Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

M. Salani · SciRah

Researcher profile · Semantic Scholar

M. Salani

Share profile

M. Salani — researcher profile on SciRah

h-index: 14
Works: 38
Citations: 695

Most-cited papers

Mutations in DCHS1 Cause Mitral Valve Prolapse
R. Durst, Kimberly Sauls, David S. Peal, Annemarieke deVlaming +46 more
2015Nature187 citations Open access
Semantic Scholar
The readthrough variant of acetylcholinesterase remains very minor after heat shock, organophosphate inhibition and stress, in cell culture and in vivo
N. Perrier, M. Salani, C. Falasca, S. Bon +2 more
2005Journal of Neurochemistry69 citations
Semantic Scholar
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
G. Forlani, E. Giarda, U. Ala, F. Di Cunto +4 more
2010Human Molecular Genetics62 citations Open access
Semantic Scholar
High-Resolution and Noninvasive Fetal Exome Screening
H. Brand, Christopher W Whelan, Michael H Duyzend, J. Lemanski +14 more
2023New England Journal of Medicine47 citations Open access
Semantic Scholar
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
E. Morini, D. Gao, Connor M Montgomery, M. Salani +16 more
2019American Journal of Human Genetics40 citations Open access
Semantic Scholar
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
E. Morini, Paula Dietrich, M. Salani, Heather M. Downs +8 more
2016Human Molecular Genetics40 citations Open access
Semantic Scholar
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders
D. Gao, E. Morini, M. Salani, Aram J. Krauson +21 more
2021Nature Communications39 citations Open access
Semantic Scholar
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
Kiana Mohajeri, Rachita Yadav, E. D'Haene, Philip M. Boone +19 more
2022bioRxiv29 citations Open access
Semantic Scholar
Acetylcholine‐induced neuronal differentiation: muscarinic receptor activation regulates EGR‐1 and REST expression in neuroblastoma cells
M. Salani, Tonino Anelli, Gabriella Augusti Tocco, E. Lucarini +4 more
2009Journal of Neurochemistry23 citations
Semantic Scholar
Hepatocyte growth factor stimulates cell motility in cultures of the striatal progenitor cells ST14A
E. Cacci, M. Salani, S. Anastasi, Isabelle Perroteau +3 more
2003Journal of Neuroscience Research23 citations
Semantic Scholar
Acetylcholine induces neurite outgrowth and modulates matrix metalloproteinase 2 and 9.
Tonino Anelli, F. Mannello, M. Salani, G. Tonti +2 more
2007Biochemical and Biophysical Research Communications - BBRC21 citations
Semantic Scholar
Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia
M. Salani, Fabio L. Urbina, A. Brenner, E. Morini +8 more
2018SLAS discovery : advancing life sciences R & D19 citations Open access
Semantic Scholar
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
Yulia Mostovoy, Philip M. Boone, Yongqing Huang, K. Garimella +18 more
2023bioRxiv18 citations Open access
Semantic Scholar
MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.
Samantha De Rosa, M. Salani, Sierra Smith, M. Sangster +7 more
2021Human Molecular Genetics18 citations Open access
Semantic Scholar
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia
E. Morini, Anil Chekuri, Emily M. Logan, Jessica Bolduc +17 more
2023American Journal of Human Genetics14 citations Open access
Semantic Scholar
Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia
Anil Chekuri, Emily M. Logan, Aram J. Krauson, M. Salani +9 more
2021bioRxiv10 citations Open access
Semantic Scholar
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
E. Morini, D. Gao, Emily M. Logan, M. Salani +10 more
2021bioRxiv10 citations Open access
Semantic Scholar
A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders
D. Gao, E. Morini, M. Salani, Aram J. Krauson +17 more
2020bioRxiv6 citations Open access
Semantic Scholar
Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length
Valentina Salsi, Francesca Losi, M. Salani, Paul D. Kaufman +1 more
2025Clinical Epigenetics5 citations Open access
Semantic Scholar
Readthrough acetylcholinesterase expression remains minor after stress or exposure to inhibitors
N. Perrier, M. Salani, C. Falasca, S. Bon +2 more
2007Journal of Molecular Neuroscience5 citations
Semantic Scholar
