Melissa B. Ramocki

Pediatric Neurology

1351 S County Trl Bldg 3
East Greenwich, RI 02818

Last Updated: 09/26/2026

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Found 14 publications

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Journal: Genome medicine

Published: February 06, 2024

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.

Journal: Neurology. Genetics

Published: December 12, 2021

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Journal: American journal of medical genetics. Part A

Published: August 12, 2015

Altered neuronal network and rescue in a human MECP2 duplication model.

Altered neuronal network and rescue in a human MECP2 duplication model.

Journal: Molecular psychiatry

Published: March 13, 2015

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

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

Published: February 05, 2015

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

Journal: American journal of human genetics

Published: July 18, 2014

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.

Journal: PLoS genetics

Published: April 05, 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Journal: American journal of human genetics

Published: March 14, 2013

Brief report: regression timing and associated features in MECP2 duplication syndrome.

Brief report: regression timing and associated features in MECP2 duplication syndrome.

Journal: Journal of autism and developmental disorders

Published: March 05, 2013

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses.

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses.

Journal: Science translational medicine

Published: December 11, 2012

Replicative mechanisms for CNV formation are error prone.

Replicative mechanisms for CNV formation are error prone.

Journal: Nature genetics

Published: November 29, 2012

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Journal: Journal of medical genetics

Published: October 12, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026