Susan Zeesman

Hamilton, ON, Canada

Last Updated: 09/26/2026

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Found 10 publications

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 17, 2018

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 05, 2016

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

Journal: Clinical genetics

Published: January 02, 2015

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

Journal: American journal of medical genetics. Part A

Published: May 28, 2014

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 13, 2014

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

Journal: American journal of human genetics

Published: August 08, 2013

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

Journal: American journal of medical genetics. Part A

Published: January 10, 2013

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Journal: Clinical genetics

Published: January 08, 2013

Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients.

Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients.

Journal: American journal of medical genetics. Part A

Published: September 21, 2012

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Journal: American journal of medical genetics. Part A

Published: November 30, 2011

Showing 1-10 of 10

Last Updated: 09/26/2026