Lista de obras -

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

artículo científico publicado en 2011

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

artículo científico publicado en 2009

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

artículo científico publicado en 2013

Detection of clinically relevant exonic copy-number changes by array CGH.

artículo científico publicado en 2010

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

artículo científico publicado en 2013

Identification of novel candidate disease genes from de novo exonic copy number variants.

artículo científico publicado en 2017

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

artículo científico publicado en 2010

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

artículo científico publicado en 2013

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

artículo científico publicado en 2011

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

artículo científico publicado en 2014

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

scientific article published on 01 December 2007

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

artículo científico publicado en 2012

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

artículo científico publicado en 2009

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

artículo científico publicado en 2008

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

artículo científico publicado en 2009

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

artículo científico publicado en 2012

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

artículo científico publicado en 2014

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

artículo científico publicado en 2007

Lista de obras de

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Detection of clinically relevant exonic copy-number changes by array CGH.

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

Identification of novel candidate disease genes from de novo exonic copy number variants.

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region