Louisa Kalsner
A5067455432- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Protein Tyrosine Phosphatases
- Family and Disability Support Research
- Moyamoya disease diagnosis and treatment
- RNA modifications and cancer
- Cancer-related gene regulation
- Neurogenetic and Muscular Disorders Research
- Genetic Syndromes and Imprinting
- Cancer-related Molecular Pathways
- Prenatal Screening and Diagnostics
- Ubiquitin and proteasome pathways
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genetic factors in colorectal cancer
- Ethics and Legal Issues in Pediatric Healthcare
- Child Nutrition and Feeding Issues
- Genetic and Kidney Cyst Diseases
- Blood disorders and treatments
- Reproductive Health and Technologies
- Attention Deficit Hyperactivity Disorder
Connecticut Children's Medical Center
2016-2025
University of Connecticut
2015-2025
UConn Health
2016-2020
Hartford Financial Services (United States)
2016
Harvard University
1998
Beth Israel Deaconess Medical Center
1998
Boston Children's Hospital
1998
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine essential for variety of cellular processes including signal transduction, survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type (KNO2)—a developmental disorder primarily characterized by ocular anomalies. Here, we identified novel de novo heterozygous missense variant in PAK2, NM_002577.4:c.1273G>A, p.(D425N), genome sequencing an individual with features...
SATB2‐associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted case reports small series without in‐depth phenotypic characterization or genotype‐phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals a molecularly confirmed diagnosis...
Thousand and one amino-acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen-activated pathways, thereby modulating multitude of processes in the cell. Given recent finding TAOK1 involvement neurodevelopmental disorders (NDDs), we investigated role neuronal function collected cohort 23 individuals with mostly de novo variants to further define associated NDD. Here, provide evidence for an important function, showing that altered expression levels embryonic mouse brain...
Abstract The p21‐activated kinase (PAK) family of proteins regulates various processes requiring dynamic cytoskeleton organization such as cell adhesion, migration, proliferation, and apoptosis. Among the six members protein family, PAK2 is specifically involved in apoptosis, angiogenesis, or development endothelial cells. We report a novel de novo heterozygous missense variant, p.(Thr406Met), found newborn with clinical manifestations Knobloch syndrome. In vitro experiments indicated that...
Genetic testing of children with autism spectrum disorder (ASD) is now standard in the clinical setting, American College Medical Genetics and Genomics (ACMGG) guidelines recommending microarray for all children, fragile X boys additional gene sequencing, including PTEN MECP2, appropriate patients. Increasingly, utilizing high throughput panels whole exome are offered as well. We performed genetic microarray, targeted panel, consistently sequencing 161 genes associated ASD risk, a population...
SATB2 ‐associated syndrome ( SAS ) is a multisystemic disorder caused by alterations of the gene. We describe phenotype and genotype 12 individuals with 10 unique (de novo in 11 tested) pathogenic variants (1 splice site, 5 frameshift, 3 nonsense, 2 missense) review all cases reported published literature point thus far. In cohort here described, developmental delay (DD) severe speech compromise, facial dysmorphism, dental anomalies were present cases. also third case tibial bowing an...
A 14-year-old girl with the mitochondrial neurogastrointestinal encephalopathy syndrome had an 8-year history of intestinal pseudoobstruction abdominal pain, persistent vomiting, gastric and duodenal dilatation, diverticulosis. The child appeared chronically malnourished severe growth failure. Multisystem involvement was evident presence ptosis, external ophthalmoplegia, muscle wasting, peripheral neuropathy, diffuse white matter disease seen on magnetic resonance imaging. Lactic acidosis...
SUMMARY P21-activated kinase 2 (PAK2) is a serine/threonine essential for variety of cellular processes including signal transduction, survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type (KNO2)—a developmental disorder primarily characterized by ocular anomalies. Here, we identified novel de novo heterozygous missense variant in , NM_002577.4:c.1273G>A, p.(D425N), whole genome sequencing an individual with features...
Objective: To determine the yield of genetic testing including microarray, fragile X and targeted gene panel in a well characterized clinical population children with autism spectrum disorder (ASD). Background: Genetic ASD is now standard setting, American College Medical Genetics Genomics guidelines recommending for boys additional sequencing, PTEN MECP2 , appropriate patients. Increasingly, utilizing high throughput panels whole exome sequencing (WES), are offered as well. WES has been...
To report a rare case of FOXG1 syndrome, often misdiagnosed as cerebral palsy
We present the phenotypes of seven previously unreported patients with Marbach-Schaaf neurodevelopmental syndrome, all carrying same recurrent heterozygous missense variant c.1003C>T (p.Arg335Trp) in PRKAR1B. Clinical features this cohort include global developmental delay and reduced sensitivity to pain, as well behavioral anomalies. Only one reported here was formally diagnosed autism spectrum disorder (ASD), while ASD-like were described others, overall indicating a lower prevalence ASD...
Objective: To investigate the role of TSC2 gene missense mutations in autism spectrum disorder. Background: Tuberous sclerosis complex (TSC) is a neurogenetic disorder caused by heterozygous loss function either TSC1 or gene. TSC genes operate inhibiting mammalian target rapamycin complex1 (mTORC1), pathway that controls cell growth. Classically, diagnosed based on constellation clinical findings including hypomelanotic macules, angiofibromas, cortical dysplasia and cardiac rhabdomyomas. It...