Naila Cristina Vilaça Lourenço
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View article: Understanding rare variant contributions to autism: lessons from dystrophin-deficient model
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model Open
View article: Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations Open
The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However…
View article: Three generation families: Analysis of de novo variants in autism
Three generation families: Analysis of de novo variants in autism Open
View article: Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport Open
Biallelic pathogenic variants in TBCK cause encephaloneuropathy, infantile hypotonia with psychomotor retardation, and characteristic facies 3 (IHPRF3). The molecular mechanisms underlying its neuronal phenotype are largely unexplored. In …
View article: Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs Open
Since the approval of modifying therapies for Spinal Muscular Atrophy (SMA), several protocols aiming to screen SMN1 homozygous deletion in a neonatal context have been published. However, no work has compared different methodologies along…
View article: A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread
A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread Open
Rapid diagnostics is pivotal to curb SARS-CoV-2 transmission, and saliva has emerged as a practical alternative to naso/oropharyngeal (NOP) specimens. We aimed to develop a direct RT-LAMP (reverse transcription loop-mediated isothermal amp…
View article: A novel RT-LAMP workflow for rapid salivary diagnostics of COVID-19 and effects of age, gender and time from symptom onset
A novel RT-LAMP workflow for rapid salivary diagnostics of COVID-19 and effects of age, gender and time from symptom onset Open
Objectives Rapid diagnostics is pivotal to curb SARS-CoV-2 transmission, and saliva has emerged as a practical alternative to naso/oropharyngeal (NOP) specimens. We aimed to develop a direct RT-LAMP workflow for viral detection in saliva, …
View article: A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case Open
View article: Development of a comprehensive noninvasive prenatal test
Development of a comprehensive noninvasive prenatal test Open
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without …
View article: Waardenburg syndrome: Novel mutations in a large Brazilian sample
Waardenburg syndrome: Novel mutations in a large Brazilian sample Open
View article: Development of a comprehensive noninvasive prenatal test
Development of a comprehensive noninvasive prenatal test Open
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without …
View article: Development of a comprehensive noninvasive prenatal test
Development of a comprehensive noninvasive prenatal test Open
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without …
View article: Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder Open
It has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other genetic changes, contribute to the heterogeneity of ASD phenotypes. Array comparati…
View article: Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina
Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina Open
The results suggest that dystrophin is required for the proper function of luminance and red-green cone opponent mechanisms in the human retina.
View article: Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)
Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) Open
View article: Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?
Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology? Open
Approximately a hundred patients with terminal 10q deletions have been described. They present with a wide range of clinical features always accompanied by delayed development, intellectual disability and craniofacial dysmorphisms. Here, w…