Dimah Saade

ORCID: 0000-0003-1938-9952

Also affiliated with University of Iowa Hospitals and Clinics

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 21 papers. Top paper: “Intrathecal Gene Therapy for Giant Axonal Neuropathy”.

Intrathecal Gene Therapy for Giant Axonal Neuropathy

New England Journal of Medicine(2024)10.1056/nejmoa2307952

N/A

1.4DataRank · unranked

59 citations

Joshua J. Todd, Dimah Saade, Gina Norato, Minal Jain, Tanya Lehky +24 more

PIEZO2 and perineal mechanosensation are essential for sexual function

Science(2023)10.1126/science.adg0144

N/A

0.614DataRank · unranked

59 citations

Lars J. von Buchholtz, Mélanie Falgairolle, Jennifer Osborne, Eleni Frangos, M. Rocio Servin‐Vences +9 more

The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup

Human Gene Therapy(2020)10.1089/hum.2020.259

N/A

0.529DataRank · unranked

33 citations

Elizabeth A. Ottinger, Deanna Portero, Richa Madan Lomash, Asaf Alimardanov, Pramod Terse +35 more

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Genetics in Medicine(2023)10.1016/j.gim.2023.101023

N/A

0.373DataRank · unranked

11 citations

Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier +95 more

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

Neurology(2022)10.1212/wnl.0000000000200032

N/A

0.360DataRank · unranked

10 citations

Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort +17 more

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108341

N/A

0DataRank · unranked

4 citations

Cheryl Longman, Maria Elena Farrugia, S. Kapetanovic García, Didem Ardıçlı, Haluk Topaloğlu +15 more

PIEZO2 in somatosensory neurons controls gastrointestinal transit

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.11.27.518109

N/A

0DataRank · unranked

10 citations

Ruby M. Lam, Alize Koolen, Yu Wang, Dimah Saade, Meaghan Loud +7 more

PIEZO2 in somatosensory neurons controls gastrointestinal transit

Cell(2023)10.1016/j.cell.2023.07.006

N/A

0DataRank · unranked

137 citations

Ruby M. Lam, Alize Koolen, Yu Wang, Dimah Saade, Meaghan Loud +9 more

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.006

N/A

0DataRank · unranked

37 citations

Tanya L. Schwab, Sarah K. Macklin‐Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehli̇van +25 more

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

Genetics in Medicine(2023)10.1016/j.gim.2023.100856

N/A

0DataRank · unranked

9 citations

Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche +49 more

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

EBioMedicine(2023)10.1016/j.ebiom.2023.104894

N/A

0DataRank · unranked

10 citations

Benedikt Schoser, Marta Margeta, Caroline A. Sewry, Karra A. Jones, Perry B. Shieh +34 more

PIEZO2‐dependent rapid pain system in humans and mice

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.12.01.569650

N/A

0DataRank · unranked

9 citations

Marek Brodzki, Houria Manouze, Gabriela B. Carballo, Emma Kindström, Felipe Meira de‐Faria +24 more

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100274

N/A

0DataRank · unranked

2 citations

Chamindra G. Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah Neuhaus +12 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673

N/A

0DataRank · unranked

2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.52225

N/A

0DataRank · unranked

3 citations

Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou +24 more

PIEZO2 in sensory neurons and urothelial cells coordinates urination

Nature(2020)10.1038/s41586-020-2830-7

N/A

0DataRank · unranked

244 citations

Dimah Saade, Nima Ghitani, Adam M. Coombs, Marcin Szczot, Jason Keller +7 more

T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy ( GAN )

Muscle & Nerve(2025)10.1002/mus.70004

N/A

0DataRank · unranked

0 citations

Thomas W. Bouldin, Diana Bharucha‐Goebel, Terry Hartman, Steven J. Gray, Rachel M. Bailey +7 more

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Nature Medicine(2021)10.1038/s41591-021-01346-1

N/A

0DataRank · unranked

153 citations

Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta +41 more

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

Brain(2021)10.1093/brain/awab179

N/A

0DataRank · unranked

38 citations

Gina Norato, Dimah Saade, Eduardo Paredes, Victoria Biancavilla, Sandra Donkervoort +14 more

Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

Nature Communications(2021)10.1038/s41467-021-20939-5

N/A

0DataRank · unranked

36 citations

Jaquette Liljencrantz, Nicholas Madian, Aaron Necaise, Justin D. Tubbs, Micaela V. McCall +16 more

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100097

N/A

0DataRank · unranked

15 citations

L Bianchi, Francesca Rastelli, Florence Piron‐Prunier, Sophie Ayciriex, Claude Besmond +21 more