Marc Abramowicz

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 9

Top Venues

Human genomics

Clinical genetics

Molecular genetics & genomic medicine

Human mutation

Hopitaux Universitaires de Geneve Departement de medecine genetique et de laboratoire

Université Libre de Bruxelles Faculté de Médecine (PHD)

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

Affiliation History

Hopitaux Universitaires de Geneve Departement de medecine genetique et de laboratoire Jan 01 2018

Switzerland

Head of Division :: Diagnostic

University of Geneva Jan 01 2018

Switzerland

Full Professor :: Genetic Medicine and Development

Université Libre de Bruxelles Mar 01 2009

Belgium

Professor :: IRIBHM

Hôpital Erasme Jun 01 2009 - Dec 01 2017

Belgium

Head :: Medical Genetics

Université Libre de Bruxelles

Belgium

Lecturer > Assitant ¨Prof > Associate Professor :: IRIBHM

Hôpital Erasme

Belgium

Clinical Head > Associate :: Medical Genetics

Baylor College of Medicine

United States

Fellow (clinical) :: Human and Molecular Genetics

Fonds De La Recherche Scientifique - FNRS

Belgium

Aspirant (Research Assistant)

Hôpital Erasme

Belgium

Intern :: Internal Medicine

Education History

Université Libre de Bruxelles Faculté de Médecine May 19 1992

Belgium

PHD

Publications

Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. Human genomics 17 (1) (2023)
Siv Fokstuen, Lina Quteineh, Valerie M Schwitzgebel, Bettina Köhler-Ballan, Jean-Louis Blouin, Marc Abramowicz, Thierry Nouspikel
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage. Clinical genetics (2023)
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. Human genomics 17 (1) (2023)
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. Human genomics 17 (1) (2023)
Eva B Hammar, Marc Abramowicz
[Clinical utility of Genome Boards for patients with complex genetic diseases]. Revue medicale suisse 19 (848) (2023)
Judit Kumuthini, Brittany Zick, Angeliki Balasopoulou, Constantina Chalikiopoulou, Collet Dandara, Ghada El-Kamah, Laura Findley, Theodora Katsila, Rongling Li, Ebner Bon Gatus Maceda, Henrietta Monye, Gabriel Rada, Meow-Keong Thong, Thilina Wanigasekera, Hannah Kennel, Veeramani Marimuthu, null null, Marc S Williams, Fahd Al-Mulla, Marc Abramowicz
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review. Human genetics 141 (11) (2022)
Caterina Marconi, Laure Lemmens, Frédéric Masclaux, Francesca Mattioli, Joël Fluss, Philippe Extermann, Purificacion Mendez, Russia Ha-Vinh Leuchter, Elissavet Stathaki, Sacha Laurent, Eva Hammar, Anne Vannier, Konstantinos Varvagiannis, Michel Guipponi, Frédérique Sloan-Bena, Jean-Louis Blouin, Marc Abramowicz, Siv Fokstuen
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis. Clinical genetics 100 (3) (2021)
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François-Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stephanie Moortgat, Geert Mortier, Marie-Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy. Molecular genetics & genomic medicine 9 (9) (2021)
Sarah Duerinckx, Valérie Jacquemin, Séverine Drunat, Yoann Vial, Sandrine Passemard, Camille Perazzolo, Annick Massart, Julie Soblet, Judith Racapé, Laurence Desmyter, Cindy Badoer, Sofia Papadimitriou, Yann-Aël Le Borgne, Anne Lefort, Frédérick Libert, Viviane De Maertelaer, Marianne Rooman, Sabine Costagliola, Alain Verloes, Tom Lenaerts, Isabelle Pirson, Marc Abramowicz
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways. Human mutation 41 (2) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Marc Abramowicz