Sheila Unger
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View article: Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro Open
Neurodevelopmental disorders (NDD) with brain malformations have recently been associated with de novo variants in the DPYSL5 gene, which encodes a member of the dihydropyrimidinase-like proteins family. Here, we aimed to understand its ro…
View article: De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder Open
View article: Recurrent Increased Nuchal Translucency Led to the Identification of Novel <i>NUP107</i> Variants
Recurrent Increased Nuchal Translucency Led to the Identification of Novel <i>NUP107</i> Variants Open
Five percent of fetuses presents increased fetal nuchal translucency. It is a well‐known marker for aneuploidy (T21, Turner syndrome) and a variety of monogenic syndromes such as Noonan syndrome and certain skeletal dysplasias, as well as …
View article: BRCA genetic testing and counseling in breast cancer: how do we meet our patients’ needs?
BRCA genetic testing and counseling in breast cancer: how do we meet our patients’ needs? Open
BRCA1 and BRCA2 are tumor suppressor genes that have been linked to inherited susceptibility of breast cancer. Germline BRCA1/2 pathogenic or likely pathogenic variants (gBRCAm) are clinically relevant for treatment selection in breast can…
View article: Cardiac hereditary diseases: genetic insights from a single center 15-year experience
Cardiac hereditary diseases: genetic insights from a single center 15-year experience Open
Funding Acknowledgements Type of funding sources: None. Background In the last decades, the implementation of high-throughput next-generation (NGS) technologies has profoundly changed the landscape of human genome sequencing. However, the …
View article: Cardiogenetics and Artificial Intelligence: the Mutscore Algorithm
Cardiogenetics and Artificial Intelligence: the Mutscore Algorithm Open
Funding Acknowledgements Type of funding sources: None. Backgroud The analysis of whole genome, exomes or deputed genes in the context of multigene panels, while being extensively available in routine practice, has raised new challenges in…
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: Nosology of genetic skeletal disorders: 2023 revision
Nosology of genetic skeletal disorders: 2023 revision Open
The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technolo…
View article: Genetische Beratung: Konzepte Missverstndnisse Perspektiven
Genetische Beratung: Konzepte Missverstndnisse Perspektiven Open
Genetische Beratung
\nDie Medizinische Genetik hat sich von einem Randgebiet zu einer zentralen klinischen Disziplin in der Medizin entwickelt. Der enorme Wissenszuwachs der letzten Jahre zu Phänotypen und Genotypen, zu Ätiologie und Verla…
View article: Conseil gntique: concepts malentendus et perspectives
Conseil gntique: concepts malentendus et perspectives Open
Conseil génétique:
View article: Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity Open
View article: Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features Open
Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the …
View article: Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer
Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer Open
This paper presents the Swiss guideline for genetic counselling and testing of individuals with an increased probability for carrying mutations in high risk cancer predisposition genes, particularly BRCA1 and BRCA2. It aims to help provide…
View article: Author response for "Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene"
Author response for "Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene" Open
View article: Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator Open
Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks1, but the exact nature and extent of their involvement in human Mendelian disease is largely unknown. Here we show that genetic ablation of a…
View article: Physicians communicating with women at genetic risk of breast and ovarian cancer: Are we in the middle of the ford between contradictory messages and unshared decision making?
Physicians communicating with women at genetic risk of breast and ovarian cancer: Are we in the middle of the ford between contradictory messages and unshared decision making? Open
BRCA1/2 genetic testing offers tremendous opportunities for prevention, diagnosis and treatment of breast and ovarian cancer. Women acquire valuable information that can help them to make informed decisions about their health. However, kno…
View article: Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life
Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life Open
BACKGROUND This report describes a new strategy for the care of patients with osteogenesis imperfecta, based on an interdisciplinary team working. Thereby, we aim at fulfilling three main goals: offering thorough coordinated management for…
View article: Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis
Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis Open
View article: The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases Open
Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called “Ehlers–Danlos syndrome, spondylodysplastic form type 3” (SCD-EDS, OMIM 612350) i…
View article: Combined Lung and Liver Transplantation for Short Telomere Syndrome
Combined Lung and Liver Transplantation for Short Telomere Syndrome Open
Telomeres are DNA-protein structures located at the chromosome ends and terminating with an essential single-stranded 3'-overhang. 1 Their role is to maintain genomic integrity by protecting chromosomes from degradation and ille…
View article: Dissemination of Genetic Information in Swiss Families with Lynch Syndrome: A Qualitative Exploratory Study
Dissemination of Genetic Information in Swiss Families with Lynch Syndrome: A Qualitative Exploratory Study Open
In Switzerland, out of respect for privacy and in accordance with federal laws regarding genetic testing, information sharing about hereditary cancer predisposition syndromes is initiated solely by the proband and never from the medical cl…
View article: CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age
CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age Open
Congenital disorders of glycosylation (CDGs) comprise a large number of inherited metabolic defects that affect the biosynthesis and attachment of glycans. CDGs manifest as a broad spectrum of disease, most often including neurodevelopment…
View article: Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6 Open
Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as “linkeropathies”. The two phenotypes related to mutations in genes B4GALT7 and B3GALT6…
View article: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene Open
View article: Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium
Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium Open
Background Malignant brain tumors (BT) are among the cancers most frequently associated with constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations in …
View article: Hypomorphic mutations of TRIP11 cause odontochondrodysplasia
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia Open
Odontochondrodysplasia (ODCD) is an unresolved genetic disorder of skeletal and dental development. Here, we show that ODCD is caused by hypomorphic TRIP11 mutations, and we identify ODCD as the nonlethal counterpart to achondrogenesis 1A …
View article: EPID-09. CMMRD (CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY) ASSOCIATED-BRAIN TUMORS: REPORT FROM THE EUROPEAN C4CMMRD CONSORTIUM
EPID-09. CMMRD (CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY) ASSOCIATED-BRAIN TUMORS: REPORT FROM THE EUROPEAN C4CMMRD CONSORTIUM Open
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome (OMIM#276300) due to biallelic germline mutations in MMR genes, leading to a broad spectrum of childhood malignancies includin…
View article: A Novel Talin-to-RhoA Switch Mechanism Upon Ligand Binding of the Collagen VI Receptor CMG2
A Novel Talin-to-RhoA Switch Mechanism Upon Ligand Binding of the Collagen VI Receptor CMG2 Open
View article: Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures” Open
View article: CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome Open