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List of works by Hilde Peeters

A complex Xp11.22 deletion in a patient with syndromic autism: Exploration ofFAM120Cas a positional candidate gene for autism

article

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

scientific article published on 08 August 2018

A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.

scientific article published on January 2008

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

scientific article published in September 2016

Association of CDH11 with non-syndromic ASD.

scientific article published on 19 May 2014

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

scientific article published on 17 June 2016

Clinical implementation of NIPT - technical and biological challenges

scientific article published on 13 April 2015

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

scientific article published on 22 January 2018

Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings

scientific article published in January 2013

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

scientific article

Executive functioning and local-global visual processing: candidate endophenotypes for autism spectrum disorder?

scientific article published on 2 November 2016

Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

scientific article published on 6 May 2015

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

scientific article published on 7 December 2016

Fetal hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: a case report.

scientific article published in January 2012

Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.

scientific article

Genetic testing and counseling in the case of an autism diagnosis: A caregivers perspective.

scientific article published on 17 August 2016

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

scientific article

Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.

scientific article published on 24 June 2014

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities

scientific article published on 24 February 2015

Increased Ca2+ signaling in NRXN1α +/- neurons derived from ASD induced pluripotent stem cells

scientific article published on 30 December 2019

Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature

scientific article published on 25 February 2020

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

scientific article published on 14 June 2019

Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.

scientific article published in January 2012

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

scientific article published on 30 April 2013

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

scientific article

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

scientific article published on 01 November 2018

NRAS Mutations in Noonan Syndrome.

scientific article published on 3 May 2012

NRXN1α<sup>+/-</sup> is associated with increased excitability in ASD iPSC-derived neurons

scientific article published on 15 September 2021

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.

scientific article published on 11 January 2011

Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios

scientific article published on 28 April 2018

Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives

article

Platelet studies in autism spectrum disorder patients and first-degree relatives

scientific article

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

scientific article published on 31 January 2018

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

scientific article published on 18 September 2014

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

Review: Facial endophenotypes in non-syndromic orofacial clefting

scientific article

Shooting a moving target. Researching autism genes: An interview study with professionals.

scientific article published on 22 December 2015

Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation

scientific article published on 25 October 2018

Spatially Dense 3D Facial Heritability and Modules of Co-heritability in a Father-Offspring Design

scientific article published on 19 November 2018

Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting

scientific article published on 08 September 2017

The East Flanders Prospective Twin Survey (EFPTS): 55 Years Later

scientific article published on 09 September 2019

The East Flanders Prospective Twin Survey (EFPTS): an actual perception.

scientific article published on 29 October 2012

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.

scientific article published on 20 September 2015

The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing.

scientific article

The ethics of complexity. Genetics and autism, a literature review

scientific article published on 12 February 2016

The ethics of patenting autism genes

article

Time trends in the natural dizygotic twinning rate.

scientific article published on 13 June 2011

Trisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T's. Look at the hands

scientific article published on January 2011

Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo

scientific article published on 04 July 2018

Validation of a telephone zygosity questionnaire in twins of known zygosity

scientific article published on May 1, 1998

Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.

scientific article published on 17 May 2017

ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.

scientific article published on 7 February 2018

[Adolescent with a schizophreniform disorder and recurrent 16p11.2 duplication]

scientific article published on 01 January 2019

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