Monica Salani
Harvard University
H-index: 10
North America-United States
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
H-Index: 7
High-resolution and noninvasive fetal exome screening
New England Journal of Medicine
2023/11/23
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
2023/8/3
Shruti Marwaha
H-Index: 4
Medhat Mahmoud
H-Index: 8
Bo Yuan
H-Index: 23
Philip M Boone
H-Index: 16
Deepti Jain
H-Index: 20
Alba Sanchis-Juan
H-Index: 15
Raquel Alvarez
H-Index: 0
Euan Ashley
H-Index: 59
Sairam Behera
H-Index: 4
Elizabeth Blue
H-Index: 16
Harrison Brand
H-Index: 21
Sarah Conner
H-Index: 9
Zain Dardas
H-Index: 2
Evan Eichler
H-Index: 118
Vijay Ganesh
H-Index: 25
Kiran Garimella
H-Index: 19
Pagé Goddard
H-Index: 7
Nikhita Gogate
H-Index: 2
William Gordon
H-Index: 9
William Greenleaf
H-Index: 51
Sanna Gudmundsson
H-Index: 6
Stacey Hall
H-Index: 9
William Harvey
H-Index: 2
Yongqing Huang
H-Index: 8
Parneet Kaur
H-Index: 4
Arthur Ko
H-Index: 17
Anshul Kundaje
H-Index: 49
Soumya Kundu
H-Index: 4
Gabrielle Lemire
H-Index: 3
Richard Lewis
H-Index: 8
Wei Li
H-Index: 8
Pengfei Liu
H-Index: 4
James Lupski
H-Index: 82
Francesco Kumara Mastrorosa
H-Index: 2
Sean Mcgee
H-Index: 35
Alexander Miller
H-Index: 30
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
H-Index: 7
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
H-Index: 21
Monica Salani
H-Index: 7
P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies
Genetics in Medicine Open
2023/1/1
Bimal Jana
H-Index: 8
Serkan Erdin
H-Index: 18
Laura Smith
H-Index: 2
Monica Salani
H-Index: 7
Rachita Yadav
H-Index: 16
Matthew Larson
H-Index: 9
Bo Yuan
H-Index: 23
Christian Gilissen
H-Index: 58
Els Vanhoutte
H-Index: 4
Pankaj Agrawal
H-Index: 25
Michelle Thompson
H-Index: 4
Siddharth Srivastava
H-Index: 2
Bekim Sadikovic
H-Index: 27
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
H-Index: 7
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
H-Index: 7
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
H-Index: 7
MCOLN1 gene-replacement therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV
bioRxiv
2020/12/7
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
H-Index: 6
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