Lista de obras -

A dyadic approach to the delineation of diagnostic entities in clinical genomics

artículo científico publicado en 2021

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

artículo científico publicado en 2020

An uncommon 3.4-Mb interstitial deletion at 3q29

artículo científico publicado en 2010

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

artículo científico publicado en 2014

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

artículo científico publicado en 2018

Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers

artículo científico publicado en 2004

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

artículo científico publicado en 2004

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

artículo científico publicado en 2015

Deletion of Exon 1 in <i>AMER1</i> in Osteopathia Striata with Cranial Sclerosis

artículo científico publicado en 2020

FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures

scientific article published on 01 October 2005

Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.

artículo científico publicado en 2013

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients

scientific article published on 01 March 2009

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

artículo científico publicado en 2016

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

artículo científico publicado en 2016

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

artículo científico publicado en 2012

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

artículo científico publicado en 2002

Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification ⬇️

artículo científico publicado el 1 de diciembre de 2003

Partial monosomy 1q43 and partial trisomy 20q13.2: a case report.

artículo científico publicado en 2016

Prenatal and pathologic features of aorto-left ventricular tunnel causing fetal hydrops and intrauterine demise

scientific article published on 03 January 2013

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

artículo científico publicado en 2014

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

artículo científico publicado en 2013

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

artículo científico publicado en 2012

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

artículo científico publicado en 2013

The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature

artículo científico publicado en 2006

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature

artículo científico publicado en 2013

Lista de obras de

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

An uncommon 3.4-Mb interstitial deletion at 3q29

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Deletion of Exon 1 in <i>AMER1</i> in Osteopathia Striata with Cranial Sclerosis

FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures

Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification ⬇️

Partial monosomy 1q43 and partial trisomy 20q13.2: a case report.

Prenatal and pathologic features of aorto-left ventricular tunnel causing fetal hydrops and intrauterine demise

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

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature