Colleen M Donnelly

4PUBLICATIONS
15CO-AUTHORS
Developmental genetics (incl. sex determination)Molecular targetsNeonatology
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Publications (4)

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|Aug 26, 2026
Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling.

|Dec 11, 2025
MECP2-Dependent Cancers Can Be Targeted by Epigenetic Drugs: A New Role for Epigenetic Cancer Therapy.

Manish Neupane, Mukesh Kumar, Malela A Mwamufiya

|Jan 22, 2024
A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection.

Colleen Donnelly, Lissette Estrella, Ilona Ginevic

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Frequent Collaborators

2 joint publications

Irina Vasilevskaya

2 joint publications

Daniel P Silver

2 joint publications

Inna Chervoneva

2 joint publications

Brian Curcio

2 joint publications

Manish Neupane

2 joint publications

Mukesh Kumar

2 joint publications

Malela A Mwamufiya

2 joint publications

Alsu Ibragimova

1 joint publications

Amy White

1 joint publications

Joseph Orsini

Frequent Collaborators

2 joint publications

Irina Vasilevskaya

2 joint publications

Daniel P Silver

2 joint publications

Inna Chervoneva

2 joint publications

Brian Curcio

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