Somatic Activating PIK3CA Mutations Cause Venous Malformation.

Am J Hum Genet 2015 Dec;97(6):914-21

Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, 1200 Brussels, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.11.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678782PMC
December 2015

gViz, a novel tool for the visualization of co-expression networks.

BMC Res Notes 2011 Oct 27;4:452. Epub 2011 Oct 27.

Bioinformatics and Biostatistics unit, Molecular Biology Research Unit (MBRU), Namur Center for Complex Systems (NAXYS), University of Namur (FUNDP), 61 Rue de Bruxelles, B-5000 Namur, Belgium.

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http://dx.doi.org/10.1186/1756-0500-4-452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214194PMC
October 2011

Reptilian-transcriptome v1.0, a glimpse in the brain transcriptome of five divergent Sauropsida lineages and the phylogenetic position of turtles.

Evodevo 2011 Sep 26;2(1):19. Epub 2011 Sep 26.

Laboratory of Artificial & Natural Evolution (LANE), Dept, of Genetics & Evolution, University of Geneva, Sciences III, 30, Quai Ernest-Ansermet, 1211 Genève 4, Switzerland.

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http://dx.doi.org/10.1186/2041-9139-2-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192992PMC
September 2011

2x genomes--depth does matter.

Genome Biol 2010 9;11(2):R16. Epub 2010 Feb 9.

Laboratory of Artificial and Natural Evolution (LANE), Department of Zoology and Animal Biology, Sciences III, 30, Quai Ernest-Ansermet, 1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1186/gb-2010-11-2-r16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872876PMC
August 2010

MANTIS: a phylogenetic framework for multi-species genome comparisons.

Bioinformatics 2008 Jan 19;24(2):151-7. Epub 2007 Nov 19.

Laboratory of Evolutionary Genetics, Institute for Molecular Biology & Medicine, Université Libre de Bruxelles, Belgium.

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http://dx.doi.org/10.1093/bioinformatics/btm567DOI Listing
January 2008