Lista de obras -

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

artículo científico publicado en 2008

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

artículo científico publicado en 2009

Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT)

scientific journal article

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

artículo científico publicado en 2011

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

artículo científico publicado en 2007

Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men

artículo científico publicado en 2010

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

artículo científico publicado en 2013

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

artículo científico publicado en 2011

Cytogenetic risk stratification of 417 patients with chronic myelomonocytic leukemia from a single institution

artículo científico publicado en 2014

DNA from dead cancer cells induces TLR9-mediated invasion and inflammation in living cancer cells

artículo científico publicado en 2013

De Novo Thrombotic Microangiopathy Immediately After Kidney Transplant in Patients Without Apparent Risk Factors.

artículo científico publicado en 2015

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Engineered DNA ligases with improved activities in vitro

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

artículo científico publicado en 2014

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

artículo científico publicado en 2009

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

artículo científico publicado en 2012

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile

artículo científico publicado en 2013

Histone deacetylase inhibitors activate NF-kappaB in human leukemia cells through an ATM/NEMO-related pathway

artículo científico publicado en 2010

Homozygous inv(11)(q21q23) and MLL gene rearrangement in two patients with myeloid neoplasms

artículo científico publicado en 2014

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

artículo científico publicado en 2014

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

artículo científico publicado en 2008

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

artículo científico publicado en 2008

Molecular findings among patients referred for clinical whole-exome sequencing

artículo científico publicado en 2014

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

artículo científico publicado en 2007

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

artículo científico publicado en 2011

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

artículo científico publicado en 2010

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

artículo científico publicado en 2010

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

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

artículo científico publicado en 2013

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

artículo científico publicado en 2010

The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.

artículo científico publicado en 2017

The phenotype of recurrent 10q22q23 deletions and duplications

artículo científico publicado en 2011

The use of mosquito repellents at three sites in India with declining malaria transmission: surveys in the community and clinic

artículo científico publicado en 2016

Transcriptome analysis for molecular landscaping of genes controlling diterpene andrographolide biosynthesis in Andrographis paniculata (Burm . f.) Nees

scientific article published on 07 November 2020

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

What is the value of reactive case detection in malaria control? A case-study in India and a systematic review

artículo científico publicado en 2016

Lista de obras de

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT)

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Cytogenetic risk stratification of 417 patients with chronic myelomonocytic leukemia from a single institution

DNA from dead cancer cells induces TLR9-mediated invasion and inflammation in living cancer cells

De Novo Thrombotic Microangiopathy Immediately After Kidney Transplant in Patients Without Apparent Risk Factors.

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

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

Engineered DNA ligases with improved activities in vitro

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

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile

Histone deacetylase inhibitors activate NF-kappaB in human leukemia cells through an ATM/NEMO-related pathway

Homozygous inv(11)(q21q23) and MLL gene rearrangement in two patients with myeloid neoplasms

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Molecular findings among patients referred for clinical whole-exome sequencing

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

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

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

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

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

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

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

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

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.

The phenotype of recurrent 10q22q23 deletions and duplications

The use of mosquito repellents at three sites in India with declining malaria transmission: surveys in the community and clinic

Transcriptome analysis for molecular landscaping of genes controlling diterpene andrographolide biosynthesis in Andrographis paniculata (Burm . f.) Nees

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

What is the value of reactive case detection in malaria control? A case-study in India and a systematic review