Lista de obras -

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities

artículo científico publicado en 2015

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

artículo científico publicado en 2015

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

artículo científico publicado en 2018

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

artículo científico publicado en 2018

Baraitser-Winter Cerebrofrontofacial Syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

artículo científico publicado en 2019

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

artículo científico publicado en 2017

Clinical phenotypes of MAGEL2 mutations and deletions

artículo científico publicado en 2014

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

artículo científico publicado en 2013

Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families

scientific article published on 07 October 2020

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

artículo científico publicado en 2016

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

scientific article published on 03 January 2019

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

scientific article published on 20 June 2019

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

artículo científico publicado en 2012

Diagnostic value of partial exome sequencing in developmental disorders

artículo científico publicado en 2018

Distinct phenotype of PHF6 deletions in females.

artículo científico publicado en 2013

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

artículo científico

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

scientific article published on 26 October 2019

Further delineation of Malan syndrome

artículo científico publicado en 2018

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

artículo científico publicado en 2017

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

artículo científico publicado en 2015

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

artículo científico publicado en 2016

International consensus recommendations on the diagnostic work-up for malformations of cortical development

artículo científico publicado en 2020

Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function

scientific article published on 23 May 2014

Lissencephaly: Expanded imaging and clinical classification.

artículo científico publicado en 2017

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

artículo científico publicado en 2012

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

artículo científico publicado en 2015

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

artículo científico publicado en 2015

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

scientific article published on 03 October 2019

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

artículo científico publicado en 2016

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

artículo científico publicado en 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

artículo científico publicado en 2016

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

scientific journal article

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

artículo científico publicado en 2016

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

artículo científico publicado en 2017

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

artículo científico publicado en 2018

Novel truncating PPM1D mutation in a patient with intellectual disability

artículo científico publicado en 2018

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

artículo científico publicado en 2017

Parental mosaicism in epilepsies due to alleged de novo variants

scientific article published on 11 May 2019

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

artículo científico publicado en 2012

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

artículo científico

Pierpont syndrome: report of a new patient.

artículo científico publicado en 2017

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

artículo científico publicado en 2016

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

artículo científico publicado en 2016

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

artículo científico publicado en 2014

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

artículo científico publicado en 2014

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability

artículo científico publicado en 2017

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness

artículo científico publicado en 2014

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

artículo científico publicado en 2015

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

artículo científico publicado en 2020

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

scientific article published on 30 April 2018

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

artículo científico publicado en 2016

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

artículo científico publicado en 2017

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

scientific article published in Nature Communications

Lista de obras de

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Baraitser-Winter Cerebrofrontofacial Syndrome

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

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

Clinical phenotypes of MAGEL2 mutations and deletions

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Diagnostic value of partial exome sequencing in developmental disorders

Distinct phenotype of PHF6 deletions in females.

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

Further delineation of Malan syndrome

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function

Lissencephaly: Expanded imaging and clinical classification.

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

Novel truncating PPM1D mutation in a patient with intellectual disability

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Parental mosaicism in epilepsies due to alleged de novo variants

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Pierpont syndrome: report of a new patient.

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia