Lista de obras -

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

Association of CDH11 with non-syndromic ASD.

artículo científico publicado en 2014

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

artículo científico publicado en 2016

Clinical implementation of NIPT - technical and biological challenges

artículo científico

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

artículo científico publicado en 2018

NRAS Mutations in Noonan Syndrome.

artículo científico publicado en 2012

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

artículo científico publicado en 2021

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2015

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Review: Facial endophenotypes in non-syndromic orofacial clefting

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

The ethics of patenting autism genes

article

Time trends in the natural dizygotic twinning rate.

artículo científico publicado en 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

artículo científico publicado en 2018

Validation of a telephone zygosity questionnaire in twins of known zygosity

artículo científico publicado el 1 de mayo de 1998

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

scientific article published on 01 January 2019

Lista de obras de

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

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

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

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

Association of CDH11 with non-syndromic ASD.

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Clinical implementation of NIPT - technical and biological challenges

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

NRAS Mutations in Noonan Syndrome.

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

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

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

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

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

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

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

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

Review: Facial endophenotypes in non-syndromic orofacial clefting

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

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

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

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

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

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

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

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

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

The ethics of patenting autism genes

Time trends in the natural dizygotic twinning rate.

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

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

Validation of a telephone zygosity questionnaire in twins of known zygosity

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

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

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