A. Bale
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View article: P662: Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome
P662: Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome Open
Pathogenic variants in WDFY3 have been established as a cause of neurodevelopmental disorders. Although overwhelming evidence suggests that de novo variants in WDFY3 are significantly enriched among autistic patients, our current understan…
View article: P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program
P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program Open
Rapid genome sequencing (rGS) has been used increasingly in clinical care in recent years due to the high diagnostic yield and shorter turnaround time. Since 2019 the DNA Diagnostic laboratory at Yale School of Medicine has been offering r…
View article: P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8
P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8 Open
Trisomy 8 mosaicism syndrome (T8MS), also known as Warkany syndrome 2, is a rare aneuploidy condition affecting 1/25,000–50,000 live births with male to female ratio of 5:1. Affected individuals have a highly variable phenotype varying fro…
View article: The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors Open
This survey attempted to assess the challenges that LGG PDs have been facing in offering and integrating clinical molecular genetics and clinical cytogenetics fellowship training. Common challenges between programs were noted, and a set of…
View article: A De Novo Deleterious <i>PHEX</i> Variant Without Clinical Features of X-Linked Hypophosphatemia
A De Novo Deleterious <i>PHEX</i> Variant Without Clinical Features of X-Linked Hypophosphatemia Open
X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, is due to inactivation of PHEX, resulting in increased circulating fibroblast growth factor 23. Consequent renal phosphate loss leads to hypophosphatemia, rickets…
View article: Advancing diagnosis and management of liver disease in adults through exome sequencing
Advancing diagnosis and management of liver disease in adults through exome sequencing Open
S.V. is supported by the NIH/NIDDK (K08 DK113109 and R01 DK131033-01A1) and the Doris Duke Charitable Foundation Grant #2019081. This work was supported in part by NIH-funded Yale Liver Center, P30 DK34989.
View article: <i>FKBP14</i>kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report
<i>FKBP14</i>kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report Open
Hereditary connective tissue disorders have overlapping phenotypes, particularly in regard to musculoskeletal features. This contributes to the challenge of phenotype-based clinical diagnoses. However, some hereditary connective tissue dis…
View article: Supplementary Figure 2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Supplementary Figure 2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer Open
Supplementary Figure 2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
View article: Supplementary Figure Legends and Tables 1-2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Supplementary Figure Legends and Tables 1-2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer Open
Supplementary Figure Legends and Tables 1-2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
View article: Supplementary Figure 2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Supplementary Figure 2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer Open
Supplementary Figure 2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
View article: Data from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Data from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer Open
Fanconi anemia is an inherited cancer predisposition disease characterized by cytogenetic and cellular hypersensitivity to cross-linking agents. Seeking evidence of Fanconi anemia protein dysfunction in women at risk of ovarian cancer, we …
View article: Supplementary Figure 1 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Supplementary Figure 1 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer Open
Supplementary Figure 1 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
View article: Supplementary Figure Legends and Tables 1-2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Supplementary Figure Legends and Tables 1-2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer Open
Supplementary Figure Legends and Tables 1-2 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
View article: Supplementary Figure 1 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Supplementary Figure 1 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer Open
Supplementary Figure 1 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
View article: Data from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Data from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer Open
Fanconi anemia is an inherited cancer predisposition disease characterized by cytogenetic and cellular hypersensitivity to cross-linking agents. Seeking evidence of Fanconi anemia protein dysfunction in women at risk of ovarian cancer, we …
View article: A retrospective cohort analysis of the Yale pediatric genomics discovery program
A retrospective cohort analysis of the Yale pediatric genomics discovery program Open
The Pediatric Genomics Discovery Program (PGDP) at Yale uses next‐generation sequencing (NGS) and translational research to evaluate complex patients with a wide range of phenotypes suspected to have rare genetic diseases. We conducted a r…
View article: A novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiency
A novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiency Open
Pyoderma gangrenosum (PG) is a sterile neutrophilic dermatosis manifesting as painful inflammatory plaques and ulcers, frequently associated with inflammatory bowel disease, rheumatoid arthritis, myelodysplastic syndrome, and acute myeloid…
View article: D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia Open
D ‐bifunctional protein (DBP) deficiency is a rare, autosomal recessive peroxisomal enzyme deficiency resulting in a high burden of morbidity and early mortality. Patients with DBP deficiency resemble those with a severe Zellweger phenotyp…
View article: Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues
Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues Open
Background The OncoScan microarray assay (OMA) using highly multiplexed molecular inversion probes for single nucleotide polymorphism (SNP) loci enabled the detection of cytogenomic abnormalities of chromosomal imbalances and pathogenic co…