Laurence Desmyter

Affiliations

ULB Center of Human Genetics, Hôpital Erasme, Brussels, Belgium.

Publications (9)

Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.

American journal of medical genetics. Part A

Avec: Sandra Coppens , Laurence Desmyter , Manuel Koch , Semra Özcelik , Emily O'Heir , Patrick Van Bogaert , Catheline Vilain , Florence Christiaens

Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation.

Clinical genetics

Avec: Marta Lamartine S Monteiro , Isabelle Vandernoot , Laurence Desmyter , Vanessa Wermenbol , Gilles Naeije , Gauthier Remiche

POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program.

European journal of human genetics : EJHG

Avec: Marta Baptista Freitas , Laurence Desmyter , Cindy Badoer , Guillaume Smits , Isabelle Vandernoot , Daphné T Kint de Roodenbeke

Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation.

Neurology. Genetics

Avec: Massimo Pandolfo , Myriam Rai , Gauthier Remiche , Laurence Desmyter , Isabelle Vandernoot

Prevalence and clinical impact of tumor BRCA1 and BRCA2 mutations in patients presenting with localized or metastatic hormone-sensitive prostate cancer.

Prostate cancer and prostatic diseases

Avec: Nieves Martinez Chanza , Brandon Bernard , Philippe Barthelemy , Anna Accarain , Marianne Paesmans , Laurence Desmyter , Daphne T'Kint de Roodenbeke , Thierry Gil , Spyridon Sideris , Thierry Roumeguere , Anis A Hamid , Christopher J Sweeney

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Human mutation

Avec: 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

SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

Neurogenetics

Avec: Gauthier Remiche , Isabelle Vandernoot , Niloufar Sadeghi-Meibodi , Laurence Desmyter

Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs).

Human genetics

Avec: Edoardo Giuili , Robin Grolaux , Catarina Z N M Macedo , Laurence Desmyter , Bruno Pichon , Sebastian Neuens , Catheline Vilain , Catharina Olsen , Sonia Van Dooren , Guillaume Smits , Matthieu Defrance

Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.

Journal of neuromuscular diseases

Avec: Michela Bisciglia , Hazim Kadhim , Sophie Lecomte , Isabelle Vandernoot , Laurence Desmyter , Gauthier Remiche

Réseau de co-auteurs

Isabelle Vandernoot 5 collaborations

Gauthier Remiche 4 collaborations

Catheline Vilain 2 collaborations

Cindy Badoer 2 collaborations

Guillaume Smits 2 collaborations

Sandra Coppens 1 collaboration

Manuel Koch 1 collaboration

Semra Özcelik 1 collaboration

Emily O'Heir 1 collaboration

Patrick Van Bogaert 1 collaboration

Florence Christiaens 1 collaboration

Marta Lamartine S Monteiro 1 collaboration

Vanessa Wermenbol 1 collaboration

Gilles Naeije 1 collaboration

Marta Baptista Freitas 1 collaboration

Daphné T Kint de Roodenbeke 1 collaboration

Massimo Pandolfo 1 collaboration

Myriam Rai 1 collaboration

Nieves Martinez Chanza 1 collaboration

Brandon Bernard 1 collaboration

Philippe Barthelemy 1 collaboration

Anna Accarain 1 collaboration

Marianne Paesmans 1 collaboration

Daphne T'Kint de Roodenbeke 1 collaboration

Thierry Gil 1 collaboration

Spyridon Sideris 1 collaboration

Thierry Roumeguere 1 collaboration

Anis A Hamid 1 collaboration

Christopher J Sweeney 1 collaboration

Sarah Duerinckx 1 collaboration

Valérie Jacquemin 1 collaboration

Séverine Drunat 1 collaboration

Yoann Vial 1 collaboration

Sandrine Passemard 1 collaboration

Camille Perazzolo 1 collaboration

Annick Massart 1 collaboration

Julie Soblet 1 collaboration

Judith Racapé 1 collaboration

Sofia Papadimitriou 1 collaboration

Yann-Aël Le Borgne 1 collaboration

Anne Lefort 1 collaboration

Frédérick Libert 1 collaboration

Viviane De Maertelaer 1 collaboration

Marianne Rooman 1 collaboration

Sabine Costagliola 1 collaboration

Alain Verloes 1 collaboration

Tom Lenaerts 1 collaboration

Isabelle Pirson 1 collaboration

Marc Abramowicz 1 collaboration

Niloufar Sadeghi-Meibodi 1 collaboration

Edoardo Giuili 1 collaboration

Robin Grolaux 1 collaboration

Catarina Z N M Macedo 1 collaboration

Bruno Pichon 1 collaboration

Sebastian Neuens 1 collaboration

Catharina Olsen 1 collaboration

Sonia Van Dooren 1 collaboration

Matthieu Defrance 1 collaboration

Michela Bisciglia 1 collaboration

Hazim Kadhim 1 collaboration

Sophie Lecomte 1 collaboration