Facioscapulohumeral Muscular Dystrophy: From Clinical Data to Molecular Genetics and Return
M. Salani, E. Morini, I. Scionti, R. Tupler
20124 citations Open access
Semantic Scholar
P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*
Philip M. Boone, Kamli N. W. Faour, Kiana Mohajeri, J. Lemanski +82 more
2023Genetics in Medicine Open2 citations Open access
Semantic Scholar
CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling
M. Moyses-Oliveira, Ya-Ting Liu, Serkan Erdin, D. Gao +17 more
2026HGG advances1 citations Open access
Semantic Scholar
Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism
Rachita Yadav, Christine A. Vaine, Aloysius Domingo, S. Reed +24 more
2025medRxiv1 citations Open access
Semantic Scholar
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
Ricardo Harripaul, Elisabetta Morini, M. Salani, Emily M. Logan +9 more
2024Scientific Reports1 citations Open access
Semantic Scholar
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
Ricardo Harripaul, Elisabetta Morini, M. Salani, Emily M. Logan +9 more
2024Scientific Reports1 citations Open access
Semantic Scholar
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
Ricardo Harripaul, Elisabetta Morini, M. Salani, Emily M. Logan +9 more
2023bioRxiv1 citations Open access
Semantic Scholar
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Philip M. Boone, S. Erdin, Abucar Mohamed, S. Haghshenas +147 more
2026American Journal of Human Genetics0 citations Open access
Semantic Scholar
Aberrant recursive splicing in a human disease locus.
Philip M. Boone, Ricardo Harripaul, Rachita Yadav, Michael N. Grzybowski +40 more
2026Cell Reports0 citations Open access
Semantic Scholar
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder
Philip M. Boone, S. Erdin, Abucar Mohamed, S. Haghshenas +147 more
2026medRxiv0 citations Open access
Semantic Scholar
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
A. González-Duarte, L. Norcliffe-Kaufmann, Maria L Cotrina, Zenith Khan +10 more
2025Annals of Clinical and Translational Neurology0 citations Open access
Semantic Scholar
Aberrant recursive splicing in a human disease locus
Philip M. Boone, Ricardo Harripaul, Rachita Yadav, Michael N. Grzybowski +40 more
2025bioRxiv0 citations
Semantic Scholar
CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling
M. Moyses-Oliveira, Ya-Ting Liu, Serkan Erdin, D. Gao +17 more
2025bioRxiv0 citations Open access
Semantic Scholar
Post-transcriptional RNA stabilization of telomere-proximal RNAs FRG2, DBET, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length
Valentina Salsi, Francesca Losi, M. Salani, Paul D. Kaufman +1 more
2024bioRxiv0 citations Open access
Semantic Scholar
O39: Comprehensive, high-resolution, and non-invasive prenatal screening of coding variation*
Michael Duyzend, H. Brand, Christopher W Whelan, J. Lemanski +12 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
643: A novel splice modulator compound corrects splicing defect caused by c.2988G >A variant in CFTR
N. Sharma, E. Morini, D. Gao, M. Salani +3 more
2021Journal of Cystic Fibrosis0 citations Open access
Semantic Scholar
MCOLN1 gene-replacement therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV
Samantha De Rosa, M. Salani, Sierra Smith, M. Sangster +7 more
2020bioRxiv0 citations Open access
Semantic Scholar
Results of the Collaborative Study on Neurofibromatosis Type-1 (Nf1) in Italy
P. Alvisi, P. Balestri, G. Bartalini, A. Berardi +52 more
19930 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

M. Talkowski×16
Invite
M. Talkowski — researcher profile on SciRah
Benjamin B. Currall×13
Invite
Benjamin B. Currall — researcher profile on SciRah
S. Slaugenhaupt×12
Invite
S. Slaugenhaupt — researcher profile on SciRah
S. Erdin×12
Invite
S. Erdin — researcher profile on SciRah

×10

Invite

E. Morini — researcher profile on SciRah

Invite

J. Lemanski — researcher profile on SciRah

Invite

J. Gusella — researcher profile on SciRah

Emily M. Logan×8

Invite

Emily M. Logan — researcher profile on SciRah

Kiana Mohajeri×8

Invite

Kiana Mohajeri — researcher profile on SciRah

Derek J. C. Tai×8

Invite

Derek J. C. Tai — researcher profile on SciRah

Invite

C. de Esch — researcher profile on SciRah

Invite

D. Gao — researcher profile on SciRah