Lista de obras -

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia

artículo científico publicado en 2018

A novel de novo frameshift variant in SETD1B causes epilepsy

scientific article published on 20 May 2019

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21

scientific article published on 09 January 2019

A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

artículo científico publicado en 2017

A novel mutation in SLC1A3 causes episodic ataxia.

artículo científico publicado en 2017

A population-specific uncommon variant in GRIN3A associated with schizophrenia.

artículo científico publicado en 2012

Association of ANK3 with bipolar disorder confirmed in East Asia

artículo científico publicado en 2011

Biallelic COLGALT1 variants are associated with cerebral small vessel disease

artículo científico publicado en 2018

Comparison of mitochondrial DNA variants detection using short- and long-read sequencing

artículo científico publicado en 2019

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

artículo científico publicado en 2019

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

scientific article published on 23 July 2019

Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales

artículo científico publicado en 2018

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

artículo científico publicado en 2020

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

artículo científico publicado en 2018

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

artículo científico publicado en 2020

Depression-like episodes in mice harboring mtDNA deletions in paraventricular thalamus

artículo científico publicado en 2015

Detection of copy number variations in epilepsy using exome data.

artículo científico publicado en 2017

Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

artículo científico publicado en 2016

Estimating contribution of rare non-coding variants to neuropsychiatric disorders

article

Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.

artículo científico publicado en 2016

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

scientific article published on 27 September 2018

GRIN2D variants in three cases of developmental and epileptic encephalopathy

article

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities

scientific article published on 12 December 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

artículo científico publicado en 2019

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

artículo científico publicado en 2019

Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci.

artículo científico publicado en 2017

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.

artículo científico publicado en 2019

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1

artículo científico publicado en 2019

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

artículo científico publicado en 2017

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

artículo científico publicado en 2018

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

artículo científico publicado en 2018

Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene

artículo científico publicado en 2014

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration

scientific article published on 01 July 2019

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

artículo científico publicado en 2020

Novel SUZ12 mutations in Weaver-like syndrome

artículo científico publicado en 2018

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

artículo científico publicado en 2018

PRUNE1-related disorder: Expanding the clinical spectrum

scientific article published on 26 June 2018

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma

scientific article published on 13 June 2019

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant

artículo científico publicado en 2019

RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype

scientific article published on 08 March 2019

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

artículo científico publicado en 2018

Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice

artículo científico publicado en 2019

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

scientific article published on 27 October 2019

SOFT syndrome in a patient from Chile

artículo científico publicado en 2018

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder

artículo científico publicado en 2021

Whole exome sequencing of fetal structural anomalies detected by ultrasonography

artículo científico publicado en 2020

Lista de obras de

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia

A novel de novo frameshift variant in SETD1B causes epilepsy

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21

A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

A novel mutation in SLC1A3 causes episodic ataxia.

A population-specific uncommon variant in GRIN3A associated with schizophrenia.

Association of ANK3 with bipolar disorder confirmed in East Asia

Biallelic COLGALT1 variants are associated with cerebral small vessel disease

Comparison of mitochondrial DNA variants detection using short- and long-read sequencing

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

Depression-like episodes in mice harboring mtDNA deletions in paraventricular thalamus

Detection of copy number variations in epilepsy using exome data.

Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

Estimating contribution of rare non-coding variants to neuropsychiatric disorders

Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

GRIN2D variants in three cases of developmental and epileptic encephalopathy

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci.

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

Novel SUZ12 mutations in Weaver-like syndrome

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

PRUNE1-related disorder: Expanding the clinical spectrum

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant

RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

SOFT syndrome in a patient from Chile

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder

Whole exome sequencing of fetal structural anomalies detected by ultrasonography