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HK1 haemolytic anaemia in association with a neurological phenotype and co‐existing CEP290 Meckel–Gruber in a Romani family
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Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition
Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition
Abstract Polymerase proofreading-associated polyposis (PPAP) and Lynch syndrome, caused by mutated POLE and mismatch repai...
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB
Corresponding Author Giulia Pascolini Medical Genetics, De...
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome
Abstract Recessive mutations in the genes encoding the four subunits of the tRNA splicing endonuclease complex (TSEN54, TS...
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing
Abstract Rubinstein-Taybi syndrome (RSTS) is characterized by dysmorphic facial features, broad thumbs, and intellectual d...
Pathogenic ‘germline’ variants associated with myeloproliferative disorders in apparently normal individuals: inherited or acquired genetic alterations?
Pathogenic ‘germline’ variants associated with myeloproliferative disorders in apparently normal individuals: inherited or acquired genetic alterations?
Abstract Myeloproliferative syndromes (MPS) are hematologic malignancies due to the expansion of an abnormal hematopoietic...
Challenging the Traditional Approach for Interpreting Genetic Variants: Lessons from Fabry Disease
Challenging the Traditional Approach for Interpreting Genetic Variants: Lessons from Fabry Disease
Abstract Fabry disease (FD) is an X-linked genetic disease due to pathogenic variants in GLA. The phenotype varies dependi...
Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system
Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system
Abstract Purpose Investigate whether disparities and other factors influence referral to genetic counseling and testing fo...
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder
Abstract Transcriptor co-activator factor 20 gene (TCF20) encodes a nuclear chromatin-binding protein involved in regulati...
The Risks of Breast and Ovarian Cancer Associated with the Ashkenazi Jewish Founder Allele BRCA2 6174delT
The Risks of Breast and Ovarian Cancer Associated with the Ashkenazi Jewish Founder Allele BRCA2 6174delT
Abstract Approximately one percent of the Ashkenazi Jewish population carries the BRCA2 6174delT (c.5946del) pathogenic va...
Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis
Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis
Corresponding Author Department of Neurology, Sree Chitra Tirunal Institute for...
Embryonal sarcoma of the liver in a girl with Cockayne syndrome
Embryonal sarcoma of the liver in a girl with Cockayne syndrome
The first reported malignancy associated with Cockayne syndrome.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication‐deletion: genotype‐phenotype correlation for anomalies of the corpus callosum
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication‐deletion: genotype‐phenotype correlation for anomalies of the corpus callosum
Abstract Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a ...
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face
Abstract Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous genetic disease characterized b...
Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study
Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study
Abstract Segmental overgrowth has been widely described in patients with congenital vascular anomalies. However, segmental...
Mitochondrial Developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene
Mitochondrial Developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene
Abstract IMMT gene codes for mitofilin, a mitochondrial inner membrane protein that regulates the morphology of mitochondr...
Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease?
Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease?
UMR-Inserm 1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté...
DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition
DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition
A family with DYRK1B LOF variant offering to expand the phenotype beyond the metabolic syndrome.
Bi‐allelic variants in MDH2: expanding the clinical phenotype
Bi‐allelic variants in MDH2: expanding the clinical phenotype
Abstract Bi-allelic alterations in the MDH2 gene have recently been reported in three unrelated toddlers with early-onset ...
Identifying biomarkers for prenatal diagnosis of neural tube defects based on “omics”
Identifying biomarkers for prenatal diagnosis of neural tube defects based on “omics”
Abstract Neural tube defects (NTDs) are the most severe birth defects and the main cause of newborn death; posing a great ...
Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis
Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis
Abstract Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotyp...
TAB2 variants cause cardiovascular heart disease, connective tissue disorder and developmental delay
TAB2 variants cause cardiovascular heart disease, connective tissue disorder and developmental delay
Abstract Congenital heart defects (CHD) are the most commonly occurring birth defect and can occur in isolation or with ad...
In silico genome‐wide gene‐based association analysis reveals new genes predisposing to coronary artery disease
In silico genome‐wide gene‐based association analysis reveals new genes predisposing to coronary artery disease
Abstract Genome-wide association study (GWAS) have identified more than 300 single nucleotide polymorphisms at 163 indepen...
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome
Abstract The developmental disorder Burn-McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofa...
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions
Abstract The YTH domain family member 3 gene (YTHDF3) encodes a reader of the abundant N6-methyladenosine (m6A) modificati...
Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant
Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant
Corresponding Author unai.hernandezdorronsoro@osakidetza.eus ...
Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities
Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities
Abstract Biallelic changes in the ZNFX1 gene have been recently reported to cause severe familial immunodeficiency. Throug...
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
Abstract Emerging evidence demonstrates the clinical utility of genomic applications in newborn intensive care unit (NICU)...
A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability
A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability
Abstract Primary ovarian insufficiency (POI), affecting 1 % of women under 40 years is a public health problem. Gen...
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century
Abstract Background Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by recessive variants in ...
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