Louisa R. Kalsner

Pediatric Neurology
310 Western Blvd
Glastonbury, CT 06033

Last Updated: 09/26/2026

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Found 18 publications

Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing.

Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing.

Journal: HGG advances
Published: December 22, 2025

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities.

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities.

Journal: medRxiv : the preprint server for health sciences
Published: June 06, 2025

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

Journal: American journal of medical genetics. Part A
Published: October 31, 2024

A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.

A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.

Journal: bioRxiv : the preprint server for biology
Published: May 07, 2024

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics
Published: April 01, 2024

New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.

New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.

Journal: Clinical genetics
Published: March 06, 2024

Fetal anomaly diagnosis and termination of pregnancy.

Fetal anomaly diagnosis and termination of pregnancy.

Journal: Developmental medicine and child neurology
Published: October 18, 2022

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.

Journal: American journal of medical genetics. Part A
Published: March 03, 2022

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Journal: American journal of human genetics
Published: December 07, 2020

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.

Journal: Journal of human genetics
Published: March 20, 2020

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Journal: Human mutation
Published: December 04, 2019

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.

Journal: European journal of medical genetics
Published: February 17, 2019
Showing 1-12 of 18

Last Updated: 09/26/2026