Sofia Douzgou
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View article: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Open
View article: Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force
Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force Open
The International Rare Diseases Research Consortium (IRDiRC) Telehealth (TH) Task Force explored the use of TH for improving diagnosis, care, research, and education for rare diseases (RDs). The Task Force reviewed related literature publi…
View article: Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement Open
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is c…
View article: Severe isolated exudative vitreoretinopathy caused by biallelic <i>FZD4</i> variants
Severe isolated exudative vitreoretinopathy caused by biallelic <i>FZD4</i> variants Open
Familial exudative vitreoretinopathy (FEVR) is linked to disruption of the Norrin/Frizzled‐4 signaling pathway, which plays an important role in retinal angiogenesis. Severe or complete knock‐down of proteins in the pathway also causes syn…
View article: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Open
View article: FOXI3 pathogenic variants cause one form of craniofacial microsomia
FOXI3 pathogenic variants cause one form of craniofacial microsomia Open
View article: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy Open
View article: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy Open
View article: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition Open
View article: Biallelic <scp><i>KITLG</i></scp> variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
Biallelic <span><i>KITLG</i></span> variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss Open
Background Pathogenic variants in KITLG , a crucial protein involved in pigmentation and neural crest cell migration, cause non‐syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progre…
View article: Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis
Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis Open
Use of blood RNA sequencing (RNA-seq) as a splicing analysis tool for clinical interpretation of variants of uncertain significance (VUSs) found via whole-genome and exome sequencing can be difficult for genes that have low expression in t…
View article: The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience Open
View article: Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia Open
Background Inherited vitreoretinopathies arise as a consequence of congenital retinal vascularisation abnormalities. They represent a phenotypically and genetically heterogeneous group of disorders that can have a major impact on vision. S…
View article: Biallelic variants in <scp><i>CENPF</i></scp> causing a phenotype distinct from Strømme syndrome
Biallelic variants in <span><i>CENPF</i></span> causing a phenotype distinct from Strømme syndrome Open
Biallelic loss‐of‐function (LoF) variants in CENPF gene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four…
View article: Dataset related to article "Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study"
Dataset related to article "Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study" Open
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View article: Dataset related to article "Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study"
Dataset related to article "Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study" Open
raw data related to article reported at title
View article: Truncating and zinc‐finger variants in <scp><i>GLI2</i></scp> are associated with hypopituitarism
Truncating and zinc‐finger variants in <span><i>GLI2</i></span> are associated with hypopituitarism Open
Variants in transcription factor GLI2 have been associated with hypopituitarism and structural brain abnormalities, occasionally including holoprosencephaly (HPE). Substantial phenotypic variability and nonpenetrance have been described, p…
View article: The blended phenotype of a germline <i>RIT1</i> and a mosaic <i>PIK3CA</i> variant
The blended phenotype of a germline <i>RIT1</i> and a mosaic <i>PIK3CA</i> variant Open
We report a patient with a germline RIT1 and a mosaic PIK3CA variant. The diagnosis of the RASopathy was confirmed by targeted sequencing following the identification of transient cardiomyopathy in a patient with PIK3CA -related overgrowth…
View article: Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood Open
View article: <i>DNMT3A</i>overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults
<i>DNMT3A</i>overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults Open
DNMT3A overgrowth syndrome (DOS, also known as Tatton-Brown-Rahman Syndrome [TBRS]) is an overgrowth syndrome caused by de novo germline mutations in the gene encoding the de novo DNA-methyltransferase 3A (DNMT3A).2][3][4] Affected individ…
View article: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood Open
TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylati…
View article: Expanding the genotypic spectrum of <scp> <i>TXNL4A</i> </scp> variants in <scp>Burn‐McKeown</scp> syndrome
Expanding the genotypic spectrum of <span> <i>TXNL4A</i> </span> variants in <span>Burn‐McKeown</span> syndrome Open
The developmental disorder Burn‐McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial features. BMKS is caused by biallelic variants in the pre‐messenger RNA splicing factor TXNL4A . Most patients have a los…
View article: The Role of the European Society of Human Genetics in Delivering Genomic Education
The Role of the European Society of Human Genetics in Delivering Genomic Education Open
The European Society of Human Genetics (ESHG) was founded in 1967 as a professional organisation for members working in genetics in clinical practice, research and education. The Society seeks the integration of scientific research and its…
View article: Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies Open
We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans.
View article: A standard of care for individuals with <scp> <i>PIK3CA</i> </scp> ‐related disorders: An international expert consensus statement
A standard of care for individuals with <span> <i>PIK3CA</i> </span> ‐related disorders: An international expert consensus statement Open
Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA ‐Related O…
View article: The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience Open
Congenital ear anomalies and hearing impairment are often present in patients with underlying genetic disorders. Germline genomic variants are responsible for at least 50% of congenital and/or childhood-onset sensorineural hearing loss (SN…
View article: Author response for "A standard of care for individuals with PIK3CA ‐related disorders: an international expert consensus statement"
Author response for "A standard of care for individuals with PIK3CA ‐related disorders: an international expert consensus statement" Open
View article: Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy Open
View article: Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders Open
Purpose The increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool,…
View article: Lack of resemblance between Myhre syndrome and other “segmental progeroid” syndromes warrants restraint in applying this classification
Lack of resemblance between Myhre syndrome and other “segmental progeroid” syndromes warrants restraint in applying this classification Open