Billie R. Lianoglou
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View article: Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community
Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community Open
Background In-utero cell and gene therapies could become effective treatments for many inherited diseases. Notably, recent pre-clinical data supports that in-utero hematopoietic stem cell transplantation ( IU -HSCT) can be curative for bon…
View article: Genetic diseases underlying a spectrum of fetal effusions
Genetic diseases underlying a spectrum of fetal effusions Open
View article: P555: Prenatal genomic testing and abortion: Parental perspectives in the context of a fetal structural anomaly
P555: Prenatal genomic testing and abortion: Parental perspectives in the context of a fetal structural anomaly Open
View article: P718: Mucopolysaccharidosis type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes
P718: Mucopolysaccharidosis type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes Open
View article: P833: Persistent clenched hands with or without adducted thumbs: A fetal ultrasound finding in neuronopathic Gaucher disease
P833: Persistent clenched hands with or without adducted thumbs: A fetal ultrasound finding in neuronopathic Gaucher disease Open
View article: 234 Expanded carrier screening for genetic conditions with clinical trials in-utero therapy
234 Expanded carrier screening for genetic conditions with clinical trials in-utero therapy Open
View article: Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies
Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies Open
Objective Despite exome sequencing (ES) becoming increasingly incorporated into the prenatal setting, few studies have elucidated motivations for and trust in ES and genomic research among a diverse cohort of patients and their partners. M…
View article: Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects Open
Lysosomal storage disorders (LSDs) are a group of monogenic condition, with many characterized by an enzyme deficiency leading to the accumulation of an undegraded substrate within the lysosomes. For those LSDs, postnatal enzyme replacemen…
View article: Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population Open
View article: Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US
Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US Open
Objective There is increasing evidence supporting the clinical utility of next generation sequencing for identifying fetal genetic disorders. However, there are limited data on the demand for and accessibility of these tests, as well as pa…
View article: The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction Open
Objective Fetal megacystis generally presents as suspected lower urinary tract obstruction (LUTO), which is associated with severe perinatal morbidity. Genetic etiologies underlying LUTO or a LUTO—like initial presentation are poorly under…
View article: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population Open
The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a …
View article: O40: Clinical utility of prenatal exome sequencing in a diverse cohort*
O40: Clinical utility of prenatal exome sequencing in a diverse cohort* Open
View article: P027: Analysis of glycosaminoglyans in biological fluids reveals diverging trends in heparan sulfate, dermatan sulfate and chondroitine sulfate concentrations with age*
P027: Analysis of glycosaminoglyans in biological fluids reveals diverging trends in heparan sulfate, dermatan sulfate and chondroitine sulfate concentrations with age* Open
View article: O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort
O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort Open
View article: Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series Open
Objective Tubulinopathies refer to conditions caused by genetic variants in isotypes of tubulin resulting in defective neuronal migration. Historically, diagnosis was primarily via postnatal imaging. Our objective was to establish the pren…
View article: In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease Open
Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRI…
View article: The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry
The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry Open
Alpha thalassemia major (ATM) is a hemoglobinopathy that usually results in perinatal demise if in utero transfusions (IUTs) are not performed. We established an international registry (NCT04872179) to evaluate the impact of IUTs on surviv…
View article: Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI‐FDA Meeting)
Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI‐FDA Meeting) Open
We are living in a golden age of medicine in which the availability of prenatal diagnosis, fetal therapy, and gene therapy/editing make it theoretically possible to repair almost any defect in the genetic code. Furthermore, the ability to …
View article: Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy
Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy Open
Objective In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials. Methods A multidisciplinary…
View article: The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing
The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing Open
Objective Exome sequencing (ES) offers the ability to assess for variants in thousands of genes and is particularly useful in the setting of fetal anomalies. However, the ES pipeline relies on a thorough understanding of an individual pati…
View article: “Let’s Just Wait Until She’s Born”: Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research
“Let’s Just Wait Until She’s Born”: Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research Open
Genomic sequencing has been increasingly utilized for prenatal diagnosis in recent years and this trend is likely to continue. However, decision-making for parents in the prenatal period is particularly fraught, and prenatal sequencing wou…
View article: Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach Open
View article: Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients
Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients Open
Background Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood–brain barrier, and early disease onset and progression …
View article: Consensus statement for the perinatal management of patients with α thalassemia major
Consensus statement for the perinatal management of patients with α thalassemia major Open
View article: Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis
Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis Open
View article: Preference for secondary findings in prenatal and pediatric exome sequencing
Preference for secondary findings in prenatal and pediatric exome sequencing Open
Objective We aimed to determine the frequency of accepting secondary findings in families undergoing exome sequencing in prenatal and pediatric settings. Methods This was a secondary analysis of prospectively enrolled patients undergoing t…
View article: Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium
Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium Open
Genomic sequencing results need to be effectively communicated across all populations and practice settings. Projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium enroll diverse racial/ethnic and medically unde…
View article: 1027 Diagnostic yield of exome sequencing in prenatal diagnosis
1027 Diagnostic yield of exome sequencing in prenatal diagnosis Open
View article: 292 Prenatal diagnosis of tubulinopathies
292 Prenatal diagnosis of tubulinopathies Open