A. de Leener

发表

Routine use of gene panel testing in hereditary breast cancer should be performed with caution.

M. Vikkula, M. Berlière, C. van Marcke, 2016, Critical reviews in oncology/hematology.

Reevaluation of ATR signaling in primary resting chronic lymphocytic leukemia cells: evidence for pro-survival or pro-apoptotic function

P. Saussoy, M. Vekemans, F. Bontemps, 2017, Oncotarget.

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families

J. Machiels, R. Helaers, M. Vikkula, 2020, Breast Cancer Research.

Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.

S. Humphries, M. Bourbon, H. Esterbauer, 2021, Atherosclerosis.

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

K. Devriendt, B. Menten, J. Vermeesch, 2021, Genetics in Medicine.

A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy).

W. Desmet, J. Balligand, S. Carlier, 2018, Atherosclerosis.

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.

T. de Ravel, K. Devriendt, B. Menten, 2014, European journal of medical genetics.

Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.

J. van Durme, S. Costagliola, G. Vassart, 2006, The Journal of clinical endocrinology and metabolism.

Variants of the BMP15 gene in a cohort of patients with premature ovarian failure.

S. Costagliola, Y. Englert, G. Vassart, 2010, Human reproduction.

The Core Domain of Chemokines Binds CCR5 Extracellular Domains while Their Amino Terminus Interacts with the Transmembrane Helix Bundle*

Marc Parmentier, R. Doms, M. Parmentier, 2003, The Journal of Biological Chemistry.

Importance of basic residues and quaternary structure in the function of MIP-1 beta: CCR5 binding and cell surface sugar interactions.

M. Parmentier, J. Laurence, C. Blanpain, 2001, Biochemistry.

Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome

L. Pardo, S. Costagliola, G. Vassart, 2008, Human mutation.

A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder

Nelle Lambert, M. Abramowicz, B. Pichon, 2014, Autism research : official journal of the International Society for Autism Research.

Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study

K. Devriendt, B. Menten, J. Vermeesch, 2020, Prenatal diagnosis.

Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation

J. Vermeesch, E. Denayer, A. Salumets, 2021, NPJ genomic medicine.

Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation

J. Vermeesch, E. Denayer, A. Salumets, 2021, npj Genomic Medicine.

AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency.

S. Costagliola, Y. Englert, A. de Leener, 2015, Human reproduction.

Guidelines for the genetic diagnosis of hereditary recurrent fevers

I. Touitou, M. van Gijn, S. Ozen, 2012, Annals of the rheumatic diseases.

Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance

A. de Leener, C. Neugroschl, M. Cassart, 2020, Clinical case reports.

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

K. Devriendt, B. Menten, J. Vermeesch, 2018, Prenatal diagnosis.

Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.

J. Vermeesch, E. Legius, E. Denayer, 2023, Human reproduction.

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

K. Devriendt, J. Vermeesch, J. Gatot, 2021, Obstetrics and gynecology.

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

T. Lenaerts, R. Touraine, M. Abramowicz, 2023, Human Genomics.

Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation

A. de Leener, D. Maiter, B. Brichard, 2023, Frontiers in endocrinology.

W. Desmet, J. Balligand, S. Carlier, 2018, Atherosclerosis.