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Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder

Human mutation, 2018-10, Vol.39 (10), p.1372-1383

2018

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Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice

American journal of medical genetics. Part A, 2023-10, Vol.191 (10), p.2508-2517

2023

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The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.824-828

2017

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DNA methylation of the promoter region at the CREB1 binding site is a mechanism for the epigenetic regulation of brain-specific PKMζ

Biochimica et biophysica acta. Gene regulatory mechanisms, 2023-03, Vol.1866 (1), p.194909-194909, Article 194909

2023

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Posttranscriptional Interaction Between miR‐450a‐5p and miR‐28‐5p and STAT1 mRNA Triggers Osteoblastic Differentiation of Human Mesenchymal Stem Cells

Journal of cellular biochemistry, 2017-11, Vol.118 (11), p.4045-4062

2017

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FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1334-1337

2022

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Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals

American journal of medical genetics. Part C, Seminars in medical genetics, 2021-09, Vol.187 (3), p.357-363

2021

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Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-12, Vol.184 (4), p.896-911

2020

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Meta‐Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort

Autism research, 2020-02, Vol.13 (2), p.199-206

2020

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Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.59-65

2016

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Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms

Clinical genetics, 2021-11, Vol.100 (5), p.615-623

2021

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Validating GWAS Variants from Microglial Genes Implicated in Alzheimer’s Disease

Journal of molecular neuroscience, 2017-06, Vol.62 (2), p.215-221

2017

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Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

American journal of medical genetics. Part C, Seminars in medical genetics, 2013-11, Vol.163C (4), p.306-317

2013

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Stem cell proliferation under low intensity laser irradiation: A preliminary study

Lasers in surgery and medicine, 2008-08, Vol.40 (6), p.433-438

2008

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Further evidence of the importance of RIT1 in Noonan syndrome

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2952-2957

2014

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Syndromes of the first and second pharyngeal arches: A review

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1853-1859

2009

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Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features

American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1039-1046

2015

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Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Human mutation, 2017-07, Vol.38 (7), p.751-763

2017

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Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.938-945

2017

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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

American journal of human genetics, 2019-05, Vol.104 (5), p.925-935

2019

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Polymorphisms at Regions 1p22.1 (rs560426) and 8q24 (rs1530300) Are Risk Markers for Nonsyndromic Cleft Lip and/or Palate in the Brazilian Population

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1177-1180

2013

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Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects

Scientific reports, 2017-05, Vol.7 (1), p.2441-8, Article 2441

2017

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Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene-environment interaction

Nature communications, 2023-05, Vol.14 (1), p.2868-2868, Article 2868

2023

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Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndrome?

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1838-1840

2010

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Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder

Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype

DNA methylation of the promoter region at the CREB1 binding site is a mechanism for the epigenetic regulation of brain-specific PKMζ

Posttranscriptional Interaction Between miR‐450a‐5p and miR‐28‐5p and STAT1 mRNA Triggers Osteoblastic Differentiation of Human Mesenchymal Stem Cells

Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes

FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?

Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals

Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil

Meta‐Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms

Validating GWAS Variants from Microglial Genes Implicated in Alzheimer’s Disease

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

Stem cell proliferation under low intensity laser irradiation: A preliminary study

Further evidence of the importance of RIT1 in Noonan syndrome

Syndromes of the first and second pharyngeal arches: A review

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Polymorphisms at Regions 1p22.1 (rs560426) and 8q24 (rs1530300) Are Risk Markers for Nonsyndromic Cleft Lip and/or Palate in the Brazilian Population

Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects

Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene-environment interaction

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndrome?

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