Muna Al Saffar
A5017799899- Microtubule and mitosis dynamics
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Hereditary Neurological Disorders
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Prenatal Screening and Diagnostics
- Renal Diseases and Glomerulopathies
- Genetic and Kidney Cyst Diseases
- Celiac Disease Research and Management
- Botulinum Toxin and Related Neurological Disorders
- Protist diversity and phylogeny
- RNA modifications and cancer
- Hedgehog Signaling Pathway Studies
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
Boston Children's Hospital
2014-2023
United Arab Emirates University
2014-2023
Howard Hughes Medical Institute
2009-2023
Research Network (United States)
2023
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
2009-2017
Beth Israel Deaconess Medical Center
2009
Polymicrogyria is the most commonly diagnosed cortical malformation and associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, cognitive deficits. frequently co-occurs other brain malformations or as part of syndromic diseases. Past studies polymicrogyria have defined heterogeneous genetic nongenetic causes but explained only a small fraction cases.
Abstract Objective We sought to explore the genetic and molecular causes of Troyer syndrome, one several complicated hereditary spastic paraplegias (HSPs). syndrome had been thought be restricted Amish; however, we identified 2 Omani families with HSP, short stature, dysarthria developmental delay—core features syndrome—and a novel mutation in SPG20 gene, which is also mutated Amish. In addition, analyzed expression throughout development infer how disruption this gene might generate...
Congenital anomalies of the kidneys and urinary tract (CAKUT) are most common cause chronic kidney disease among children adults younger than 30 yr. In our previous study, whole-exome sequencing (WES) identified a known monogenic isolated or syndromic CAKUT in 13% families with CAKUT. However, WES has limitations detection copy number variations (CNV) is technically challenging, CNVs causative have previously been detected up to 16% cases.