Nicola Brunetti‐Pierri

Beth Israel Deaconess Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

59h-index24.3kcitations371works4.12yr avg

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Research Topics

Virus-based gene therapy research(64), Genetics and Neurodevelopmental Disorders(53), Metabolism and Genetic Disorders(50), Genomics and Rare Diseases(43), Genomic variations and chromosomal abnormalities(31)

Publications362 total

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila

Biochemistry and Biophysics Reports·2025Open Access

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms

American Journal of Medical Genetics Part A·2025Open Access

Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease

2 cited

American Journal of Medical Genetics Part C Seminars in Medical Genetics·2025· 2 cited

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes

1 cited

Neurology Genetics·2025· 1 citedOpen Access

An <scp> OGT </scp> Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A·2025Open Access

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

1 cited

European Journal of Human Genetics·2025· 1 citedOpen Access

A clinical and genotype-phenotype analysis of MACF1 variants

1 cited

The American Journal of Human Genetics·2025· 1 citedOpen Access

Computational identification of small molecules for increased gene expression by synthetic circuits in mammalian cells

2 cited

Nature Communications·2025· 2 citedOpen Access

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly

Clinical Genetics·2025Open Access

Author response for "A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly"

2025

Normal urinary oxalate excretion in 4-hydroxy-2-oxo-glutarate aldolase 1 (HOGA1) deficient mice with AGT expression in peroxisomes and not in mitochondria

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2025

Gene Therapy for Infantile-Onset Pompe’s Disease

New England Journal of Medicine·2025

Hepatocyte delivery of miR-34b/c reduces hepatic stellate cell activation and improves liver fibrosis

Molecular Therapy — Nucleic Acids·2025Open Access

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

4 cited

Annals of Clinical and Translational Neurology·2025· 4 citedOpen Access

Abstract 1976 Bi-allelic inactivating variants of lactosylceramide synthase B4GALT5 responsible for a novel congenital disorder of glycosylation involving glycosphingolipids

Journal of Biological Chemistry·2025Open Access

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

4 cited

Nature Communications·2025· 4 citedOpen Access

Impact of liver fibrosis on AAV-mediated gene transfer to mouse hepatocytes

6 cited

Nature Communications·2025· 6 citedOpen Access

Commentary on ‘Lentivirus‐mediated gene therapy for Fabry disease: 5‐year end‐of‐study results from the Canadian FACTS trial’

Clinical and Translational Discovery·2025Open Access

3 cited

Genetics in Medicine·2025· 3 citedOpen Access

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center

8 cited

Orphanet Journal of Rare Diseases·2025· 8 citedOpen Access

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Frequent Co-authors

Donna Palmer(8), Arthur L. Beaudet(7), Gerarda Cappuccio(7), Brendan Lee(6), Andrea Ballabio(6), Philip Ng(6), Diego di Bernardo(5), Milton J. Finegold(5), Fernando Scaglia(4), James R. Lupski(4), Sau Wai Cheung(4), Giuseppe Merla(4), Ayelet Erez(4), Francesco Iorio(3), Pratibha Mithbaokar(3), Rosa Ferriero(3), Diego L. Medina(3), Carmine Settembre(3), Lee-Jun Wong(3), David J. Amor(3)