Raphaël Helaers (Raphael Helaers)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 12

Top Venues

American journal of medical genetics. Part A

Genes

European journal of human genetics : EJHG

Science translational medicine

Christian de Duve Institute of Cellular Pathology

Université de Namur (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Christian de Duve Institute of Cellular Pathology Oct 01 2010

Belgium

Bioinformatician :: Human Molecular Genetics

Université de Namur Jan 01 2009 - Sep 01 2010

Belgium

Bioinformatician :: Molecular Biology

Université Libre de Bruxelles Oct 01 2004 - Dec 01 2008

Belgium

Bioinformatician :: Evolutionary Genetics

Education History

Université de Namur Sep 01 2009 - Feb 01 2010

Belgium

PHD :: Molecular Biology

Université Libre de Bruxelles Sep 01 1998 - Sep 01 2004

Belgium

MSC :: Computer Sciences

Publications

Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin M Y Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American journal of medical genetics. Part A 194 (6) (2024)
Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin M Y Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American journal of medical genetics. Part A 194 (6) (2024)
Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin M Y Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American journal of medical genetics. Part A 194 (6) (2024)
Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin M Y Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American journal of medical genetics. Part A (2024)
Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin M Y Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American journal of medical genetics. Part A (2024)
Matheus de Mello Copelli, Eleonore Pairet, Milena Atique Tacla, Társis Antonio Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. Genes 14 (4) (2023)
Milena Atique Tacla, Matheus de Mello Copelli, Eleonore Pairet, Isabella Lopes Monlleó, Erlane Marques Ribeiro, Elaine Lustosa Mendes, Raphaël Helaers, Társis Antonio Paiva Vieira, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum. European journal of human genetics : EJHG (2023)
Matheus de Mello Copelli, Eleonore Pairet, Milena Atique Tacla, Társis Antonio Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. Genes 14 (4) (2023)
Matheus de Mello Copelli, Eleonore Pairet, Milena Atique Tacla, Társis Antonio Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. Genes 14 (4) (2023)
Matheus de Mello Copelli, Eleonore Pairet, Milena Atique Tacla, Társis Antonio Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. Genes 14 (4) (2023)
Alicia B Byrne, Pascal Brouillard, Drew L Sutton, Jan Kazenwadel, Saba Montazaribarforoushi, Genevieve A Secker, Anna Oszmiana, Milena Babic, Kelly L Betterman, Peter J Brautigan, Melissa White, Sandra G Piltz, Paul Q Thomas, Christopher N Hahn, Matthias Rath, Ute Felbor, G Christoph Korenke, Christopher L Smith, Kathleen H Wood, Sarah E Sheppard, Denise M Adams, Ariana Kariminejad, Raphaël Helaers, Laurence M Boon, Nicole Revencu, Lynette Moore, Christopher P Barnett, Eric Haan, Peer Arts, Miikka Vikkula, Hamish S Scott, Natasha L Harvey
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science translational medicine 14 (634) (2022)
Benedicte Demeer, Nicole Revencu, Raphaël Helaers, Cica Gbaguidi, Stéphanie Dakpe, Geneviève François, Bernard Devauchelle, Bénédicte Bayet, Miikka Vikkula
Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients. Genes 10 (10) (2019)

Raphaël Helaers.css-eqlu8i{font-size:small;padding-left:4px;} (Raphael Helaers)

Publication Activity (10 Years)

Top Topics

Top Venues

Raphaël Helaers (Raphael Helaers)