Laura Pisani

Medical Genetics | Pediatrics

3959 Broadway
Columbia University Medical Center/clinical Genetics
New York, NY 10032

Last Updated: 09/26/2026

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Found 6 publications

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Journal: JAMA neurology

Published: October 31, 2022

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 03, 2019

Impact of patient education videos on genetic counseling outcomes after exome sequencing.

Impact of patient education videos on genetic counseling outcomes after exome sequencing.

Journal: Patient education and counseling

Published: March 04, 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Journal: Nature communications

Published: July 30, 2018

Defining the phenotypic spectrum of SLC6A1 mutations.

Defining the phenotypic spectrum of SLC6A1 mutations.

Journal: Epilepsia

Published: November 24, 2017

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion.

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion.

Journal: NPJ genomic medicine

Published: October 27, 2017

Showing 1-6 of 6

Last Updated: 09/26/2026