Adriana Rebelo
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View article: An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser Open
View article: Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability
Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability Open
Historically defined as non–functional copies of coding genes, pseudogenes are an abundant yet underexplored element in the human genome, despite growing evidence linking them to human diseases. From a genome wide screen, we identified 411…
View article: <scp>FIC Domain Protein Adenylyltransferase (FICD)</scp>‐Related Complex Hereditary Spastic Paraplegia with Diabetes Mellitus
<span>FIC Domain Protein Adenylyltransferase (FICD)</span>‐Related Complex Hereditary Spastic Paraplegia with Diabetes Mellitus Open
View article: Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD Open
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the diseas…
View article: Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features Open
Background Neurogenetic disorders caused by pathogenic variants in four genes encoding non-erythrocytic spectrins ( SPTAN1, SPTBN1, SPTBN2, SPTBN4) range from peripheral and central nervous system involvement to complex syndromic presentat…
View article: Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3 Open
The Wellcome Trust, the MRC.
View article: Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia
Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia Open
Hereditary Spastic Paraplegia (HSP) is a group of rare inherited disorders characterized by progressive weakness and spasticity of the legs. Recent newly discovered biallelic variants in the gene FICD were found in patients with a highly s…
View article: MFF budding from mitochondria regulates melanosome size and maturation
MFF budding from mitochondria regulates melanosome size and maturation Open
Melanosomes are lysosome-related organelles that produce and accumulate melanin. Melanosome maturation is regulated by their association with mitochondria and requires the export and recycling of unneeded cargo via tubular carriers and fis…
View article: A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus Open
View article: A recurrent missense variant in <i>ITPR3</i> causes demyelinating Charcot-Marie-Tooth with variable severity
A recurrent missense variant in <i>ITPR3</i> causes demyelinating Charcot-Marie-Tooth with variable severity Open
Charcot-Marie-Tooth (CMT) disease is a neuromuscular disorder affecting the peripheral nervous system. The diagnostic yield in demyelinating CMT (CMT1) is typically ∼80%–95%, of which at least 60% is due to the PMP22 gene duplication. The …
View article: A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A Open
Background Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot–Marie–Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable va…
View article: Recurrent <i>ATP1A1</i> variant Gly903Arg causes developmental delay, intellectual disability, and autism
Recurrent <i>ATP1A1</i> variant Gly903Arg causes developmental delay, intellectual disability, and autism Open
ATP1A1 encodes a sodium‐potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children…
View article: Clinical and Neuroradiological Spectrum of Biallelic Variants in NOTCH3
Clinical and Neuroradiological Spectrum of Biallelic Variants in NOTCH3 Open
View article: Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights
Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights Open
Biallelic SORD mutations cause one of the most frequent forms of recessive hereditary neuropathy, estimated to affect approximately 10,000 patients in North America and Europe alone. Pathogenic SORD loss-of-function changes in the encoded …
View article: Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts Open
Background and purpose Mutations in the alpha‐B‐crystallin ( CRYAB ) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy and cataracts. For the first time, peripheral neuropathy is reported here as a nove…
View article: Deep structured learning for variant prioritization in Mendelian diseases
Deep structured learning for variant prioritization in Mendelian diseases Open
Effective computer-aided or automated variant evaluations for monogenic diseases will expedite clinical diagnostic and research efforts of known and novel disease-causing genes. Here we introduce MAVERICK: a Mendelian Approach to Variant E…
View article: GR.2 A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
GR.2 A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia Open
Background: The late-onset cerebellar ataxias (LOCAs) have until recently resisted molecular diagnosis. Contributing to this diagnostic gap is that non-coding structural variations, such as repeat expansions, are not fully accessible to st…
View article: A common flanking variant is associated with enhanced meiotic stability of the<i>FGF14</i>-SCA27B locus
A common flanking variant is associated with enhanced meiotic stability of the<i>FGF14</i>-SCA27B locus Open
The factors driving initiation of pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14 -SCA27B (GAA)•(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and identified a 5’-fla…
View article: Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs Open
COQ7 encodes a hydroxylase responsible for the penultimate step of coenzyme Q10 (CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple cellular functions, including mitochondrial oxidative phosphorylation, lipid metabolism, …
View article: Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency
Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency Open
Sorbitol dehydrogenase (SORD) deficiency has been identified as the most frequent autosomal recessive form of hereditary neuropathy. Loss of SORD causes high sorbitol levels in tissues due to the inability to convert sorbitol to fructose i…
View article: The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease Open
View article: Novel variant in <i>CADM3</i> causes Charcot–Marie–Tooth disease
Novel variant in <i>CADM3</i> causes Charcot–Marie–Tooth disease Open
CADM3 has been recently reported causing a rare axonal Charcot–Marie–Tooth disease in three independent Caucasian families carrying a recurrent change. We describe the first alternative causative mutation in CADM3 in a family from black Af…
View article: Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia Open
A dominantly inherited deep intronic GAA repeat expansion in FGF14 was found to be associated with LOCA. (Funded by Fondation Groupe Monaco and others.).
View article: Expanding <i>PRDX3</i> disease: broad range of onset age and infratentorial MRI signal changes
Expanding <i>PRDX3</i> disease: broad range of onset age and infratentorial MRI signal changes Open
Variants in PRDX3 have recently been described to cause autosomal-recessive cerebellar ataxia.1 However, confirmation by an independent second report is still lacking and information on phenotypic variety (in particular, distribution of ag…
View article: Deep structured learning realizes variant prioritization for Mendelian diseases
Deep structured learning realizes variant prioritization for Mendelian diseases Open
Effective computer-aided or automated variant evaluations for monogenic diseases will expedite clinical diagnostic and research efforts of known and novel disease-causing genes. Here we introduce MAVERICK: a Mendelian Approach to Variant E…
View article: De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental Syndrome
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental Syndrome Open
ATP1A1 encodes the α1 subunit of the sodium-potassium ATPase, an electrogenic cation pump highly expressed in the nervous system. Pathogenic variants in other subunits of the same ATPase, encoded by ATP1A2 or ATP1A3, a…
View article: Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
The publisher apologizes for publishing an incorrect version of the article. This has been corrected.
View article: Erratum to: A <i>CADM3</i> variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
Erratum to: A <i>CADM3</i> variant causes Charcot-Marie-Tooth disease with marked upper limb involvement Open
View article: Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort Open
View article: Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia Open
Peroxiredoxin 3 (PRDX3) belongs to a superfamily of peroxidases that function as protective antioxidant enzymes. Among the six isoforms (PRDX1–PRDX6), PRDX3 is the only protein exclusively localized to the mitochondria, which are the main …