André Reis
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View article: A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes
A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes Open
View article: Expanding the Genetic and Phenotypic Spectrum of <scp><i>POLRMT</i></scp>‐Related Mitochondrial Disease
Expanding the Genetic and Phenotypic Spectrum of <span><i>POLRMT</i></span>‐Related Mitochondrial Disease Open
Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity. Genomic testing is increasingly used as the first step in the diagnostic pathway for mitochondrial diseases. We used next…
View article: <i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
<i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current Open
The Na + leak channel NALCN regulates the resting membrane potential and consequently cell excitability of several cell types, including neurons. Studies of animal models demonstrated that NALCN is involved in fundamental physiological fun…
View article: Limited association between <scp>HRR</scp> gene alterations and <scp>HRD</scp> in molecular tumor board cancer samples: Who should be tested for <scp>HRD</scp>?
Limited association between <span>HRR</span> gene alterations and <span>HRD</span> in molecular tumor board cancer samples: Who should be tested for <span>HRD</span>? Open
Alterations in Homologous Recombination Repair (HRR) Pathway genes have been found to be associated with HR‐Deficiency (HRD), which is an approved biomarker for PARP Inhibitor (PARPi) treatment. The aim of a Molecular Tumor Board (MTB) is …
View article: A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation
A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation Open
Heterozygous mutations of TCF4 in humans cause Pitt–Hopkins syndrome, a neurodevelopmental disease associated with intellectual disability and brain malformations. Although most studies focus on the role of TCF4 in neural stem cells and ne…
View article: GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets Open
View article: Produção e aplicação de conhecimento na promoção da segurança do paciente em hospitais
Produção e aplicação de conhecimento na promoção da segurança do paciente em hospitais Open
Objetivo: descrever as práticas de gestão utilizadas para produção e aplicação do conhecimento visando promover a segurança do paciente em organizações hospitalares durante a pandemia de COVID-19. Métodos: Estudo qualitativo, com abordagem…
View article: Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability Open
View article: Biodegradable Polymeric Membranes Via Additive Manufacturing for Application in Water Treatment
Biodegradable Polymeric Membranes Via Additive Manufacturing for Application in Water Treatment Open
3D printing has found applications across various sectors, including water treatment, where the incorporation of novel materials enhances sustainability and imparts specific functional properties. This study focused on the production of po…
View article: Further delineation of the SCAF4-associated neurodevelopmental disorder
Further delineation of the SCAF4-associated neurodevelopmental disorder Open
View article: Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability Open
These findings confirm that GTF3C3 variants result in an autosomal recessive form of syndromic intellectual disability.
View article: ANALISAR A PREVALÊNCIA E OS FATORES QUE MOTIVAM A HESITAÇÃO VACINAL DAS VACINAS BIVALENTE E QUADRIVALENTE CONTRA O PAPILOMA VÍRUS HUMANO (HPV), NA REGIÃO DE SAÚDE NORTE DO DISTRITO FEDERAL
ANALISAR A PREVALÊNCIA E OS FATORES QUE MOTIVAM A HESITAÇÃO VACINAL DAS VACINAS BIVALENTE E QUADRIVALENTE CONTRA O PAPILOMA VÍRUS HUMANO (HPV), NA REGIÃO DE SAÚDE NORTE DO DISTRITO FEDERAL Open
A hesitação vacinal é o atraso ou recusa de vacinas, mesmo com a disponibilidade dos serviços. Esse fenômeno tem resultado no retorno de doenças antes raras ou erradicadas, além de gerar custos elevados com o tratamento dessas doenças. O s…
View article: Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A
Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A Open
Pathogenic heterozygous variants in CACNA1A are associated with familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6, and more recently, neurodevelopmental disorders. We describe a severe, early-onset phen…
View article: Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals Open
View article: Long-term outcomes of patients with IgA nephropathy in the German CKD cohort
Long-term outcomes of patients with IgA nephropathy in the German CKD cohort Open
Background The importance of albuminuria as opposed to proteinuria in predicting kidney outcomes in primary immunoglobulin A nephropathy (IgAN) is not well established. Methods From 2010 to 2012, 421 patients with biopsy-proven IgAN have b…
View article: The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation Open
View article: Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome Open
View article: Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline
Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline Open
BACKGROUND: Autosomal recessive renal tubular dysgenesis is a rare, usually fatal inherited disorder of the renin-angiotensis system (RAS). Herein, we report an adolescent individual experiencing an unknown chronic kidney disease and aim t…
View article: MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature Open
View article: Pathogenic PHIP Variants are Variably Associated With CAKUT
Pathogenic PHIP Variants are Variably Associated With CAKUT Open
Pathogenic PHIP gene variants should be considered as causative in patients with syndromal CAKUT. Conversely, patients with CHUJANS should be clinically evaluated for urorenogenital manifestations. Because neurodevelopmental disorde…
View article: Long-term outcomes of adults with FSGS in the German Chronic Kidney Disease cohort
Long-term outcomes of adults with FSGS in the German Chronic Kidney Disease cohort Open
Background Focal segmental glomerulosclerosis (FSGS) can lead to kidney failure in adults. This study examines the progression of FSGS in the German Chronic Kidney Disease (GCKD) cohort. Methods The GCKD study (N = 5217), a prospective coh…
View article: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals Open
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 ( H3-3A / H3F3A and H3-3B / H3F3B ) [1–4]. This syndrome is characterized…
View article: Interactive exploration of adverse events and multimorbidity in CKD
Interactive exploration of adverse events and multimorbidity in CKD Open
Background Persons with chronic kidney disease (CKD) are at increased risk of adverse events, early mortality and multimorbidity. A detailed overview of adverse event types and rates from a large CKD cohort under regular nephrological care…
View article: Severe manifestation of <scp>Rauch‐Azzarello</scp> syndrome associated with biallelic deletion of <scp> <i>CTNND2</i> </scp>
Severe manifestation of <span>Rauch‐Azzarello</span> syndrome associated with biallelic deletion of <span> <i>CTNND2</i> </span> Open
CTNND2 encodes δ‐catenin, a component of an adherens junction complex, and plays an important role in neuronal structure and function. To date, only heterozygous loss‐of‐function CTNND2 variants have been associated with mild neurodevelopm…
View article: The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation Open
ARID1B is the most frequently mutated gene in Coffin-Siris syndrome (CSS). To date, the vast majority of causative variants reported in ARID1B are truncating, leading to nonsense-mediated mRNA decay. In the absence of experimental data, on…
View article: Apolipoprotein A-IV concentrations and cancer in a large cohort of chronic kidney disease patients: results from the GCKD study
Apolipoprotein A-IV concentrations and cancer in a large cohort of chronic kidney disease patients: results from the GCKD study Open
View article: Ein Geburtstagsgruß für Ingo Hansmann zum 80. Geburtstag
Ein Geburtstagsgruß für Ingo Hansmann zum 80. Geburtstag Open
View article: De novo variants predicting haploinsufficiency for <scp><i>DIP2C</i></scp> are associated with expressive speech delay
De novo variants predicting haploinsufficiency for <span><i>DIP2C</i></span> are associated with expressive speech delay Open
The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding domain, Acyl‐CoA synthetase domain and AMP‐binding sites. DIP2 reg…
View article: Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder Open
Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example i…
View article: Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center
Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center Open
Molecular Tumor Boards (MTBs) converge state-of-the-art next-generation sequencing (NGS) methods with the expertise of an interdisciplinary team consisting of clinicians, pathologists, human geneticists, and molecular biologists to provide…