Orsetta Zuffardi
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View article: Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case Open
We reanalyzed through a cytogenomics approach a case published 20 years ago, describing a girl with developmental delay and epilepsy. Karyotype and FISH analysis showed a de novo 2.3 Mb terminal inverted-duplication at 8q24.3. The interpre…
View article: AUTS2-related syndrome: Insights from a large European cohort
AUTS2-related syndrome: Insights from a large European cohort Open
View article: Characterization of Two Novel <i>PNKP</i> Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations
Characterization of Two Novel <i>PNKP</i> Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations Open
Polynucleotide kinase phosphatase (PNKP), encoded by the PNKP gene, is a DNA processing enzyme involved in double‐strand break and single‐strand break repair pathways, which are essential for genome stability and for the correct developmen…
View article: Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants Open
Optical genome mapping (OGM), which allows analysis of ultra-high molecular weight (UHMW) DNA molecules, represents a response to the restriction created by short-read next-generation-sequencing, even in cases where the causative variant i…
View article: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Open
Background KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and …
View article: Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation Open
We report a 7-year-old boy born with epidermal nevi (EN) arranged according to Blaschko’s lines involving the face and head, right upper limb, chest, and left lower limb, who developed a left paratesticular embryonal rhabdomyosarcoma at 18…
View article: Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 Open
View article: Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage Open
View article: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 Open
View article: Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome Open
Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variabi…
View article: Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes Open
View article: Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion Open
We describe a 5-year-old girl who was diagnosed at birth with 18q de novo homogeneous deletion at G-banding karyotype. Her clinical condition, characterized by hypotonia, psychomotor retardation, short stature, deafness secondary to bilate…
View article: Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females Open
Background: We report on a 20-week-old female fetus with a diaphragmatic hernia and other malformations, all of which appeared after the first-trimester ultrasound. Methods and Results: Whole trio exome sequencing (WES) on cell-free fetal …
View article: The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?
The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances? Open
De novo distal deletions are structural variants considered to be already present in the zygote. However, investigations especially in the prenatal setting have documented that they are often in mosaic with cell lines in which the same del…
View article: Seamless Gene Correction in the Human Cystic Fibrosis Transmembrane Conductance Regulator Locus by Vector Replacement and Vector Insertion Events
Seamless Gene Correction in the Human Cystic Fibrosis Transmembrane Conductance Regulator Locus by Vector Replacement and Vector Insertion Events Open
Background: Gene correction via homology directed repair (HDR) in patient-derived induced pluripotent stem (iPS) cells for regenerative medicine are becoming a more realistic approach to develop personalized and mutation-specific therapeut…
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: Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders Open
Balanced chromosomal rearrangements (BCRs), including inversions, translocations, and insertions, reorganize large sections of the genome and contribute substantial risk for developmental disorders (DDs). However, the rarity and lack of sy…
View article: Combinatorial effects on gene expression at the <i>Lbx1</i> / <i>Fgf8</i> locus resolve Split-Hand/Foot Malformation type 3
Combinatorial effects on gene expression at the <i>Lbx1</i> / <i>Fgf8</i> locus resolve Split-Hand/Foot Malformation type 3 Open
Split-Hand/Foot Malformation type 3 (SHFM3) is a congenital limb malformation associated with tandem duplications at the LBX1 / FGF8 locus. Yet, the disease patho-mechanism remains unsolved. Here we investigated the functional consequences…
View article: Low-Level Complex Mosaic with Multiple Cell Lines Affecting the 18q21.31q21.32 Region in a Patient with De Novo 18q Terminal Deletion
Low-Level Complex Mosaic with Multiple Cell Lines Affecting the 18q21.31q21.32 Region in a Patient with De Novo 18q Terminal Deletion Open
View article: SCN2A and Arrhythmia: A Potential Correlation? A Case Report and Literature Review
SCN2A and Arrhythmia: A Potential Correlation? A Case Report and Literature Review Open
View article: Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease
Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease Open
Dercum's disease (DD), or adiposis dolorosa, is a rare condition of unknown etiology characterized by growth of painful subcutaneous adipose tissue. No specific treatment exists. Pain is often invalidating and resistant to analgesic drugs.…
View article: Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder Open
Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may …
View article: NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain Open
View article: Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum Open
Lissencephaly describes a group of conditions characterized by the absence of normal cerebral convolutions and abnormalities of cortical development. To date, at least 20 genes have been identified as involved in the pathogenesis of this c…
View article: Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples Open
We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malformations and microcephaly identified the homozygous splicing variant NM_005886.3:c.1416+1del in the …
View article: Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature Open
One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White–Sutton syndrome (WHSUS) (MIM #616364), caus…
View article: Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females Open
Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated with the same missense variant p.(Ser37Pro) in the NAA10 gene have been described. After the advent of whole exome sequencing, many NAA10 …
View article: NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain
NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain Open
SUMMARY The heterogeneous complexes comprising the family of Polycomb Repressive Complex 1 (PRC1) are instrumental to establishing facultative heterochromatin that is repressive to transcription. Yet, two PRC1 species, PRC1.3 and PRC1.5, a…
View article: <i>RB1CC1</i> duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism
<i>RB1CC1</i> duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism Open
Background Copy number variants in coding and noncoding genomic regions have been implicated as risk factor for schizophrenia (SCZ). Rare duplications of the RB1CC1 gene were found enriched in SCZ patients. Considering that the effect of s…