A. Destrėe

发表

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

J. Rosenfeld, T. de Ravel, J. Vermeesch, 2009, Journal of Medical Genetics.

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

F. Rivier, A. Destrée, C. Philippe, 2012, European Journal of Human Genetics.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case

G. Mortier, A. Destrée, C. Skrypnyk, 2003, Journal of medical genetics.

Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).

P. Vannuffel, A. Destrée, I. Maystadt, 2010, Molecular genetics and metabolism.

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

T. de Ravel, I. Casteels, G. Arno, 2020, Scientific Reports.

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

B. V. van Bon, M. Fichera, B. D. de Vries, 2009, European journal of medical genetics.

Adult phenotype of KCNQ2 encephalopathy

P. Striano, L. Vercueil, R. Møller, 2021, Journal of Medical Genetics.

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

A. Destrée, D. Lederer, I. Maystadt, 2016, European journal of medical genetics.

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

A. Munnich, J. Casanova, J. Tolmie, 2011, Nature Genetics.

Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

Seneca L. Bessling, A. McCallion, M. Caulfield, 2012, Nature Genetics.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Mutation of perinatal myosin heavy chain associated with a Carney complex variant.

Mark Veugelers, Cynthia C Morton, S. Weremowicz, 2004, The New England journal of medicine.

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

K. Devriendt, G. Mortier, H. Van Esch, 2021, Molecular genetics & genomic medicine.

Episignature analysis of moderate effects and mosaics

R. Jech, B. Haslinger, J. Winkelmann, 2023, European Journal of Human Genetics.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

A. Destrée, R. De Rycke, N. Goemans, 2019, Genetics in Medicine.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

B. V. van Bon, A. Hoischen, B. D. de Vries, 2017, PLoS genetics.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Michelle S. Miller, G. Mortier, M. Simpson, 2014, European Journal of Human Genetics.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

A. Destrée, D. Lederer, N. Deconinck, 2022, European journal of medical genetics.

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

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

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

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

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.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.

B. Grisart, A. Destrée, I. Maystadt, 2011, European journal of medical genetics.

RSK2 mutation co‐segregates with X‐linked intellectual disability and attenuated Coffin–Lowry phenotype in a three‐generation family

A. Hanauer, A. Aeby, D. Lederer, 2014, Clinical genetics.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I

A. Toutain, P. Jouk, L. Faivre, 2010, Clinical genetics.

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

B. Grisart, A. Destrée, P. Deltenre, 2008, European Journal of Human Genetics.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.