Monica Salani

Monica Salani

Harvard University

H-index: 10

North America-United States

About Monica Salani

Monica Salani, With an exceptional h-index of 10 and a recent h-index of 8 (since 2020), a distinguished researcher at Harvard University, specializes in the field of human genetic, Neurology, Cell Biology.

His recent articles reflect a diverse array of research interests and contributions to the field:

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

Post-transcriptional RNA stabilization of telomere-proximal RNAs FRG2, DBET, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length.

High-resolution and noninvasive fetal exome screening

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

Novel oral drug treatment rescues progressive optic neuropathy in a phenotypic mouse model of familial dysautonomia

Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

O39: Comprehensive, high-resolution, and non-invasive prenatal screening of coding variation

Monica Salani Information

University

Position

Project Manager, Massachusetts General Hospital

Citations(all)

585

Citations(since 2020)

333

Cited By

360

hIndex(all)

10

hIndex(since 2020)

8

i10Index(all)

11

i10Index(since 2020)

8

Email

University Profile Page

Google Scholar

Monica Salani Skills & Research Interests

human genetic

Neurology

Cell Biology

Top articles of Monica Salani

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

Scientific Reports

2024/1/4

Post-transcriptional RNA stabilization of telomere-proximal RNAs FRG2, DBET, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length.

bioRxiv

2024

Monica Salani
Monica Salani

H-Index: 7

High-resolution and noninvasive fetal exome screening

New England Journal of Medicine

2023/11/23

Novel oral drug treatment rescues progressive optic neuropathy in a phenotypic mouse model of familial dysautonomia

Investigative Ophthalmology & Visual Science

2023/6/1

Monica Salani
Monica Salani

H-Index: 7

Xin Zhao
Xin Zhao

H-Index: 38

Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

The American Journal of Human Genetics

2023/3/2

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

bioRxiv

2023

O39: Comprehensive, high-resolution, and non-invasive prenatal screening of coding variation

Genetics in Medicine Open

2023/1/1

Harrison Brand
Harrison Brand

H-Index: 21

Monica Salani
Monica Salani

H-Index: 7

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

The American Journal of Human Genetics

2022/11/3

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage

Journal of Genetics and Genomics

2022/7/1

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia

Human Molecular Genetics

2022/6/1

Monica Salani
Monica Salani

H-Index: 7

Xia Wang
Xia Wang

H-Index: 6

Development of a novel oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

bioRxiv

2022/11/4

643: A novel splice modulator compound corrects splicing defect caused by c. 2988G> A variant in CFTR

Journal of Cystic Fibrosis

2021/11/1

A novel exon-specific U1snRNA therapeutic strategy to prevent retinal degeneration in familial dysautonomia

Investigative Ophthalmology & Visual Science

2021/6/21

Monica Salani
Monica Salani

H-Index: 7

Giulia Romano
Giulia Romano

H-Index: 1

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

Nature communications

2021/6/7

MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV

Human Molecular Genetics

2021/5/15

Monica Salani
Monica Salani

H-Index: 7

MCOLN1 gene-replacement therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV

bioRxiv

2020/12/7

Monica Salani
Monica Salani

H-Index: 7

Characterization of the retinal phenotype in a humanized FD mouse model with defective ELP1 splicing.

Investigative Ophthalmology & Visual Science

2020/6/10

Xia Wang
Xia Wang

H-Index: 6

Monica Salani
Monica Salani

H-Index: 7

A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders

BioRxiv

2020/2/4

See List of Professors in Monica Salani University(Harvard University)