Lista de obras -

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

artículo científico publicado en 2012

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome

artículo científico publicado en 2008

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

artículo científico publicado en 2014

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

artículo científico publicado en 2009

Autosomal insertional translocation mimicking an X-linked mode of inheritance

artículo científico publicado en 2012

Barth syndrome in a female patient

artículo científico publicado en 2012

C5orf42 is the major gene responsible for OFD syndrome type VI.

artículo científico publicado en 2013

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

artículo científico publicado en 2010

Copy number variation goes clinical

artículo científico publicado en 2009

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

artículo científico publicado en 2015

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

artículo científico publicado en 2016

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

artículo científico publicado en 2015

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

artículo científico publicado en 2014

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

artículo científico publicado en 2017

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

artículo científico publicado en 2014

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

scientific article published on 12 July 2019

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

artículo científico publicado en 2014

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

artículo científico publicado en 2010

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

artículo científico publicado en 2010

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

artículo científico publicado en 2013

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

artículo científico publicado en 2015

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

artículo científico publicado en 2015

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

artículo científico publicado en 2015

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

artículo científico publicado en 2009

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

artículo científico publicado en 2011

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

artículo científico publicado en 2015

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

artículo científico publicado en 2011

Whole-genome multiple displacement amplification from single cells

artículo científico publicado en 2006

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

artículo científico publicado en 2012

Lista de obras de

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

Autosomal insertional translocation mimicking an X-linked mode of inheritance

Barth syndrome in a female patient

C5orf42 is the major gene responsible for OFD syndrome type VI.

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

Copy number variation goes clinical

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Whole-genome multiple displacement amplification from single cells

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas