Louise Bier
A5002682688- Genomics and Rare Diseases
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- Carbohydrate Chemistry and Synthesis
- Autism Spectrum Disorder Research
- Renal Diseases and Glomerulopathies
- Erythrocyte Function and Pathophysiology
- Ethics in Clinical Research
- Cerebral Palsy and Movement Disorders
- Epilepsy research and treatment
- Congenital Anomalies and Fetal Surgery
- Prenatal Screening and Diagnostics
- Glycosylation and Glycoproteins Research
- Pancreatic function and diabetes
- Research Data Management Practices
- Family and Disability Support Research
- Chronic Lymphocytic Leukemia Research
- Data Quality and Management
- Genetic Syndromes and Imprinting
- Studies on Chitinases and Chitosanases
- Renal and related cancers
- Scientific Computing and Data Management
Icahn School of Medicine at Mount Sinai
2012-2025
Columbia University Irving Medical Center
2016-2024
Columbia University
2016-2023
Synod Hospital
2021
Presbyterian Hospital
2021
Cincinnati Children's Hospital Medical Center
2014
Information on age-specific risk for Parkinson disease (PD) in patients with Gaucher (GD) and glucocerebrosidase (GBA) heterozygotes is important understanding the pathophysiology of genetic association counseling these populations.
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Exome sequencing is increasingly being used for clinical diagnostics, with an impetus to expand reporting of incidental findings across a wide range disorders. Analysis population cohorts can help reduce risk genetic variant misclassification and resultant unnecessary referrals subspecialists.To examine the burden candidate pathogenic variants kidney genitourinary disorders emerging from exome sequencing.Secondary analysis data.A tertiary care academic medical center.A convenience sample...
AIM To determine which patients with cerebral palsy (CP) should undergo genetic testing, we compared the rate of likely causative variants from whole-exome sequencing in individuals and without environmental risk factors. METHOD Patients were part a convenience physician-referred cohort recruited single medical center, research was completed. Participants evaluated for following factors: extreme preterm birth, brain bleed or stroke, birth asphyxia, malformations, intrauterine infection....
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, has not rigorously evaluated as gene, associated phenotypes delineated. We identified 24 patients with NDD, establishing an NDD gene. Most had epilepsy onset the first few years of life, often characterized by generalized seizure types, including myoclonic atonic seizures. Our data show broader phenotypic spectrum than previously described, myoclonic‐astatic...
Abstract Genetic counseling for patients who are pursuing genetic testing in the absence of a medical indication, referred to as elective genomic (EGT), is becoming more common. This type has potential detect conditions before there significant health impact permitting earlier management and/or treatment. Pre‐ and post‐test EGT similar indication‐based testing. Both require complete family history when ordering test or interpreting result. However, some special considerations including...
Background Studies indicate that variants of uncertain significance are more common in non-European populations due to lack a diversity population databases. This difference has not been explored epilepsy, which is increasingly found be genetic paediatric populations, and precision medicine applications. study examines the differences frequency next-generation sequencing (NGS) results among epilepsy cohort between ancestral groups historically under-represented biomedical research (UBR)...
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes limited by the young age short follow-up many of previously reported cases, further delineation spectrum associated phenotypes is needed. We present 25 new patients with variants in refine NDD epilepsy phenotypes. were identified research or clinical exome sequencing, investigators from different centers connected via GeneMatcher. Most...
The All of Us Research Program aims to return value participants by developing research capacity in communities. We describe a novel set introductory exercises (Data Sandboxes) and specialized trainings orient researchers the Researcher Workbench foster health equity research.
Gaucher disease (GD) is an autosomal recessive caused by GBA mutations that especially common in the Ashkenazi Jewish (AJ) population. The link between and Parkinson (PD), a later-onset neurodegenerative condition, well established, studies have shown carriers increased lifetime risk of developing PD. Carrier screening for GD frequently offered to couples during or prior pregnancy, those AJ descent. However, no been performed assess if prospective parents would want learn about their PD...
The association between 1p32-p31 contiguous gene deletions and a distinct phenotype that includes anomalies of the corpus callosum, ventriculomegaly, developmental delay, seizures, dysmorphic features has been long recognized described. Recently, observation overlapping phenotypes in patients with chromosome translocations disrupt NFIA (Nuclear factor I/A), within this deleted region, intragenic led to hypothesis is critical region. wide application increasing accessibility whole exome...