Lista de obras -

A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading in-frame deletion

artículo científico publicado en 2021

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

artículo científico publicado en 2016

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations

article

Clinical and molecular spectrum of CHOPS syndrome

artículo científico publicado en 2019

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

artículo científico publicado en 2018

De novo SOX11 mutations cause Coffin-Siris syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

artículo científico publicado en 2021

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency

artículo científico publicado en 2020

Detection of copy number variations in epilepsy using exome data.

artículo científico publicado en 2017

Efficient detection of copy-number variations using exome data: batch- and sex-based analyses

artículo científico publicado en 2020

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

artículo científico publicado en 2017

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

artículo científico publicado en 2003

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

artículo científico publicado en 2005

GRIN2D variants in three cases of developmental and epileptic encephalopathy

article

Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel

artículo científico publicado en 2018

Legg-Calvé-Perthes disease in a patient with Bardet-Biedl syndrome: A case report of a novel <i>MKKS/BBS6</i> mutation

artículo científico publicado en 2020

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

artículo científico publicado en 2010

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

artículo científico publicado en 2006

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

scientific article published on 01 July 2005

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

artículo científico publicado en 2009

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

artículo científico publicado en 2013

New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome

scientific article published on 12 September 2018

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

artículo científico publicado en 2008

Novel SUZ12 mutations in Weaver-like syndrome

artículo científico publicado en 2018

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

artículo científico publicado en 2017

PRUNE1-related disorder: Expanding the clinical spectrum

scientific article published on 26 June 2018

Phenotype-genotype correlation in two patients with 12q proximal deletion

artículo científico publicado en 2004

Phenotypic and molecular insights into PQBP1 -related intellectual disability

artículo científico publicado en 2018

Response to Lefebvre et al.

artículo científico publicado en 2017

SMOC1 is essential for ocular and limb development in humans and mice

artículo científico publicado en 2011

SOFT syndrome in a patient from Chile

artículo científico publicado en 2018

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

scientific article published on 24 December 2019

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

artículo científico publicado en 2018

Lista de obras de

A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading in-frame deletion

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

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

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

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations

Clinical and molecular spectrum of CHOPS syndrome

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

De novo SOX11 mutations cause Coffin-Siris syndrome

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

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency

Detection of copy number variations in epilepsy using exome data.

Efficient detection of copy-number variations using exome data: batch- and sex-based analyses

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

GRIN2D variants in three cases of developmental and epileptic encephalopathy

Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel

Legg-Calvé-Perthes disease in a patient with Bardet-Biedl syndrome: A case report of a novel <i>MKKS/BBS6</i> mutation

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

Novel SUZ12 mutations in Weaver-like syndrome

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

PRUNE1-related disorder: Expanding the clinical spectrum

Phenotype-genotype correlation in two patients with 12q proximal deletion

Phenotypic and molecular insights into PQBP1 -related intellectual disability

Response to Lefebvre et al.

SMOC1 is essential for ocular and limb development in humans and mice

SOFT syndrome in a patient from Chile

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.